tag:blogger.com,1999:blog-38941069091472170362024-02-07T15:10:31.014-05:00Raising Emelyn GraceOur journey of hope, love, and giggles...Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.comBlogger38125tag:blogger.com,1999:blog-3894106909147217036.post-39666873301787640622020-02-29T09:55:00.022-05:002021-01-08T10:04:49.736-05:00Celebrating a rare girl on a rare day!<p>In many ways, Emelyn’s just like any other six year old. She loves kindergarten, the school bus, and all of her friends and teachers. She’s in heaven with a good book, an ice cream cone, and an upbeat dance song. There’s no place she’d rather be than church, the swimming pool, or on a tractor. And yet, she’s also rare—one of only 400 known individuals in the world with a “misspelled” DDX3X gene. This one small change in a single gene makes ordinary tasks, like walking, talking, and learning, a significant challenge. For the first year of her life, when other infants were learning to crawl, walk, and talk—I kept wondering when she’d finally be able to hold her head up. When those same babies were turning two—running, jumping, and speaking in full sentences—I kept wondering when our two year old would finally be able to sit up independently. Those early years, when her development was painfully slow, I wondered if she’d always be so far behind her peers. And now, here we are, Emelyn’s in a typical kindergarten class learning beside typical peers. Yes, there is still a gap—she’s completely nonverbal, far from steady on her feet, and learning at a different pace, but everyday we see this kid grow and blossom. She has worked so hard and so has her village of supporters. It has taken so many people to get us to this point—therapists, teachers, aides, school administrators, grandparents, aunts, uncles, care providers, church family, case workers, nurses, doctors, prayer warriors, sisters, friends, other DDX3X families, researchers, and so many more. On this Rare Disease Day, our family celebrates each of you for the significant roles you’ve played in giving Emelyn the very best shot at reaching her full potential. And for Emelyn’s part, she certainly knows how to reward us with the brightest smiles, contagious giggles, and best hugs. Emelyn Grace—thanks for changing our world for the better, for opening our eyes to true happiness, and for allowing us to learn from you. We love you and can’t wait to see all you accomplish. </p><div class="separator" style="clear: both; text-align: center;"><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgOIgnZzYgoH6BbVcsoAM4nCp89gOhjjUBWDizP2xecV8eZNLVC6Fb12oLnmITsOGsTGbp_9ZYHrmWIwYd0Ok8FY3TT3nOmgcQCdjP0TsPcypRp_iUil2spt16HfOcQp8yY1JBWdQpAxB0/s2048/EM_0.jpg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="2048" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgOIgnZzYgoH6BbVcsoAM4nCp89gOhjjUBWDizP2xecV8eZNLVC6Fb12oLnmITsOGsTGbp_9ZYHrmWIwYd0Ok8FY3TT3nOmgcQCdjP0TsPcypRp_iUil2spt16HfOcQp8yY1JBWdQpAxB0/s320/EM_0.jpg" /></a></div><br /><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg-X6Fc-v2rNiwwLv1kG0gul8s_Z6js8HAnOTGONnBPOzEJiiaDStiMQKxzdXoedji-EWpr62c5N3q0JZvBt2Oh09TPPY6I_ioOXHG-xqQH0slrMzmkGVzhZCDodxgBdg5ai5hP6ALdVK8/s2048/EM_3.jpg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="2048" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg-X6Fc-v2rNiwwLv1kG0gul8s_Z6js8HAnOTGONnBPOzEJiiaDStiMQKxzdXoedji-EWpr62c5N3q0JZvBt2Oh09TPPY6I_ioOXHG-xqQH0slrMzmkGVzhZCDodxgBdg5ai5hP6ALdVK8/s320/EM_3.jpg" /></a></div><br /><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjgThXLivb75ljS_zRDolT3mjAKT_6qax4fy1nb1Cv8DBfeIIE1YSkUdDth94to-_HEeRGqmnCQJfA5By8OtXzeAVP-pI-1YhrCJ5MFo6BN1q7BX9S4-qIooCtfKv03Bm-8y_VltrKzc7A/s2048/EM_1.jpg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="2048" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjgThXLivb75ljS_zRDolT3mjAKT_6qax4fy1nb1Cv8DBfeIIE1YSkUdDth94to-_HEeRGqmnCQJfA5By8OtXzeAVP-pI-1YhrCJ5MFo6BN1q7BX9S4-qIooCtfKv03Bm-8y_VltrKzc7A/s320/EM_1.jpg" /></a></div><br /><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgczJLU1xDdn-rUEHDyOtquMotPPzULzVq6CjUsAHO0up4nAv8w2lNKWZR67I48Ityqo6DLDW8wS11-FtjswS7v7-NHELBFgNX_WDhjr8cuAnMvXxyBI4z690Cp0ZaMTqfTxnV1S50GqT4/s2048/EM_2.jpg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="2048" data-original-width="1536" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgczJLU1xDdn-rUEHDyOtquMotPPzULzVq6CjUsAHO0up4nAv8w2lNKWZR67I48Ityqo6DLDW8wS11-FtjswS7v7-NHELBFgNX_WDhjr8cuAnMvXxyBI4z690Cp0ZaMTqfTxnV1S50GqT4/s320/EM_2.jpg" /></a></div><br /><p>To learn more about Emelyn’s rare syndrome, visit <a href="https://ddx3x.org/" target="_blank">ddx3x.org</a> and follow our Facebook page: https://m.facebook.com/ddx3xfoundation</p>Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-56817734245094914292019-08-06T14:13:00.001-04:002019-08-06T14:15:07.722-04:00Nonverbal...no problem!Every so often I have a dream where I’m talking to Emelyn. I wake up not remembering what we talked about, just that we were talking. This is a common dream for parents of children with DDX3X. As we’ve met DDX3X families and researchers we’ve learned that girls affected with DDX3X have about a 50 percent chance of developing spoken language. (As more children, and even adults, are diagnosed, this statistic could change.) At six years old, Emelyn is completely nonverbal—no “Ma” or “Da,” nothing. Don’t get me wrong, she’s very vocal, especially when she’s happy, but words just aren’t there. Emelyn falls in the 50 percent of girls with DDX3X who, for whatever reason, have a brain development that renders them unable to form and speak words.<br />
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The lack of meaningful language is likely one of the most challenging aspects of caring for Emelyn—hence my mind’s need to serve it up in my subconscious. We’ve come to recognize the obvious clues along the way about what Emelyn wants to tell us…like when she takes one book from your hand and replaces it with another, “Ok, clearly you didn’t want to read that book.” Or when she gives you that you-just-made-my-day-smile after you sing her favorite song. But beyond gestures and smiles, we are limited without spoken language.<br />
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Like many parents of children with DDX3X, we've struggled through multiple speech therapists, trialed countless AAC apps/devices, and spent hours trying to develop echoics...and still, nothing. About two years ago when Emelyn was four years old, I decided to use ABA principles (starting with hand-over-hand and eventually fading to near independence) to teach Emelyn the ASL sign for "read." I chose "read" because books are highly motivating to Emelyn and I knew she'd work for books. By the end of the weekend, she would hand me a book and sign "read." From there we learned other motivating words like "eat" and various other food-related words (cracker, cereal, thirsty, etc.), and it's taken off from there. At this point Emelyn knows 100+ words in ASL—probably more than we know since so many of us teach her different words (the internet is the best teacher—thank you Signing Time and SignSavvy.com).<br />
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Our biggest struggle is fine motor skills. Emelyn can’t precisely sign many words making several words look very similar, such as milk and potty. And certain words/letters are still beyond her ability—for example, she can’t isolate her pinky finger to form “i,” “j,” “y,” or “yellow.” Despite those challenges, we've seen huge strides as we continue to work together to learn and perfect signs. It's a labor of love that is giving us a window into Emelyn's thoughts, needs, and desires. She is so proud of herself and we are amazed at just how smart she is.<br />
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Sign language has given us a better glimpse into what Emelyn is capable of. For the last couple of years her ABA clinic has been working on color matching with Emelyn. It’s an exercise where the learner attempts to match two colors together, such as putting a blue block into a blue cup. And for two years, she’s struggled with this seemingly simple exercise. In our effort to learn new signs, I learned to sign the book <i>Brown Bear, Brown Bear</i> by Eric Carle. She quickly, probably more quickly than me, learned the signs for all the colors and animals. And while the color matching exercise is still a struggle, ask her to label colors and she can do it with ease (except yellow). It’s the same with animals. While most kids learn to first point to label an object, Emelyn still struggles with that skill. However, if I point to an object and she knows the sign, she will promptly label that object with the correct sign. She’s recently demonstrated a knowledge of more than half of the alphabet as well—it’s been a pleasant surprise and keeps us on our toes.<br />
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<tr><td class="tr-caption" style="text-align: center;">A recent text message from Emelyn's <br />
physical therapist<span style="font-size: small; text-align: start;">—</span>they've been together <br />
for six years. There is nothing but love between <br />
them!</td></tr>
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Our children with DDX3X learn differently than typically developing children and I'm just so grateful that we're figuring out how Emelyn learns. For all of those who are struggling with language—as we were just two or three years ago—please know there is hope for your daughter or son. Keep trying new things and keep believing in her/him—and yourself!<br />
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Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-40376038929178179342018-12-29T14:23:00.001-05:002018-12-29T14:26:02.409-05:00A look back at 2018...another year of hope<div class="separator" style="clear: both; text-align: center;">
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I can look back on Emelyn’s first year and remember the heartache of missed milestones and the fear of an unknown future—for her and for us. At our first Christmas, Emelyn was nine months old. While other nine-month-olds were pulling to stand on new toys, babbling away to goofy children’s books, and eating wrapping paper, we had one wish for Emelyn—that she would soon have the ability to hold her head up. It was a simple Christmas wish, yet one that seemed so far away. Emelyn would turn one the following March and still lacked enough head control to adequately hold her head up. To say it was a tough year would be an understatement. We spent that first year grieving the loss of the child we had anticipated would join our family. In our mind, Emelyn was a child who would meet milestones like walking and talking just like her peers. This is what we each anticipate when we initially find out we’re pregnant. We are immensely grateful to have Emelyn in our lives—we were then and we still are today, but the reality is, she was not the child we dreamed of.</div>
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Fast forward five Christmas’ later and Emelyn has many more missed milestones and her future remains fuzzy, but something has changed. Our grief has been replaced with hope. We have hope that tomorrow will be better than today—even if it’s such a tiny improvement that it can’t be seen when viewed as day-to-day progress. But when we step back and look at this past year, I’m overcome with the hope for what next year has in store.<o:p></o:p></div>
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I’d like to dedicate this blog post to some of Emelyn’s major accomplishments this past year:</div>
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<b>Walking</b><o:p></o:p></div>
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Emelyn is officially a bona fide walking machine. There are several logical and not so logical things we’ve attributed to this major achievement:</div>
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<li>Physical therapy: At this point, Emelyn has likely had more than 250 PT sessions since she started PT at five months old through early intervention.</li>
<li>ABA therapy: Emelyn’s ABA plan calls for three walking sessions per day at seven minutes per session. By my estimates, that’s nearly 13,000 minutes of practice just at her ABA clinic.</li>
<li>Equipment, equipment, and more equipment: AFOs, SMOs, gait trainers, walkers, threatogs, etc.—we’ve had it all. Surprisingly, I believe it was a little pink helmet that I’ll attribute to being the best piece of equipment to move Emelyn to independent walking. It gave us all peace of mind and let her practice her walking skills on her terms.</li>
<li>Medicatio<span style="text-indent: -0.25in;">n: After reading about the cognitive improvements some other parents of children with DDX3X had reported after starting ADHD medicines, we spoke to every doctor we could about the possibility of trying similar medicines with Emelyn. Some were firmly a “no” stating that she had great attention for her developmental age, while others, like our pediatrician and developmental pediatrician, both thought it was worth trying. With the support of our developmental pediatrician, we started a very low dose of Focalin in July—Emelyn started walking just a few short weeks later. When she doesn’t have the medicine, she’s less stable and falls more frequently. Walking certainly wasn’t the outcome we were expecting, but we'll take it!</span></li>
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<b>Standing up without any assistance</b></div>
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Another incredible motor skill Emelyn has gained recently is her ability to stand up from the floor completely unassisted. I remember the first time she used a stool to stand herself up about a year ago—I was amazed. And now, she needs no assistance what so ever. <o:p></o:p></div>
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<b>Language</b><o:p></o:p></div>
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When we started ABA therapy, our number one goal was functional communication. We didn’t care if it was verbal language or some other form, but we wanted to be able to communicate with Emelyn—to know her wants, desires, needs, etc. This year we definitely got that. Last November Emelyn began using some basic signs to help her express herself. We started with a highly motivating sign for Emelyn: read. Then we added other highly motivating signs: eat, graham cracker, cereal, sing, etc. Now, she’s using 30+ signs to communicate her needs. While she still has no spoken words, we now have a much better idea of what she needs and wants. Emelyn uses an iPad to communicate as well, but I’ll be honest and say she seems to prefer the sign language. Now we use sign language as a motivator with her. Her physical therapist will tell her, “I’ll teach you a new sign if you’ll walk around the floor.” Does your five-year-old know two languages--our five-year-old does!<o:p></o:p></div>
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<tr><td class="tr-caption" style="text-align: center;">Emelyn also got a fabulous new haircut this year!<br />
We were able to donate 12 inches to hair we share.</td></tr>
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<b>Playing with her sisters</b></div>
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For many, walking was probably the most remarkable accomplishment of Emelyn's year, but for the four of us who share a household with Emelyn, it was something more subtle. Last month, Aubrey turned a cardboard box into “Aubrey’s Café” and asked me to order some food from her menu. I obliged and the next thing I knew, Emelyn followed suit. She stood at the little window and had a meaningful few moments with Aubrey as they passed plastic food back and forth to each other. Aubrey looked at me with astonishment and said, “Emelyn just played with me.” It was truly remarkable and it only took five and a half years in the making. <o:p></o:p></div>
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<tr><td class="tr-caption" style="text-align: center;">Emelyn placing her order at Aubrey's Cafe. </td></tr>
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<b>Sunday school</b></div>
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Earlier this year we joined our church and each of us found a spot to plug in—except Emelyn. Our church doesn’t have a specific special needs ministry, but that wasn’t a must for us when joining a church. We just wanted a place where we all, including Emelyn, felt at home. If you could see Emelyn on Sunday morning, you would know she feels loved at our church. Everyone knows her and interacts with her and not a sole is irritated when she decides to get vocal during quiet moments or in the middle of the sermon. That being said, we were still wanting to get Emelyn into a Sunday school class, but we were concerned that Emelyn would need an aid or one of us with her—both for her safety and for the church’s liability. Back in the summer, I was asked to serve on a committee at church—I hadn’t originally signed up (Patrick gave me the you-can’t-possibly-volunteer-for-one-more-thing look) but got a call from our pastor requesting my participation. It was on that committee that I got to know the kindergarten Sunday school teacher, Sharon, who just happens to be a special education supervisor for one of the local public schools. After a committee meeting one Sunday she expressed her interest in having Emelyn join her Sunday school class. The next Sunday, Emelyn started in Ms. Sharon’s Sunday school class. Ms. Sharon is knowledgeable about ABA principles and sign language, which makes her a perfect match for Emelyn. We are excited to see what Emelyn’s experience will be like with typically developing children her own age—after all kindergarten is coming. God certainly knows what he’s doing, sometimes before we know what he’s doing.</div>
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Overall, 2018 was a remarkable year for Emelyn. Day-after-day, Emelyn made progress toward being more independent. And with each new skill she gains, she glows with pride and excitement. For us, day-after-day, our hope for Emelyn’s future grows. No longer do we grieve the child we once anticipated. We know now, Emelyn, just the way she is, was who we were meant to have.</div>
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We are grateful for your support this past year—this journey would not be filled with hope if you weren't here with us. Thank you! May 2019 bless you and your family with hope, love, and giggles.</div>
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjbLt17Fi49qt8fCJdbwqrp-zygHKlMaY2vlra0wBABbJPx6hdnbCaKxkXKLpVgFYjx-OfV3Y3z2CaIURu4uybdbAc1Hv4CAgkChTOFby-ruT13LdYVuM66iOy85AgqILESPdTe-R4E9UU/s1600/IMG_4947.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1067" data-original-width="1600" height="213" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjbLt17Fi49qt8fCJdbwqrp-zygHKlMaY2vlra0wBABbJPx6hdnbCaKxkXKLpVgFYjx-OfV3Y3z2CaIURu4uybdbAc1Hv4CAgkChTOFby-ruT13LdYVuM66iOy85AgqILESPdTe-R4E9UU/s320/IMG_4947.JPG" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Get a picture of all three girls for the Christmas card...</td></tr>
</tbody></table>
<br />
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj2PxK55ixRQ5OXzaxHLI_XKME_EW7qhPuNKCdd6zctLJqhYp1d7yuc_hwoFm0jUw5XxTrXey1xJ0UYBUeQZrzOFZtMj3yo2PqgPmpS51pnZ0t92XiagfSAIi_zOwIEJoJokwZil40RXCQ/s1600/IMG_4904.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1067" data-original-width="1600" height="213" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj2PxK55ixRQ5OXzaxHLI_XKME_EW7qhPuNKCdd6zctLJqhYp1d7yuc_hwoFm0jUw5XxTrXey1xJ0UYBUeQZrzOFZtMj3yo2PqgPmpS51pnZ0t92XiagfSAIi_zOwIEJoJokwZil40RXCQ/s320/IMG_4904.JPG" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">...it will be easy they said...</td></tr>
</tbody></table>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEii6ny5AuXQjkK3D-TJwVMHEzA9ajHBd7JeQj1HozNro2G7r5LdGOlJz-losFT8hMtNH-DIRRicdNZYNhR-MDbiN6M4zaE2sUZ9JJOVSvcsSDkNa85P0ppOybKovQuGZCUwhctdj-_SEbQ/s1600/IMG_4896.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1067" data-original-width="1600" height="213" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEii6ny5AuXQjkK3D-TJwVMHEzA9ajHBd7JeQj1HozNro2G7r5LdGOlJz-losFT8hMtNH-DIRRicdNZYNhR-MDbiN6M4zaE2sUZ9JJOVSvcsSDkNa85P0ppOybKovQuGZCUwhctdj-_SEbQ/s320/IMG_4896.JPG" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">...they lied.</td></tr>
</tbody></table>
Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-19852657264749620302018-11-26T00:32:00.001-05:002018-11-26T00:54:04.878-05:00What we learned at the Philadelphia family conference<div dir="ltr" style="line-height: 24px; margin-bottom: 10px; margin-top: 10px; padding: 0px;">
<span style="color: #202020;"><span style="color: #444444; font-size: 12px;">Last month our family traveled to Philadelphia to take part in the 4th annual DDX3X conference. As I’ve written in previous posts, these conferences have multiple purposes, but for the sake of brevity, I’ll only highlight the research updates as it relates DDX3X in this post.</span></span><br />
<span style="color: #444444;"><span style="color: #202020;"><span style="font-size: 12px;"><br /></span></span>
<span style="color: #202020;"><span style="font-size: 12px;">Twelve world-renowned scientists traveled from around the country to participate in the conference. On the first day, the researchers participated in a roundtable discussion to share their progress and consider ways to collaborate. The following day they presented their findings to approximately 35 DDX3X families from the US and Canada. Their presentations showcased the incredible progress they have made as well as mapping out the road ahead. </span></span></span><br />
<span style="color: #444444;"><span style="color: #202020;"><span style="font-size: 12px;"><br /></span></span>
<span style="color: #202020;"><span style="font-size: 12px;">The chief researchers, the Sherr Lab at UCSF, led by <a href="http://brain.ucsf.edu/elliott-sherr-md-phd" target="_blank">Dr. Elliot Sherr</a>, continue their work to understand the basic science behind how mutations of the DDX3X gene impact brain development and function. Their work with induced pluripotent stem cells has led to a greater understanding of the expression of the DDX3X gene and its function in the development of the brain. The Sherr Lab has also enrolled over 80 DDX3X individuals in their study examining the individual’s clinical presentation and how it correlates to that individual’s unique mutation. They are also working to develop a “knock-in” mouse to examine how missense mutations affect brain development in the mouse model.</span></span></span><br />
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg7yX00UT8cdWLKr9VnP-V5E2SM50buochP9ax0LaPPDe7fUhc-esT2CjNYPGzZqjZZBfJK0c7SUiqq44HtnsiLarAOo5IMDvi0YBRrHPR7tmXcrETVQU52xcyAr_3Sd5cal0gyUwZjCHI/s1600/9E877EDE-E4BF-45FA-BCC8-4F26576F9DF1.jpeg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><span style="color: #444444;"><img border="0" data-original-height="1200" data-original-width="1600" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg7yX00UT8cdWLKr9VnP-V5E2SM50buochP9ax0LaPPDe7fUhc-esT2CjNYPGzZqjZZBfJK0c7SUiqq44HtnsiLarAOo5IMDvi0YBRrHPR7tmXcrETVQU52xcyAr_3Sd5cal0gyUwZjCHI/s320/9E877EDE-E4BF-45FA-BCC8-4F26576F9DF1.jpeg" width="320" /></span></a></td></tr>
<tr><td class="tr-caption" style="font-size: 12.8px;"><span style="color: #444444;">Emelyn befriended Ruiji Jiang, a graduate student in Dr.</span><br />
<span style="color: #444444;">Sherr's lab, in hopes of having a few clicks on his laptop. </span></td></tr>
</tbody></table>
<span style="color: #444444; font-family: inherit; font-size: x-small;"><span style="font-family: inherit; font-size: xx-small;">The Sherr Lab recently collaborated with </span><a href="https://mgm.duke.edu/faculty-and-research/primary-faculty/debra-silver-phd-2/debra-silver-phd-biography/" target="_blank">Dr. Debby Silver</a><span style="font-family: inherit; font-size: xx-small;"> and members of the Silver Lab from Duke University in a study entitled </span><a href="https://www.biorxiv.org/content/early/2018/05/11/317974" target="_blank"><i>Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development</i></a><span style="font-family: inherit; font-size: xx-small;">. This paper will be published next year. Dr. Silver also came to Philadelphia and discussed her lab’s multi-pronged approach to thinking about mechanisms of disease produced by the DDX3X mutation. In particular, her lab is interested in prenatal brain development and is using a mouse model to understand neural generation and proper neural migration.</span><span style="font-family: inherit; font-size: xx-small;"> </span></span></div>
<span style="color: #444444;"><br /></span>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiLiuMGKbTZN5qbW8tUvrEGIOqm_rSDIV92FlbXwuPNxiZ9FvMpXGgOKtF5A86nTQkNKkuuPo2GC1VedGA2xLvCHIXZwVgPzKM2GJybj0ZY3KLoBGx0vKPYu4eo6ZdW45u1knxdlMpk8n0/s1600/BADCA163-4E7B-454A-A36A-DC872CB3BAC1.jpeg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><span style="color: #444444;"><img border="0" data-original-height="1200" data-original-width="1600" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiLiuMGKbTZN5qbW8tUvrEGIOqm_rSDIV92FlbXwuPNxiZ9FvMpXGgOKtF5A86nTQkNKkuuPo2GC1VedGA2xLvCHIXZwVgPzKM2GJybj0ZY3KLoBGx0vKPYu4eo6ZdW45u1knxdlMpk8n0/s320/BADCA163-4E7B-454A-A36A-DC872CB3BAC1.jpeg" width="320" /></span></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;"><span style="color: #444444;">Mariah Hoye, a fellow and postdoctoral research associate </span><br />
<span style="color: #444444;">from Duke Institute for Brain Sciences, and Emelyn hit it off.</span><br />
<span style="color: #444444;">Mariah shared her experience at the conference in this <a href="https://www.blogger.com/Mariah%20shared%20her%20experience%20at%20the%20DDX3X%20conference%20in%20this%20article:%20https://sites.duke.edu/regenerationnext/2018/11/09/strong-community-drives-support-for-ddx3x-research/?fbclid=IwAR00BZNemvgzsJ1Klre4IOodsYHQALPEwEuAcWtEBHvmh4WobrnskRgcTq4" target="_blank">article</a>. </span></td></tr>
</tbody></table>
<div dir="ltr" style="font-size: 12px; line-height: 24px; margin-bottom: 10px; margin-top: 10px; padding: 0px;">
<span style="color: #444444; font-family: inherit;">The Seaver Center at Mount Sinai has identified DDX3X as<strong> </strong>one of its top research priorities and has a new lab, led by <a href="https://icahn.mssm.edu/profiles/silvia-de-rubeis" target="_blank"><span style="color: blue;">Dr. Silvia De Rubeis</span></a>, which is dedicated to the study of DDX3X. The lab has developed a DDX3X mouse model and is currently undertaking research on the mice to better understand the impact of the mutation on social, cognitive, sensory, and brain tissue development. Additionally, Mount<strong> </strong>Sinai is also enrolling DDX3X patients in their clinical research program to better understand the clinical aspects of the gene mutation. Mount Sinai hopes to combine the findings of these studies to identify potential therapeutics that may be ultimately brought to clinical trial.</span></div>
<div dir="ltr" style="font-size: 12px; line-height: 24px; margin-bottom: 10px; margin-top: 10px; padding: 0px;">
<span style="color: #444444; font-family: inherit;"><a href="http://www.chp.edu/our-services/rare-disease-therapy/doctors-and-staff/maria-luisa-escolar" target="_blank"><span style="color: blue;">Dr. Maria Escolar</span></a>, Director of the Program for the Study of Neurodevelopment in Rare Disorders at the University of Pittsburgh, continues to enroll families in her DDX3X natural history study. These detailed studies provide information on the course of the disorder as the children<strong> </strong>develop over time with the ultimate goal of creating a well-defined benchmark and an appropriately designed clinical trial once a therapeutic is identified. Currently, Dr. Escolar and her team have ten children enrolled in her study and continue to recruit new patients. </span></div>
<div dir="ltr" style="font-size: 12px; line-height: 24px; margin-bottom: 10px; margin-top: 10px; padding: 0px;">
<span style="color: #444444; font-family: inherit;"><a href="http://bims.virginia.edu/faculty/sanchita-bhatnagar/" target="_blank"><span style="color: blue;">Dr. Sanchita Bhatnagar</span></a> from the Neuroscience Department at the University of Virginia, attended and detailed her previous work on X reactivation for Rett Syndrome. Dr. Bhatnagar is extending this research to look at ways in which to induce the unaffected DDX3X gene in the second X chromosome to express itself.</span></div>
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEixMLqElMzlOdiejhwydNyA-E_GuRg1Ax1bBel2AW-HCyvNolouJncfsYPZL4OGYjBskrhc44Rs4plg5sZP2k9SEMS3sTW0uoYrckXdjH2zVCTgf9SjosmNIQeqkDT7pz-5wH8iwwMfgSs/s1600/21A064EA-7CA5-4C37-A5E1-34D7B38A44FA.jpeg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><span style="color: #444444; font-family: inherit;"><img border="0" data-original-height="1200" data-original-width="1600" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEixMLqElMzlOdiejhwydNyA-E_GuRg1Ax1bBel2AW-HCyvNolouJncfsYPZL4OGYjBskrhc44Rs4plg5sZP2k9SEMS3sTW0uoYrckXdjH2zVCTgf9SjosmNIQeqkDT7pz-5wH8iwwMfgSs/s320/21A064EA-7CA5-4C37-A5E1-34D7B38A44FA.jpeg" width="320" /></span></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;"><span style="color: #444444; font-family: inherit;">We were thrilled to meet Dr. Bhatnagar from UVA. We plan</span><br />
<span style="color: #444444; font-family: inherit;"> to visit her on our next trip to UVA with Emelyn.</span></td></tr>
</tbody></table>
<div dir="ltr" style="font-size: 12px; line-height: 24px; margin-bottom: 10px; margin-top: 10px; padding: 0px;">
<span style="color: #444444; font-family: inherit;">The DDX3X Foundation, which has no paid staff, has reached a critical point where we have an extraordinarily teams of researchers focused on curing this condition, but more funding is needed to expand resources. Because of the leadership of parents, 100% of all money raised goes directly towards research.</span><br />
<span style="color: #444444;"><span style="font-family: inherit;"><br /></span>
<span style="font-family: inherit;">Our family is grateful to this incredible team of researchers and the parent leadership of the DDX3X Foundation for making the 4th annual conference a reality. Assembling twelve world-renowned scientists in a room together, plus coordinating food, hotel, and activities for 35 special needs families is no easy feat, but a group of dedicated parents, led by Beth Buccini and Liz Berger, made it happen.</span></span><br />
<span style="color: #444444;"><span style="font-family: inherit;"><br /></span>
<span style="font-family: inherit;">Our family is doing our part—we have enrolled Emelyn in multiple DDX3X studies; we travel to DDX3X conferences to meet other families and researchers (often giving up our own vacations); we write (ok, I write, Patrick proofreads) website copy, blog entries, and even a thesis about DDX3X; we share in successes and heartbreak with other families as we raise children with similar challenges to Emelyn; and we raise money to further research.</span></span><br />
<span style="color: #444444;"><span style="font-family: inherit;"><br /></span>
<span style="font-family: inherit;">We invite you to join us in our efforts by making a tax-deductible donation to the DDX3X Foundation in honor of Emelyn at </span><a href="http://ddx3x.org/" style="font-family: inherit;">ddx3x.org</a><span style="font-family: inherit;">.</span></span><br />
<span style="color: #444444;"><span style="font-family: inherit;"><br /></span>
<span style="font-family: inherit;">Our family thanks you in advance for your consideration!</span></span></div>
Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-42334703730422411292018-11-11T00:40:00.000-05:002018-11-11T00:47:48.264-05:00Navigating the rough seas that come with advocating for your childIf you've ever sat through an IEP (individualized education plan)
meeting, you've likely found yourself confused, determined, frustrated,
curious, optimistic, pessimistic, and a hundred other competing emotions. And
it's not just parents, I know educators who feel the same way in these
meetings. None of our children, special needs or not, come with a road map. And
when parents and educators sit down at the conference table for an IEP meeting,
tensions about what's the best educational path are inevitable.<br />
<div style="margin-bottom: .0001pt; margin: 0in;">
<br /></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="color: black;">In 2015, when Emelyn was approaching three years old, we began the
intake process for her IEP at our local school system. Despite my best
research, I still felt unprepared, confused, and timid. Were we walking the
correct path, with the correct people, with the correct goals? I had no idea,
but January of 2016 came and we signed the IEP and sent Emelyn off to the local
school system’s preschool special education program. <o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<br /></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="color: black;">Fast forward several months and it was clear our IEP was not a
success. Emelyn was not making progress—if anything, we were seeing regression
since her departure from early intervention. After several meetings we decided
to pull her out of the school system and enroll her in an ABA-based clinic.
(See my two other blog posts about our ABA experience: </span><a href="http://raisingemelyngrace.blogspot.com/2016/09/new-diagnosis-new-therapy-new.html" target="_blank">New diagnosis, new therapy, new
opportunities</a><span style="color: black;"> and </span><a href="http://raisingemelyngrace.blogspot.com/2017/11/abait-may-not-be-what-you-think-it-is.html" target="_blank">ABA, it may not be what you
think it is</a><span style="color: black;">.) <o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<br /></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="color: black;">ABA was an immediate success for Emelyn. Within weeks of starting she
gained skills we thought were years in the making. And she began opening up to
the world around her. I’m convinced, more than two years later, she would not
be where she is at today without the wonderful people and solid plan at her ABA
clinic. They love her and they push her to be the best Emmy she can be. But,
her time at her phenomenal ABA clinic will come to an end in 2019. She will age
out of their program and we will return to the school system to continue
Emelyn’s educational journey. This time, though, I will be a different kind of
advocate for Emelyn. I have experience and knowledge that I didn’t have last
time. <o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<br /></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
This time last year, as I approached my final essay for my
master’s degree, I sat with my advisor, curious about how in the world I was
going to find inspiration to fill approximately 50 pages with coherent and purposeful words. With
a broad umbrella of leadership, my advisor asked me what I was curious about
and what would be meaningful for me to research and write about. Without much
hesitation I shared my frustrations with advocating for Emelyn in an
educational setting—how I lacked confidence in the next best steps, how the
relative newness of DDX3X meant there wasn’t much data, and how I wasn’t alone
in these feelings. And an idea was born. <o:p></o:p></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<br /></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="color: black;">Before I could write a word, I needed data—there was a tremendous amount of informal data floating around our private DDX3X Facebook group, but I needed data
suitable for a scholarly publication. Collecting data on human subjects
requires involvement from the Institutional Review Board (IRB) and when you’re
talking about a vulnerable population, they (understandably) make sure you follow all the rules. Their approval process
took two months, an 18-page application, and a lengthy survey. Once I had the
IRB seal of approval I started collecting data and researching relevant
peer-reviewed journals. I probably could have researched the thing to the end
of the internet, but luckily my advisor, the wise Abrina Schnurman Crook, Ph.D,
reeled me in. At last, after months of writing, my final essay was off to the
second reader and this is where I held my breath. The second reader and
director of the MALS program at Hollins University is a well-respected, retired
superintendent of schools, Lorraine Lange, Ed.D. Would she tear it apart or
bless it? <o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<br /></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="color: black;">To my pleasant surprise, my final essay received her blessing
(with a few small changes, mainly to grammar because let's be honest, that's not my thing) and
I had the last requirement for graduation complete. My master’s journey came to
an end. I’m embarrassed to admit, that was more than eight months ago. From
time to time I talk to different DDX3X parents and share the completed essay to
help them on their educational journey, I just haven’t devoted the time to sit
down and prepare a blog post dedicated to sharing it broadly. Shame on me. But,
finally, without further delay, here it is: <o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<br /></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="color: black;"><a href="https://drive.google.com/file/d/1wD03awHp0zmnOxnZ2_vyb2mm4m-ARNP4/view?usp=sharing" target="_blank">Leadership Strategy Manual for Navigating Elementary School Services for Children with a DDX3X Genetic Mutation</a> (Also available for
download on <a href="https://digitalcommons.hollins.edu/malsfe/17/">Hollins Digital
Commons</a>.) <o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<br /></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="color: black;">You’ll find I grouped the essay by barriers—barriers our children
face as a result of their DDX3X mutation, barriers our children face in the
school system, and barriers parents face as they advocate for their child during
the educational journey.<o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<br /></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="color: black;">Is the essay perfect? Most definitely not, but it’s a start. If
you’re a parent wondering aimlessly on the educational journey, I hope its
content will provide guidance and direction to you. That is its intent—to help
you navigate the rough seas that come with advocating for your child. <span style="font-size: 13.5pt;"><o:p></o:p></span></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="color: black; font-size: 13.5pt;"><br /></span></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhzNwnJVCdgUV2eL2jLKTrF7rNkluhXMWiPonSVavBfrm7OzmWYFcTeAQDutFPfOeLZKW3bPaQGkUkyMPcm9Zq4Q3-6dzaeMbY5lLeEgJS2uf9GOkr_kO1lo573ndnmiVbtSKvScguuCzs/s1600/IEP_post+1.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="960" data-original-width="720" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhzNwnJVCdgUV2eL2jLKTrF7rNkluhXMWiPonSVavBfrm7OzmWYFcTeAQDutFPfOeLZKW3bPaQGkUkyMPcm9Zq4Q3-6dzaeMbY5lLeEgJS2uf9GOkr_kO1lo573ndnmiVbtSKvScguuCzs/s320/IEP_post+1.jpg" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Graduation day with Patrick and Aubrey. <br />
It was a gorgeous day on the Hollins campus.</td></tr>
</tbody></table>
<br />
<br />Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-24420346615768935082018-05-15T22:55:00.001-04:002018-11-10T23:57:57.822-05:00Q & A about Emelyn’s natural history study experience in Pittsburgh<br />
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Two weeks ago, we headed to <a href="http://www.chp.edu/">Children’s Hospital of Pittsburgh of UPMC</a> (CHP) for a natural history study. It was a great trip and it’s taken me two weeks to pull out the important pieces into a Q & A for other parents considering a trip to Pittsburgh.</div>
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<tr><td class="tr-caption" style="text-align: center;">The Pittsburgh skyline from Mount Washington.</td></tr>
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My goal of this post is to help you understand our experience and determine if taking part in the natural history study is right for your child and family.</div>
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<b style="mso-bidi-font-weight: normal;">Why does a natural history study matter?</b></div>
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First, you may be wondering, what is a natural history study? Until last fall I couldn’t answer that question. It was on our DDX3X trip to San Diego that two of Dr. Maria Escolar’s associates explained what a natural history study is and why it’s important.</div>
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Rare diseases, especially newly discovered disorders like DDX3X, are poorly understood. There are only a handful of patients in the world and each patient, typically, has a different doctor. With such a limited pool of patients and small number of treating doctors, knowledge about DDX3X is siloed. When many patients come to one doctor, like Dr. Escolar, and go through a series of evaluations, imaging, and exams, their journey adds to a collective body of knowledge. Dr. Escolar’s interest is to follow our affected children over time to collect health and development information to shine light on DDX3X.</div>
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On a micro level, natural history studies benefit the participating family. Dr. Escolar, who has seen approximately eight children with DDX3X as of our visit on April 30, 2018, can offer far more expertise than our Virginia-based pediatrician and developmental pediatrician. We are very pleased with the care our local pediatrician and developmental pediatrician offer us, but they’ve never treated another child with DDX3X (that they know of anyway), so their knowledge of DDX3X is narrow. Fortunately, their expertise in working day-in and day-out with children with special needs makes them highly skilled at helping us navigate our journey with Emelyn. However, they’re at a disadvantage due to the rare nature of DDX3X. For that reason, both our pediatrician and our developmental pediatrician urged us to participate in the natural history study with Dr. Escolar. And both are eager to see the final report from Dr. Escolar.</div>
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On a macro level, natural history studies advance collective knowledge and influence research. The collective data from all the participants can be used to gain insights on the progression of the disorder, evaluate currently available treatments, therapies, and pharmaceutical that offer benefits, and contribute to future development of potential treatments, therapies, and/or medication. Because there is no known treatment, therapy, and/or pharmaceutical to “cure” DDX3X, these natural history studies show outcomes in absence of intervention. That’s important should an intervention (such as gene therapy or a pharmaceutical) become available—the collective data from the natural history studies can serve as the control group. It’s the baseline to show the FDA the disease course for untreated patients. But more importantly, development of a “cure” requires a deep understanding of the rare disease which can only happen through studies such as natural history studies.</div>
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<b style="mso-bidi-font-weight: normal;">What is the basic flow of your time at CHP?</b></div>
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Each patient’s journey is a little different depending on when the MRI scanner is available and when different therapists are available. Below is our itinerary as an example only. Expect your itinerary to include the same basic experiences, but the order and timing will likely differ.</div>
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<u>Day #1: </u></div>
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On Monday afternoon we met with <a href="http://www.chp.edu/find-a-doctor/service-providers/maria-escolar-123540">Dr. Maria Escolar</a>. Before our meeting, Emelyn spent the morning being evaluated by a team of folks. Emelyn really enjoyed all the therapists and Dr. Escolar. She was fully cooperative and full of giggles all day. They did a wonderful job of making Emelyn think she was part of a fun day where she was the center of attention. Each therapist was patient and engaging, plus they all used ASL (sign language) to communicate with Emelyn. You can tell Dr. Escolar and her team enjoy their work.</div>
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Behavioral audiology evaluation: This is basically a series of hearing tests that rely on a child’s behaviors versus spoken words. It took about 45 minutes.</div>
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<tr><td class="tr-caption" style="text-align: center;">Sarah was the clinical audiologist who examined Emelyn.</td></tr>
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Physical therapy evaluation: This is a familiar evaluation for many of us. Emelyn climbed stairs, walked, stood up, stand down, etc. We brought a few books from home to help with positive reinforcement to encourage Emelyn to show off her skills.<br />
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<tr><td class="tr-caption" style="text-align: center;">Shannon conducted Emelyn’s PT evaluation.</td></tr>
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Speech and cognitive evaluation: This session consisted of several tasks and questions to determine Emelyn’s speech and cognitive levels. While I don’t think these tests are perfect, I didn’t see anything that surprised me in her abilities or inabilities to complete the tasks or requests.<br />
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<tr><td class="tr-caption" style="text-align: center;">Allison and Emelyn “played” several games together.</td></tr>
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Physical exam with Dr. Escolar: Throughout the morning and early afternoon we didn’t see Dr. Escolar, but she was clearly following up with each of the above folks to review their findings. After she examined (i.e. played with) Emelyn, we sat down and chatted for more than an hour. Not only was she fully informed of all the assessments Emelyn had just gone through, she had thoroughly reviewed Emelyn’s medical records and was prepared to answer the questions we had submitted on our paperwork. It was refreshing honestly. I can’t tell you how many doctors we’ve met with who clearly haven’t read the paperwork we’ve spend a significant amount of time completing.<br />
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<tr><td class="tr-caption" style="text-align: center;">Dr. Escolar examining Emelyn. There were lots of giggles.</td></tr>
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<u>Day #2:</u></div>
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On Tuesday morning Emelyn had an MRI under general anesthesia. We arrived at CHP at 7 am to be prepped for an 8 am scan. Once again everyone was great with Emelyn. While we were waiting for Emelyn, Deanna Steele, a genetic counselor who works with Dr. Escolar, came to speak with us. Her goal was to answer genetics-related questions we might have and complete a quick genetics questionnaire for the natural history study. </div>
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<tr><td class="tr-caption" style="text-align: center;">Emelyn waiting for her MRI scan.</td></tr>
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The MRI was the only part of our trip that didn’t go smoothly. Emelyn became very combative and her heart rate jumped up for about ten minutes as she was coming out of the anesthesia. After a hectic ten minutes, she dozed for about 20 more minutes and woke up without any trouble. We're blaming it on the red hair. We were on the road by 11 am to head back home.</div>
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<b style="mso-bidi-font-weight: normal;">What did you learn?</b></div>
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The feedback we received based on all the tests/assessments was similar to what we’ve heard from our local developmental pediatrician (just more in-depth), so that was good— it told us we’re on the right path. A summary of our visit was posted immediately on <a href="http://www.chp.edu/for-parents/health-tools/mychp">myCHP</a> and we expect a full report in the next week or so. Here is a quick summary of Dr. Escolar’s insights and recommendations for Emelyn:</div>
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<li>Emelyn's physical therapist should work on her protective reflexes. She's still exhibiting some of her infant reflexes which could be deterring her from walking.</li>
<li>Emelyn should utilize an augmentative device to better communicate. While she’s showing significant advances with using sign language, her fine motor skills are only at an 18-month level, whereas her receptive language is at least at a 24-month level. This leads Dr. Escolar to believe Emelyn may be frustrated that she can’t express everything she has to say using sign language because her fine motor skills are holding her back.</li>
<li>Because Emelyn uses movements to compensate for her low muscle tone and for sensory issues, Dr. Escolar doesn’t recommend the use of any medications to help with her movement disorder. (This was a question our development pediatrician at UVA posed.)</li>
<li>Emelyn's developmental age correlates with her attention span, therefore, Dr. Escolar did not recommend using any medications for attention deficit. (This was one of our questions...to medicate or not?)</li>
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<span style="text-indent: -0.25in;">We did ask what consistent barriers Dr. Escolar is seeing in our DDX3X children and not surprising her response was: language. Even girls who have language struggle with language. Some see a regression of their language skills whereas others, like Emelyn, are completely nonverbal. I'll be very interested to hear her present later this year in Philadelphia at the 4th annual DDX3X family conference after she's seen even more children.</span></div>
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<b style="mso-bidi-font-weight: normal;">Was the experience valuable?</b></div>
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Yes! We’ll likely go back next summer before Emelyn starts school. Dr. Escolar seems to have an interest in helping parents get their kiddos what they need from an educational standpoint and I anticipate needing her support with our local school system when the time comes. Her testing/assessments were very thorough—far more so than anything we’ve been through before. Bottom line, it was worth the trip.</div>
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<b style="mso-bidi-font-weight: normal;">How did we enroll Emelyn in the natural history study?</b></div>
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We contacted Mary Brannaman, Program Coordinator for Program for the Study of Neurodevelopment in Rare Disorders at Children’s Hospital of Pittsburgh of UPMC:</div>
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451 44th Street</div>
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Plaza Building, Fourth Floor</div>
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Suite 407</div>
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Pittsburgh, PA 15201-1138</div>
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Mary.Brannaman@chp.edu</div>
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P: 412-692-6350</div>
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Mary sent us several pages worth of paperwork to get the process started. Once the paperwork was returned, Mary worked with us on scheduling. Mary was super patient with me as I was very particular about scheduling Emelyn an early MRI appointment. She diligently worked her magic to orchestrate all the appointments into one and a half days. Once it was all finalized, we received an itinerary with all the details outlined. You’ll want to print this out and bring it with you.</div>
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<b style="mso-bidi-font-weight: normal;">What are the lodging options?</b></div>
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<span style="mso-bookmark: _Hlk513582095;">Mary helped us with lodging as well. She made our reservations at the </span><a href="http://hiltongardeninn3.hilton.com/en/hotels/pennsylvania/hilton-garden-inn-pittsburgh-university-place-PITUCGI/index.html"><span style="mso-bookmark: _Hlk513582095;">Hilton Garden Inn/Pittsburgh University Place</span></a><span style="mso-bookmark: _Hlk513582095;">. </span>For our two nights, we paid $299.92 ($114/night for the room, $20/night for parking, plus taxes and fees). Considering it was graduation weekend for University of Pittsburgh this rate was very reasonable, however, there may be other option. I honestly didn’t do my research. A couple things to note about this hotel based on our experience:</div>
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<li>There is no pool. With girls who love water, I felt that was worth mentioning.</li>
<li>I didn’t find the shuttle to be worth the effort. It was well-worn and smelled like fuel, plus by the time you tip your driver each way, you might as well pay for parking (assuming you have a car). We also had to board the shuttle from the main level of the hotel which wasn’t easy to get to with a stroller/wheelchair. It required a wheelchair lift (or a Patrick to just carry Emelyn up and down the stairs in her stroller).</li>
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Mary also connected us with the <a href="https://rmhcpgh-mgtn.org/family-services/pittsburgh-house/">Ronald McDonald House</a>, however, we did not end up staying there. While we did fill out the necessary paperwork to be added to the waiting list (they do not have reservations like a hotel), I missed the call from them on the morning we were traveling to Pittsburgh. Once we got on the road I realized that I had missed the call and I called back. No one answered so I had to leave a message, but I never received a return call. I assume the call was to tell us we had a room, however, since they didn’t leave a message and I was unable to speak to anyone I’ll never know.</div>
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Staying at the Ronald McDonald House is an affordable and convenient option. NDRD is located in the Plaza Building which also houses the Ronald McDonald House (it’s really a hotel-like building, not a house), so you’re right there for your appointments with Dr. Escolar. From the Plaza Building, there is a breezeway that connects to the hospital for the MRI, hearing screening, and cafeteria. It’s certainly a worthwhile option to consider, just be vigilant about answering your phone the morning you head to Pittsburg and have a backup hotel reservation (which Mary can help you with).</div>
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<b style="mso-bidi-font-weight: normal;">What tips do you have?</b></div>
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Don’t rush yourself. Plan to travel the day before your appointment to allow for a full night of sleep the night before. While you can do everything in one day, I recommend scheduling the audiology appointment and all of Dr. Escolar's assessment on the first day and then the MRI for first thing the second day. Emelyn’s scan was at 8 am (7 am arrival at CHP) and we were on the road by 11 am to head back home.</div>
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Bring or purchase snacks for your time in the NDRD. It’s a long day. We started with audiology at 8:30 am and didn’t wrap up with Dr. Escolar until after 2 pm. There isn’t much waiting between each assessment, which is nice because it keeps things moving, but also didn’t allow for lunch. We were able to grab a snack between each session to keep from getting too hangry. (The cafeteria is close by and has lots of snack options, but don’t plan on being able to sneak off to the cafeteria, grab them before you get started.) </div>
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<tr><td class="tr-caption" style="text-align: center;">Emelyn enjoying some grapes after seeing Dr. Escolar.</td></tr>
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Children's Hospital of Pittsburgh is ranked one of America's best children's hospitals. If you need to see a specialists because you don't have access to one where you live or you want a second opinion, ask Mary for help scheduling an appointment while you're in Pittsburgh.</div>
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Sign up for <a href="http://www.chp.edu/for-parents/health-tools/mychp">myCHP</a> so that you can access your child's health information online. It's very easy and convenient once you get back home.</div>
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Print Mary’s itinerary and bring it with you. It’s your roadmap for your time at NDRD/CHP.</div>
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Don’t worry with the hotel shuttle. Travel around Pittsburgh isn’t difficult and parking at CHP (via the Mid Campus Garage) is only $7.</div>
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If you want to stay at the Ronald McDonald House…answer your phone. They don’t leave messages and didn’t return my phone call.</div>
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Check out Pittsburgh while you're there. We rode <a href="http://www.duquesneincline.org/" target="_blank">The Duquesne Incline</a>. It provided wonderful views of the city from atop Mount Washington. At $5 per person round trip, it's a bargain-priced experience.</div>
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg4xTUKhSlmCEdG6oOrYNTJiAadufA9EL9m4WffhqphJ5-R1GxC4fTyU7QYy1gE3LUwI9JO0aeOY2k-XcNX82n77PgCmyY3VBhl7sztyyEndZ7iwVkDVVC0eziDyete90wohyrBwY8On5Q/s1600/IMG_0810.jpg" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1200" data-original-width="1600" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg4xTUKhSlmCEdG6oOrYNTJiAadufA9EL9m4WffhqphJ5-R1GxC4fTyU7QYy1gE3LUwI9JO0aeOY2k-XcNX82n77PgCmyY3VBhl7sztyyEndZ7iwVkDVVC0eziDyete90wohyrBwY8On5Q/s320/IMG_0810.jpg" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Emelyn checking out the skyline of Pittsburgh from inside<br />
the 100+ year old cable car on The Duquesne Incline.</td></tr>
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If you have questions I don’t address above, please reach out to me at jamiesnead@outlook.com and I’ll gladly answer your questions. </div>
Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com2tag:blogger.com,1999:blog-3894106909147217036.post-50656412518203258632018-05-05T21:27:00.000-04:002018-05-05T21:27:45.450-04:00I have a confession to makeConfession: This blog exists for many reasons and one of those reasons isn’t all that altruistic.<br />
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Here are the five reasons this blog exists:<br />
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Reason #1: I want to be a resource for families. When we received Emelyn’s diagnosis in September of 2015 there was only one medical journal about mutations in the DDX3X gene and their link to developmental delays and intellectual disabilities. There was no website, no foundation, no video, no brochure...nothing! This blog was my way of giving DDX3X a real spot on the world wide web for folks to learn about DDX3X.<br />
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Reason #2: Writing is a form of therapy for me. Each blog post allows me to unpack the latest Emelyn happenings, be it joyful or challenging, in a deeply reflective way. While writing does not possess this kind of therapeutic power for everyone, it certainly does for me.<br />
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Reason #3: Language matters. I’ve developed a love of language over the last few years and it’s important for me to put thought and intention into how I frame up Emelyn’s strengths and weaknesses. I never want to speak about Emelyn in a way that evokes pity or paints an unrealistic picture. This is especially important for families who just received their child’s diagnosis. I want them to leave my blog with hope for their daughter.<br />
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Reason #4: Emelyn has a fan club made up of family, friends, church members, co-workers, friends of friends, doctors, therapists, researchers, teachers, and even perfect strangers. These are the people who love and pray for Emelyn, donate money to the <a href="https://www.delcf.org/donations/ddx3x/" target="_blank">DDX3X Foundation</a> in honor of Emelyn, fight insurance companies and school systems on behalf of Emelyn, and cheer for Emelyn at each and every accomplishment. Because of the love from these folks, it’s important to me that I keep folks informed of how Emelyn’s doing.<br />
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Reason #5: Lastly, and here is where the confession comes in, this whole blog thing was a course requirement. Yes, that’s right, I had to do it! In early September of 2015, as I sat in my fourth course for my masters degree, I was informed by Dr. Ken Nicely that one of the course requirements was to start a blog. Seriously! What the heck was I going to start a blog on? Couldn’t I just write a paper or take a test. Then, as divine destiny would have it, just a few days later came the call from our genetics counselor with Emelyn's DDX3X diagnosis. It was that sequence of events that led to this blog.<br />
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While that course ended in December of 2015, the blog has lived on. No longer is this blog a four-credit course requirement for graduation—instead it’s a labor of love to share Emelyn’s story with you and to raise awareness about DDX3X.<br />
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It’s not always easy to keep current on the blog—for me as the writer and for you as the reader. We live busy lives. Some days I grow weary of writing. Between work, school, and volunteer work I have far more screen time that I’d like, but today I had confirmation that this blog matters. A mom from Australia was doing what every mom does when you have an undiagnosed child and desperately needs answers—she turned to the internet. This particular mom found this blog and saw her daughter in the words and photos of Emelyn. She visited <a href="http://ddx3x.org/">DDX3X.org</a> to further her research. With her momma-gut guiding her, she consulted her daughter’s doctor and requested they look for a change in her daughter's DDX3X gene. Turns out, her momma-guy was right. Her daughter has a mutation in her DDX3X gene. Not only did this blog get me an A back in 2015, it got a family answers and direction.<br />
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So here is where I’m going to get a little sappy in you. Do you ever feel like God has a plan for you? I certainly do. He knew good and well that I wasn’t going to start a blog on my own—He (through Dr. Nicely at Hollins University) had to make it a course requirement to get me started. And because of that course requirement I’m helping others get answers to the questions they have about their child.<br />
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So, there you have it, I’ve confessed my intentions and I have to say, I’m proud of this little venture. And I’m proud of you, my faithful readers, for sticking with me. Your support means so much to our family.<br />
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(I leave you with the following video of Emelyn sporting her new helmet and walking like a champ.)<br />
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<iframe width="320" height="266" class="YOUTUBE-iframe-video" data-thumbnail-src="https://i.ytimg.com/vi/vo8R1NNOv-o/0.jpg" src="https://www.youtube.com/embed/vo8R1NNOv-o?feature=player_embedded" frameborder="0" allowfullscreen></iframe></div>
<br />Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com7tag:blogger.com,1999:blog-3894106909147217036.post-4764588794277400512017-11-23T22:15:00.000-05:002017-12-27T09:43:26.147-05:00What we learned at the San Diego family conference<div class="MsoNormal">
On November 2, Patrick, Aubrey, Emelyn and I boarded a plane to San Diego where we spent four days with nearly 30 other DDX3X families. There are two reasons we make the trip to these family weekends. First, we have the chance to spend time with families who get what it’s like to have a daughter with DDX3X. They understand the struggles and the joys. We learn from them and they learn from us. We share a powerful connection and it’s important to nurture that bond. Secondly, we get to hear from medical professionals who are actively researching the DDX3X mutations. At the bottom of this post, I’m including bios for the medical professionals who were in attendance at our San Diego family day.</div>
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<tr><td class="tr-caption" style="text-align: center;">Sisters enjoying the world at 25,000 feet.</td></tr>
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The first three days were filled with fun family activities…Sea World, music therapy, swimming, and more. </div>
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The final day was the family conference. (Check out this <a href="http://www.sandiegouniontribune.com/business/biotech/sd-me-genetic-disease-20171105-story.html">article</a> from the San Diego Tribune about our DDX3X family day.) It was packed with so much great information from the medical team that it’s taken me nearly two weeks to distill it all down into the following key points:</div>
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<b>DDX3X Foundation dollars are already advancing our understanding of the DDX3X gene… </b></div>
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Pediatric Neurologist Elliott Sherr, MD, PhD at the University of California, San Francisco is heading up research to better understand the function of the DDX3X gene—what does it do in its normal, non-mutated form and what happens to its function when it mutates? The funds raised are paying for the scientists who are exclusively studying DDX3X at Dr. Sherr’s lab. Additionally, the funds have enabled the creation of a mouse model. (And if you’re a science geek, then you’ll be excited to know that <a href="https://www.livescience.com/58790-crispr-explained.html">CRISPR</a> technology was used to create the mouse model.)</div>
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Dr. Sherr and his research team have already made a number of significant advances in the short time they have been working on DDX3X. Nearly 70 children, including Emelyn, have enrolled in a study where we shared MRI scans, genetic information, saliva samples, and developmental data. From that information, Dr. Sherr and his team have tabulated the data and made several observations so far:</div>
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MRI scans show a small/thin corpus callosum (this is the band of nerve fibers joining the two sides of the brain), a smaller cingulum bundle (this is the nerve cell highway), and, in about a quarter of the girls, abnormally folded brain tissue known as polymicrogyria or PMG.</div>
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<i>Emelyn does not have PMG but does have a “diffusely thin corpus callosum,” as well as a “small and deficient dorsal cingulum bundle” (dorsal means back) and “missing ventral cingulum bundle” (ventral means front). She also has a small, underdeveloped hippocampus.</i></div>
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The type and location of the mutation on the DDX3X gene appear to correlate to the individual’s level of function. There are four types of mutations that can happen: missense, nonsense, frameshift, and splicing. These mutation types can happen at various places on the DDX3X gene. It appears that about 90% of mutations happen inside the helicase, which is on the last two-thirds of the gene.</div>
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<i>Emelyn’s mutation is a frameshift mutation occurring at Isoleucine 214, changing what should have been an amino acid to a threonine residue, creating a premature stop codon at position 7 of the new reading frame, i.e. p. Ile214ThrfsX7. What does all that mean? It means this “spelling error” causes a loss of normal protein function. From what I can tell (keep in mind my last biology class was in tenth grade), Emelyn’s mutation, at Isoleucine 214, happens about a third of the way into the sequence causing the protein to be more altered than someone with a mutation further down the sequence.</i></div>
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<tr><td class="tr-caption" style="text-align: center;">Why, oh why, didn't I pay better attention in high school biology.</td></tr>
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Additionally, Dr. Sherr and his team are studying both normal DDX3X genes and mutated DDX3X genes in a test tube model in order to better understand how a normal DDX3X protein functions. So far they have learned that a normal DDX3X gene unwinds quickly, whereas a mutated DDX3X gene unwinds at a slower pace. In other words, the mutated DDX3X gene does not function at 100% like a normal DDX3X gene. When the time comes, the model used to study function can be adapted to use drug screening technology to test hundreds or even thousands of candidate drugs in a single day.</div>
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<b>Dr. Sherr is confident that his team can dramatically accelerate their efforts, continue to make significant advances, and move closer to a viable treatment for girls with DDX3X. However, in order to keep him and his team going, we have to keep funding coming. </b></div>
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The next step is to create stem cell lines to better understand how normal DDX3X functions to maintain cell health. Then, develop an understanding of how specific mutations in DDX3X affect how that cell functions. Emelyn and I had blood drawn in California for this process, as did a few other mother/daughter pairs. Stem cell lines will be made from our blood to advance understanding of both normal DDX3X and mutated DDX3X.</div>
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Additionally, a mouse model is already in the initial stages as mentioned above. The model will be genetically engineered to address two key biological questions:</div>
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<li>Can the mouse model (with the same mutations as our girls) show similar physiological and cognitive challenges as girls with a DDX3X mutation?</li>
<li>If a mouse is born with a DDX3X mutation, can the team genetically engineer the mouse after birth to a mouse without a DDX3X mutation? This will help the team understand whether fixing the biology of DDX3X after birth can lead to a better or even normal developmental outcome.</li>
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<b>Not only are our DDX3X girls rare, so are DDX3X parents…</b><br />
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The DDX3X Foundation was created in 2016 by two DDX3X moms, Beth and Liz. They are working moms who have taken on the role of co-presidents of the DDX3X Foundation as a volunteer gig. Beth’s daughter was the first person diagnosed with DDX3X. She is our connection to Karlla (see below). Liz’s daughter was also diagnosed shortly after the discovery of DDX3X. She is our connection to Dr. Sherr. These two moms, plus a team of other moms and dads (including our family), are fully vested in raising awareness for DDX3X and continuing to fund the research being led by Dr. Sherr’s team.</div>
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<tr><td class="tr-caption" style="text-align: center;">DDX3X moms and dads united with researchers to help<br />
our gives live the richest lives possible.</td></tr>
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Over the past year, our DDX3X family group has fundraised to provide Dr. Sherr and his team approximately $115,000. We need an additional $60,000 before December 31, 2017, to keep devoted scientists working on DDX3X. In 2018, we’ll need another $120,000. Dr. Sherr and his team are working to publish a peer-reviewed paper detailing what he and his team have learned about DDX3X so far. The hope is that the paper, which is about a year from publication, will garner attention from the National Institute of Health (NIH) to help accelerate our funding stream because advancing this to the level of a viable treatment will require $1 to $2 million dollars a year in the very near future. Until then, it’s up to the DDX3X parents to reach out to our networks to raise the funds.</div>
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<b>You can help us get there…</b></div>
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Will you consider a donation to the DDX3X Foundation to advance research? You won’t just be helping Emelyn, you’ll be helping the approximately 160 diagnosed girls, plus the nearly 15,000 estimated undiagnosed girls who likely have DDX3X. And cracking the code on DDX3X will open doors to treating other rare diseases as well. The impact of this research is far-reaching. Contributions are coordinated through the Delaware Community Foundation and are tax-deductible. You can make a donation online at <a href="https://delcf.org/donations/ddx3x/">delcf.org/donations/ddx3x</a> or you can mail a check, made payable to the Delaware Community Foundation, to PO Box 1636, Wilmington, DE 19899 (don't forget to put DDX3X Fund in the memo line).</div>
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhrYm7xOLW16pX8ORFMYu826xjlmkbuIrnWapOhFjd88oDb3UFDeBAOid6NcfCKP6rriFEjMtwi17QH-N_5Chx0sWb1PRDkxJoac78BzeH1NBztCwyn82sSlsdZ8a2Cf6oDMSYX2-lYP5M/s1600/IMG_3566.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1200" data-original-width="1600" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhrYm7xOLW16pX8ORFMYu826xjlmkbuIrnWapOhFjd88oDb3UFDeBAOid6NcfCKP6rriFEjMtwi17QH-N_5Chx0sWb1PRDkxJoac78BzeH1NBztCwyn82sSlsdZ8a2Cf6oDMSYX2-lYP5M/s320/IMG_3566.JPG" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Dr. Sherr was humble in his gratitude for our support,<br />
both financially and through our participation in the ongoing<br />
DDX3X study.</td></tr>
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<b>Thank you for your support along our journey…</b></div>
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I’m grateful you just spent the last 15 minutes reading this mammoth post that likely taxed your brain. But more than that, I’m grateful you love and care for our sweet Emelyn. It means more than you will ever know to have you on our journey.</div>
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<tr><td class="tr-caption" style="text-align: center;">I can't explain it, but every time I fly I crave Chinese food.<br />
Immediately after the conference we headed to the airport<br />
and had Chinese, of course. When I opened Emelyn's<br />
fortune cookie it was empty. I'm still philosophizing about<br />
the meaning of her empty cookie, but it gave me tingles<br />
about her future.</td></tr>
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<b>Dr. Sherr and his team: </b></div>
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<b><a href="http://brain.ucsf.edu/elliott-sherr-md-phd">Elliott Sherr, MD, PhD</a></b> is a professor in neurology and pediatrics at the Institute of Human Genetics and the Weill Institute of Neurosciences at the University of California, San Francisco (UCSF). He co-directs the Comprehensive Center for Brain Development at UCSF. In this capacity, he cares for children with neurodevelopmental disorders, including autism, intellectual disability, and epilepsy. In addition, he directs the Brain Development Research Program, a group that studies the genetics and biology of autism, and other disorders of neurodevelopment. The lab uses gene discovery to understand how disruption in brain development may lead to cognitive and behavioral impairments and they leverage these models as a basis for developing novel therapeutics. Dr. Sherr’s specific areas of interest include the development of proteomic biomarkers to enable early detection and treatment for autism, and the study of a newly recognized common cause of developmental delay in girls, the gene DDX3X. His lab has directed a large multisite brain imaging study that is helping to connect changes in brain structure and function to the clinical deficits observed in autism (Simons VIP). Dr. Sherr is also a member of a large epilepsy genetics consortium (Epi4k), for which he led a team that advanced our understanding of the genetic causes of severe childhood epilepsies. For his research, Dr. Sherr was the 2006 recipient of the Philip R. Dodge Young Investigator Award from the Child Neurology Society.</div>
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Dr. Sherr is a native of California and completed his undergraduate degree in philosophy and biology at Stanford University. He obtained his M.D. and Ph.D. at Columbia University in New York and completed his clinical training in pediatrics and neurology at UCSF. He lives in San Francisco with his wife, a biotechnology finance executive, and their three children.</div>
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<i>On this particular trip our family had the opportunity to sit down with Dr. Sherr as well. He met with nearly every family there on Saturday one at a time. We were his first appointment at 9 am and ten hours later he was still meeting with families. Beyond the MD and the PhD, I have to tell you, he is an incredibly kind and personable man. He clearly cares deeply about each and every one of our girls. We were thrilled to meet with him and ask him some of our specific “Emelyn” questions</i>. </div>
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<b>Thanks to our funding, Dr. Sherr has the following wicked smart individuals working with him on the DDX3X mutation:</b></div>
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<b>Bethany Johnson-Kerner, MD, PhD</b> is an Alpha Omega Alpha honors graduate from the College of Physicians and Surgeons of Columbia University, where she also completed her Ph.D. in neuroscience. She is currently completing her clinical training in pediatrics and neurology at UCSF. For her Ph.D. thesis project at Columbia, she generated induced pluripotent stem cells (IPS cells) from patients who had a disorder of peripheral nerves that control muscle function, called giant axonal neuropathy. She used advanced laboratory techniques to make those stem cells into nerve cells, studying both healthy cells and cells from patients. She also showed that she could restore normal function to patient-derived nerve cells by putting back the normal gene.</div>
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Dr. Johnson-Kerner will be creating stem cell lines to better understand how normal DDX3X functions to maintain cell health, then she will study how specific mutations in DDX3X affect how that cell functions.</div>
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<b>Ruiji Jiang, MD, PhD</b> is a dual doctoral student (physician-scientist) completing his thesis work in Dr. Sherr’s lab. Dr. Jiang will be working with Dr. Li to develop a method to screen for drugs that could repair the function of DDX3X in cultured cells.</div>
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<b>Lindsey Suit</b>, a Berkeley undergraduate, will be completing her honors thesis on the spectrum of clinical challenges faced by girls with mutations in DDX3X.</div>
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<b>Brieana Fregeau</b> is the research coordinator for the Department of Neurology at UCSF and Brain Development Research Program. I don’t have a full bio on Brieana, but I get the feeling she’s the grease that keeps this super smart team running smoothly.</div>
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<b>There is an extra special, and also wicked smart, member of our DDX3X tribe who is vested in each and every one of our girls:</b></div>
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<b><a href="https://clinicforspecialchildren.org/staff/karllaw-brigatti-ms/">Karlla W. Brigatti, MS LCGC</a></b> joined the Clinic for Special Children as its first genetic counselor in 2014, bringing extensive experience in clinical genetics and research from across the lifespan. She earned her Bachelor of Science in Cell and Molecular Biology from the University of Pittsburgh in 1994 magna cum laude and her Master of Science in Human Genetics from Sarah Lawrence College in 1998. Prior to joining the Clinic for Special Children, she was the senior coordinator of the FASTER Trial at Columbia University, the largest NIH-funded trial in Obstetrics and Gynecology to date, and later the founding coordinator for the Center for Prenatal Pediatrics at Columbia University, introducing multidisciplinary and state-of-the-art innovation to the care of highly complex pregnancies before and after delivery. After moving to the Lancaster area in 2006, she served as senior genetic counselor in clinical genetics, pediatric oncology, and neurology at the Children’s Hospital of Philadelphia (CHOP), working with families from across the globe for over five years in the Friedreich Ataxia Center of Excellence at CHOP on various natural history and clinical drug trials for the condition. She has authored over 20 lay and scientific publications, mentored undergraduate, graduate, and medical students, and served on the Human Genetics Faculty at Sarah Lawrence College. She is currently completing a one-year program in Rare Disease Clinical Research Training through the National Institutes of Health. In addition, she currently serves on the Board of the CROWN Foundation, promoting research in women’s and newborn health. Her research interests include gene discovery, implementation of personalized medicine, and rare disease advocacy. She is certified by the American Board of Medical Genetics and is a member of the National Society of Genetic Counselors. Karlla feels this experience has enriched and prepared her for her work at the Clinic for Special Children. She promotes the partnership between clinical care and innovative research to improve the lives of those with genetic conditions. That trust and mutual investment with the community is a key element to the Clinic’s longtime success in advancing Genomic Medicine. (I might add, this also makes Karlla an incredibly valuable member of our DDX3X tribe!)</div>
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<b>In order to be, as Karlla put it, “clinical trial ready” Nicholas Bascou and Deanna Steele from the Program for the Study of Neurodevelopment in Rare Disorders (NDRD) at Children’s Hospital of Pittsburgh of UPMC were also in attendance on behalf of Dr. Escolar:</b></div>
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<b><a href="http://www.chp.edu/find-a-doctor/service-providers/maria-escolar-123540">Maria Escolar, MD, MS</a></b> is a graduate of the Escuela Colombiana de Medicina. She has a Master of Science in Human Nutrition from Columbia University and completed a residency in general pediatrics and fellowship in child development and behavior at Cornell University Medical Center in 1995. Dr. Escolar is board-certified in neurodevelopmental disabilities. She has 15 years of experience as a practicing clinician and researcher. Dr. Escolar has authored multiple original manuscripts, including two New England Journal of Medicine articles. She is nationally and internationally known for her work in neurodevelopment of children with leukodystrophies and mucopolysaccharidosis. Her research focuses on behavioral and neuroimaging outcome measurements.</div>
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NDRD was established in 2002 because of the need of help children and their families understand the overall impact of rare neurological diseases on child development. Our family is considering traveling to Children’s Hospital of Pittsburgh of UPMC to take part in a natural history study, but that’s a whole other blog post, so stay tuned.</div>
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<b>There are other important members of the DDX3X medical team as well, but these are the folks we had the opportunity to hear from in San Diego. </b></div>
Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com2tag:blogger.com,1999:blog-3894106909147217036.post-64751390973307191742017-11-19T21:35:00.000-05:002017-11-19T21:35:24.588-05:00Find your tribe!<div class="_5pbx userContent _3576" data-ft="{"tn":"K"}" id="js_goy" style="background-color: white; color: #1d2129; font-family: Helvetica, Arial, sans-serif; font-size: 14px; line-height: 1.38; margin-top: 6px;">
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<i>After the DDX3X conference last Sunday, as we boarded our red-eye flight back to the east coast, I was overcome with so many emotions. I still haven't fully processed our trip, nor have I finished updating Emelyn's blog about what we learned (it's coming, I promise). But I did what I do when I can't seem to turn my brain off, I started writing. If my words help one family find their tribe, whether it's DDX3X or not, then my night of lost sleep will be well worth it. You can link to the article on <a href="http://i%27ve%20always%20found%20comfort%20in%20the%20stories%20other%20parents%20share%20about%20their%20special%20needs%20journey.%20they%20were%20a%20key%20part%20of%20helping%20our%20family%20not%20only%20accept%2C%20but%20welcome%20our%20not%20so%20%22normal%22%20family.%20as%20i%20wrote%20my%20latest%20blog%20post%2C%20i%20thought%20maybe%20other%20families%20might%20find%20comfort%20in%20my%20words%20as%20well%2C%20so%20i%20submitted%20them%20to%20the%20mighty%2C%20one%20of%20my%20favorite%20special%20needs%20blogs.%20you%20can%20link%20to%20the%20mighty%20and%20check%20it%20out%2C%20or%20read%20it%20below.%20thanks%20in%20advance%20for%20your%20prayers%21/" target="_blank">The Mighty</a>, or read it below. </i></div>
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I sit here, on a plane, traveling back from San Diego where our family has spent the last four days with our tribe. These are people we’re linked to because of a single gene on our daughter’s X-chromosome: the DDX3X gene. Because of a spelling error at conception in just one of their 60,000 genes, our daughters’ share a world of similar challenges and joys.</div>
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg_RzUcHQqiB-_6XFeP59-1ML5OD5Oaa-U9l49jEqUOAq-q41PodzeVTFdEDbIdJyty5uUlMCJcPZTvKNo3Coxksd30m24kpPRa7Ptvzees-i5ypirEkQWTHgrdzzSkjLk0UbngYL8gDLE/s1600/Welcome+DDX3X.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="742" data-original-width="960" height="247" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg_RzUcHQqiB-_6XFeP59-1ML5OD5Oaa-U9l49jEqUOAq-q41PodzeVTFdEDbIdJyty5uUlMCJcPZTvKNo3Coxksd30m24kpPRa7Ptvzees-i5ypirEkQWTHgrdzzSkjLk0UbngYL8gDLE/s320/Welcome+DDX3X.jpg" width="320" /></a></div>
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Our family’s membership in the tribe started on September 16, 2015, with a phone call from our geneticist. I still remember the pause before words flowed from his mouth. In that moment, I wondered how this new piece of information would change our daughter’s life and our family. “We’ve found the answer to your daughter’s delays,” he said, “it’s a mutation of her DDX3X gene.” He provided us with a very recently published peer-reviewed journal article and walked us through what he had spent the last several hours learning about the rare condition.</div>
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Hours later, my husband and I turned to social media to find someone…anyone who had a daughter with this same diagnosis. We found not one, but a community of about 30 families with a daughter or daughters with a DDX3X mutation. There, in a private Facebook group, I posted our daughter’s picture and received a warm and loving welcome from moms, dads and grandparents from the United States and the Netherlands. But more precious than any words, were seeing their precious and beautiful daughters’ faces. As we scrolled through these beautiful children’s photos, I had such hope. These children were so much like our daughter…and they were happy and thriving.</div>
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Our pediatrician wasn’t overly optimistic about genetic testing. “It’s expensive. It’s often inconclusive. It leads to more questions than answers.” And my favorite, “It’s not like it’s going to change your treatment plan.” It’s not that our pediatrician wasn’t supportive, he just didn’t understand the importance of belonging to a tribe. But something, deep in my momma-gut said, “We have to keep going. Stopping now is not an option.” And, without a fight, our pediatrician sent us off to genetics, where we spent the next nine months searching. Our last chance for answers was whole exome sequencing (WES) — the Cadillac of genetic testing. I’ve talked with other parents of kids with disabilities who have an undiagnosed child. They have so many questions — questions doctors can’t answer, questions Google can’t answer, questions only someone else in their same shoes can answer. But they haven’t found those people yet — they haven’t found their tribe.</div>
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjFkhGjGHX0wPkku2DulO87jPxClXg1iRrx2TPaowm7vomAPXU4xsBNq9_M8ssp3GSzCtP_4GeVXphL9BtpDvoOKoFCznMqPDQQwQaP1XZlYoMQx96sIQpRmdXyFW4hrkA87ThieDHRejI/s1600/DDX3X_wristbands.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="960" data-original-width="960" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjFkhGjGHX0wPkku2DulO87jPxClXg1iRrx2TPaowm7vomAPXU4xsBNq9_M8ssp3GSzCtP_4GeVXphL9BtpDvoOKoFCznMqPDQQwQaP1XZlYoMQx96sIQpRmdXyFW4hrkA87ThieDHRejI/s320/DDX3X_wristbands.jpg" width="320" /></a></div>
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We live in Virginia, where there are only two known cases of DDX3X. A state of 8.4 million people, yet only two known cases. The city of San Diego alone has three known cases. Are other pediatricians steering parents away from connecting with their tribe? Maybe they don’t understand what’s at stake. Maybe you, as a parent, reading this, don’t understand what’s at stake.</div>
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Let me share how receiving our diagnosis has changed our family:</div>
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<b>1. The self-doubt halted.</b></div>
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I immediately stopped fine combing my pregnancy with my daughter wondering what I could have done differently. I now know nothing I could have done differently would have changed our daughter’s condition. Her de novo gene mutation was beyond any human control. I know each momma in our DDX3X tribe feels this same relief.</div>
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<b>2. Our treatment plan has changed.</b></div>
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Last year, after attending our family’s first DDX3X family day, we learned several of the girls also had an autism spectrum disorder diagnosis and received applied behavior analysis (ABA) therapy. We learned this form of therapy broke down barriers for their girls to gain social, communication and daily living skills. Now, a year later, our daughter is experiencing those same benefits of ABA therapy. Without our tribe, we would have never explored this form of therapy — and chances are, she’d still be without the critical social, communication, and daily living skills she now processes.</div>
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<b>3. You become the expert.</b></div>
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We now go to our doctors with the upper hand. We learn so much from our tribe that we educate our doctors, therapists and school personnel about what tests, diagnosis, and treatments our daughter needs. And to be honest, every doctor we’ve seen has welcomed our newfound expertise. Our pediatrician says, “So what have you learned since we last talked?” They look to us for answers because our tribe is their best means of education and treatment.</div>
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<b>4. Our tribe has mobilized.</b></div>
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We have raised a small but impressive sum of money to begin funding research. And we have a real shot at getting to a drug trial that could improve the richness of our girls’ lives in just a few short years. If we weren’t part of the tribe, we could be missing out on real solutions for our daughter. And every individual counts when it comes to research and trials because critical mass is needed to have statistically valid data and interest from pharma companies. According to ClinVar, there are approximately 160 individuals now diagnosed with a DDX3X mutation in the world. DDX3X is likely a heavy hitter in the intellectually disabled population, accounting for up to one percent of undiagnosed females.</div>
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Chances are, you belong to a tribe, too. Maybe it’s the DDX3X tribe, or maybe it’s another tribe, but there is a tribe out there for you. You need it just as much as it needs you. You just need your membership card. Fight for your tribe, because it will change your life for the better. It doesn’t matter if your child is 4 months old or 45 years old, the fight for answers is worth the battle.</div>
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Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com2tag:blogger.com,1999:blog-3894106909147217036.post-79160096048648700902017-11-09T22:48:00.000-05:002017-11-09T22:48:32.065-05:00ABA…it may not be what you think it isIf you’ve ever broached the subject of applied behavior analysis, better known as ABA, with me, you know I’m pretty passionate about the form of therapy. I joke that I sell it as if I’m going to make a commission off of it--that’s because I believe so strongly in it. There are folks who feel completely opposite from me about ABA. Others simply don’t understand it and therefore have misconceptions about what ABA is and isn’t. About 18 months ago, I was fairly clueless about ABA myself. With that in mind, I thought I’d devote a blog post to ABA and put my sales pitch in writing. I’ll also share how ABA has tremendously improved Emelyn’s communication and independence skills over the past year, something that no other form of therapy or educational setting has been able to do.<br />
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I’ve heard the following statements more times than I can count, “But isn’t ABA for kids with bad behaviors?” or “My child doesn’t really have bad behaviors.” or “Isn’t ABA just for kids with autism?” If you’ve said one of these things, don’t feel bad, you’re not alone in your thinking. I’m sure I, too, had some of these same thoughts. ABA does sometimes get a bad rap, likely because not everyone does ABA properly. I also think the name, with the use of the word “behavior” is part of the issue. Most people see the word behavior as something that’s bad. If you’re one of those people, substitute the word “action” or “activity” anytime I say behavior. A behavior can absolutely be something positive or beneficial, such as using the potty, feeding yourself, or signing or verbally requesting a want or need. When you think about behaviors in that way, they seem much less negative. Therefore, if your child doesn’t have “bad” behaviors to decrease (though I find that hard to believe because we all have behaviors we should probably examine) then ABA will simply allow you to increase positive or beneficial behaviors.<br />
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<tr><td class="tr-caption" style="text-align: center;">Emelyn sporting her Halloween shirt <br />from her ABA clinic.</td></tr>
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One of the first things our ABA team taught us was that all behaviors are caused by one of four reasons:<br />
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<li>To gain attention.</li>
<li>To access a desired object/activity.</li>
<li>To avoid an undesired object/activity.</li>
<li>To fulfill a sensory need. </li>
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I’ll go in reverse order to address these reasons for behaviors and give a quick Emelyn example:<br />
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#4, to fulfill a sensory need, that’s something like chewing on a finger for oral sensory input or flapping arms when excited. These are behaviors that fulfill a specific need for the individual displaying the behaviors and for that reason, they need to be addressed carefully with a Board Certified Behavior Analysis (BCBA). Emelyn, like many girls with DDX3X, is a finger chewer. By redirecting her finger chewing with a chewy tube or providing something to occupy her hands, we are working to decrease the behavior.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjzUxxJJriKQmyQncf_tEzJhwm5YM_RbHRvdF2KdRqNMdxycbDnT8bysO1wuAyysMX6PdC_EIpe69A8ER28u9the8SlX0rGL6k_coGz8vppy_yt7oN4ZdOgEb1sg7rM13yv4tn1r56q3Fw/s1600/IMG_3261.JPG" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1200" data-original-width="1600" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjzUxxJJriKQmyQncf_tEzJhwm5YM_RbHRvdF2KdRqNMdxycbDnT8bysO1wuAyysMX6PdC_EIpe69A8ER28u9the8SlX0rGL6k_coGz8vppy_yt7oN4ZdOgEb1sg7rM13yv4tn1r56q3Fw/s320/IMG_3261.JPG" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Emelyn and Hattie getting a little sensory input with cooking spoons.</td></tr>
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#3, to avoid an undesired object/activity, is sometimes referred to as escape behavior. Emelyn, for example, used to kick, cry, and thrash when it was time for us to brush her teeth. By not allowing her to get out of the activity, we quickly established that we were going to brush her teeth whether she liked it or not. We started with just a few seconds and built up from there. We can now brush her teeth for 40 seconds with very little issue, but probably more impressive is that she’s quite cooperative at the dentist. Sometimes Emelyn’s escape behaviors are far less obvious. For example, she sometimes uses her cuteness to get out of work. It’s tricky to spot if you’re not a trained ABA professional (we frequently missed these), but her ABA team sees right through her cute work avoidance behaviors.<br />
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#2, to access a desired object/activity, is one of those behaviors that is easy to show the difference between a “bad behavior” and a “good behavior.” Let’s go with “bad” first. When Emelyn is in her chair awaiting her oatmeal in the morning, she’s been known to throw a pretty ridiculous fit. By crying, banging her tray, etc. she’s trying to gain access to the food without being patient. We ignore the behavior, as if it’s not happening, and get her food to her as soon as she calms down. On the flip side, when she waits patiently for her food we acknowledge her patience with, “Good job waiting patiently for your food Emelyn.” Basically, we don’t give attention to the undesired behavior and we do give attention to the desired behavior. Going a step further, if she was using her sign language to sign “eat” then we would acknowledge her with, “Emelyn, I see that you’re hungry. Thank you for waiting patiently. We’re getting your oatmeal ready as quickly as we can.” While I’m not sure she fully understands all of that, she does understand positive language/attention and that’s the important part because that’s how we increase desired and beneficial behaviors. Because of the recent success with sign language, we’ve been working to increase her use of signing. We’ve started with highly motivating signs, such as “read.” She quickly caught on that signing “read” was how she could get a book read to her. It’s cause and effect, the positive behavior gets her the desired object/activity.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEipHMfGCtDvvv-i6C9E5rujrvD9LR1Ur2n2vFZEy2yPtYPLNHykzbEHu-aWb4RzybGhrrf-no4Y2sQPKm2I-J20aSChbYa4hDyUX_MIz2aXbFC5yTgm-AuML0skuhEHGmk3TRuC5URdx10/s1600/IMG_3354.JPG" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1200" data-original-width="1600" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEipHMfGCtDvvv-i6C9E5rujrvD9LR1Ur2n2vFZEy2yPtYPLNHykzbEHu-aWb4RzybGhrrf-no4Y2sQPKm2I-J20aSChbYa4hDyUX_MIz2aXbFC5yTgm-AuML0skuhEHGmk3TRuC5URdx10/s320/IMG_3354.JPG" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Emelyn and Hattie can often be found pulling <br />books out of Emelyn's book bin.</td></tr>
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#1, to gain attention, is probably the biggest as you’ve seen it woven into some of the above examples. It kind of intertwines. Every kid wants attention and I fully believe all children deserve attention. The key is to be sure you’re giving attention to desired/beneficial behaviors in an effort to increase those behaviors and not giving attention to an undesirable/negative behavior in an effort to decrease those behaviors. Most of us know the rule about tantrums, ignore them and they go away, give them attention and you’ll send the message that they work at generating attention. It’s the old adage, “what you permit you promote.” There are other negative behaviors that are a bit more subtle and those are the ones that BCBA’s really do a nice job helping you decrease.<br />
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Let’s talk about attention as it relates to desired behaviors. About six months ago Emelyn’s ABA clinic informed us they wanted to start potty training Emelyn. Patrick and were both 100% skeptical. They implemented a reward system for successful voids and we followed suit. First, we decided to try M&M’s. As it turns out, Emelyn seemed confused by the M&M. What got her excited was the enthusiastic, “good job, Emelyn!” that she got after she had a successful void. We’ve now implemented a special potty song in addition to the positive praise. Attention is a powerful motivator, at least for Emelyn. When she does something like use the potty, feed herself, follow instructions, i.e. desired behaviors that are tied to her future independence, she’s really proud of herself and we want to encourage her excitement by showing our excitement.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjUj6bjlBQrZs8D3qehPELItf1isM4rzpyeAnlUCW1Rv0D2iL299o-h-NJoY7r0PtwJ509D0mvn5_vbSzScn2mUDCDRbVsUKp5JQIy4eF_euUMaZL6bnWEemrfVWknsLMxZUKBf4nosvSM/s1600/IMG_3199.JPG" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="960" data-original-width="720" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjUj6bjlBQrZs8D3qehPELItf1isM4rzpyeAnlUCW1Rv0D2iL299o-h-NJoY7r0PtwJ509D0mvn5_vbSzScn2mUDCDRbVsUKp5JQIy4eF_euUMaZL6bnWEemrfVWknsLMxZUKBf4nosvSM/s320/IMG_3199.JPG" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">We teach extended family ABA principles to <br />help them better understand how to react <br />(or not react) to Emelyn's behaviors.</td></tr>
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Another misconception about ABA is its delivery method. I’ve heard of ABA being implemented in public school settings, but I’m not very knowledgeable about that, so I’m going to touch on the two I am knowledgeable about:<br />
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<ul>
<li>Clinic-based: This is how Emelyn receives ABA. She goes five days a week for six hours a day. The word clinic may sound harsh, but visit a clinic-based ABA program and you’ll likely find a facility that looks far more like a pre-school than a clinic—there are toys, learning centers, music circles, and peer engagement areas. In order for children to receive clinic-based ABA, an autism spectrum disorder is required by insurance. </li>
<li>Home-based: Emelyn also receives home-based ABA twice a month. This is to be sure we’re implementing the clinic-based plan in our home, and more importantly, that we’re collaborating on the best ways to increase communication and skills of daily living. In Virginia, in-home ABA is covered without an autism diagnosis for children on Medicaid with a developmentally delayed diagnosis. Many families, especially those with older children in the school system during the day, find home-based to be the best option for their family.</li>
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgT344k6dL3VMw50LBHdJPKZ-vOkFFaHdMC97E3Q-aHFpytXypAUMeenV-I1dUp3rWLb9ASajN63IpsGg8iJ39Mot4lCxJJYVhFjxObDOPbvVUsPRMVG27Sr9klFV9FQNMKWNjHbsyJpKQ/s1600/IMG_3351.JPG" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1600" data-original-width="1200" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgT344k6dL3VMw50LBHdJPKZ-vOkFFaHdMC97E3Q-aHFpytXypAUMeenV-I1dUp3rWLb9ASajN63IpsGg8iJ39Mot4lCxJJYVhFjxObDOPbvVUsPRMVG27Sr9klFV9FQNMKWNjHbsyJpKQ/s320/IMG_3351.JPG" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">How do I know ABA isn't just for kids <br />with autism? Because we apply these same <br />principles to our typically developing <br />kiddos.</td></tr>
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To me, ABA is about finding the right motivators to increase desired behaviors that will help Emelyn develop the skills she’ll need to live as independently as possible. A trained ABA professional would probably say, “Jamie, there’s more to it than that. You’ve left out the whole piece where we measure and chart all of this progress.” (Which is totally true! And I’m sure there is even more I’ve left out.) But, for me as a parent, I know my daughter understands cause and effect and ABA taps into that. Knowing that ABA is more involved than what I’ve explained here, I hope I’ve given you enough information to at least get you thinking about its possibilities. As with all things, do your research and be sure you’re picking an ABA program that’s reputable and working towards the right goals. Visit multiple providers and ask lots of questions. When we picked Emelyn’s clinic we picked it because my momma-gut said it was the right place for her. I’m glad I listened because Emelyn has made tremendous progress and that’s critical at her young age. Her ABA team cares deeply about her future and they are constantly working toward the goals we established together.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhJE6tvydxOmnwfmcJ-WE6SeoqfOaM_2d_kbb3ZJw2-9iJVUfH3EBQhjB0YdG0Gb_GA_YvlalOyt4Is_xIVoSIv8AvuhC9vMcwb3LBFruSO80UqZ3FdqMeEYL53kCRAzDnJ3wAKiUTw71A/s1600/IMG_3594.JPG" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1600" data-original-width="1200" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhJE6tvydxOmnwfmcJ-WE6SeoqfOaM_2d_kbb3ZJw2-9iJVUfH3EBQhjB0YdG0Gb_GA_YvlalOyt4Is_xIVoSIv8AvuhC9vMcwb3LBFruSO80UqZ3FdqMeEYL53kCRAzDnJ3wAKiUTw71A/s320/IMG_3594.JPG" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">People are a great motivator for Emelyn and<br />that includes her baby sister, Hattie.</td></tr>
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I have to give credit to Lauren Abel from Next Steps Academy in Houston, TX. Last April, when we went to Chicago for our very first DDX3X family day, she came and sat down with Patrick, Emelyn, and me. She told us that she was compelled to come talk to us and I’m so glad she did. She saw Emelyn’s potential at a time when we were struggling with Emelyn’s current educational setting. They were seeing her deficits, but Lauren saw her potential. She inspired us to find a team of people who see nothing but potential in our little Emmy.Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com1tag:blogger.com,1999:blog-3894106909147217036.post-15774248855195799962017-07-13T07:30:00.000-04:002017-07-13T07:30:04.393-04:00It takes a villageOne year ago today Emelyn started attending ABC’s of ABA. Over the course of this past year, we’ve seen tremendous growth and development. Here are the notable areas we’ve seen:<br />
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Self-feeding: Emelyn can feed herself with her fingers, as well as using utensils. It’s not always pretty, but she certainly is proud of herself.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEinlcdu0Z1mNJR_wtHgM_DS_S67snOg3jmsLvb78V6j9wIILjq3IdvPVAkTEQolFcJtQlD0rn0N4J41C0kAv3CaqyE-SyphmwSLQLHIfjZM-6VouRawzy2D7WbLGxmbxcgO8zM6pne7xmM/s1600/IMG_2507.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1600" data-original-width="1200" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEinlcdu0Z1mNJR_wtHgM_DS_S67snOg3jmsLvb78V6j9wIILjq3IdvPVAkTEQolFcJtQlD0rn0N4J41C0kAv3CaqyE-SyphmwSLQLHIfjZM-6VouRawzy2D7WbLGxmbxcgO8zM6pne7xmM/s320/IMG_2507.JPG" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">"You want me to use my fingers. I don't think so, <br />I'm way too sophisticated for that."</td></tr>
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Communication: Emelyn still doesn’t have words, but she’s on her way to using an iPad to communicate her needs. She’s also using sign language to say “all done” and “more.” Words may be in her future as her speech therapist is encouraged by the “m” sounds she’s been making.<br />
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Walking: Emelyn still requires support, either with a walker, gait trainer, or hand-holding, to walk, but we can honestly say she’s closer than ever to walking independently. When Emelyn started at ABC’s we were lucky to get more than a few steps out of her without her plopping down in protest. ABC’s walks her every single day and collaborates with her physical therapist to be sure they’re using the right techniques to promote independence. Just this week Emelyn has started trying to take steps on her own. We’ve only seen two or so steps at a time, but the fact that she’s wanting to do it is extremely encouraging because what Emelyn wants, Emelyn does.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhK1oQtLcryW2fsAIq18iUCXtrr6qDX_-y1t5jgf-wEQKZq6Rk6f4_5bzRvcHvaTejE2p61cxCoKT4hR2EiL7jUxhMuSQ-PXh8EeMO5fB4Z4yjJoEfyelwKrJKvUWKI2BmNeMJgSTOKUEk/s1600/IMG_2575.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1600" data-original-width="1200" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhK1oQtLcryW2fsAIq18iUCXtrr6qDX_-y1t5jgf-wEQKZq6Rk6f4_5bzRvcHvaTejE2p61cxCoKT4hR2EiL7jUxhMuSQ-PXh8EeMO5fB4Z4yjJoEfyelwKrJKvUWKI2BmNeMJgSTOKUEk/s320/IMG_2575.JPG" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Watch out, this girl is on a mission.</td></tr>
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Fine motor: Emelyn just recently started clapping her hands. She’s also getting the hang of pointing using her index finger. While still inconsistent, she can wave when she wants to as well.<br />
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Receptive language: Emelyn’s vocabulary of words she understands has grown tremendously. She’s even following some two-step instructions. She points to our nose, mouth, eyes, ears, and chin. I’m convinced she understands even more than we realize.<br />
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Engagement/eye contact: We constantly hear from folks, “I can’t get over how much progress Emelyn is making.” Usually what folks are referring to isn’t her improved mobility or receptive language, it’s her ability to interact with the world. Truly, she’s a completely different child this July versus last July. I remember going to a restaurant with friends last summer and Emelyn stared off into the ceiling mesmerized by the ceiling fans. Despite attempts to get her attention, she remained locked in her own world just staring. This was a frequent occurrence, but not anymore. When we attend church, Emelyn engages with those around us. She holds hands, smiles and giggles, makes eye contact, and responds to her name. Now if we could just get her to refrain from giggling through the prayers.<br />
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Head control: A year ago it was not uncommon to see Emelyn’s head fall back several times a minute. This is a major challenge to getting her walking. However, her head control has increased drastically this past year, likely due to her increased walking at ABC’s. As her head control improves, so too does her ability to keep her balance. She still has progress to make before her balance will be at a place where walking is possible, but she’s closer than ever.<br />
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Finger chewing: Emelyn, like many of the other DDX3X gals, is a finger chewer. It’s mainly a sensory issue. When Emelyn started at ABC’s we were using a “no-no” which is a brace that prevents her from bending her arm at the elbow. This was an effective way of keeping her finger out of her mouth, but it wasn’t ideal for developing motor skills, especially fine motor skills. We’ve started noticing over the past six months a significant decrease in her finger chewing. In fact, it’s been months since she’s worn her no-no. We do occasionally see an increase in finger chewing, but she’s now easily redirected to other tasks as opposed to mindlessly chewing her finger.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjzavCTygDkfg8I0-o11XV8qd7VMeWJ2xP3Iyqt4MoCUob4pUGOH47JRljkX2ncebxHnP2j2mJbkhDheeF-yX-jEDCRpDYgqRMyyw6CzdT-J4FPBNYSadvTv_MLLeqPS50QkmlSZzaSwko/s1600/IMG_2657.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1600" data-original-width="1200" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjzavCTygDkfg8I0-o11XV8qd7VMeWJ2xP3Iyqt4MoCUob4pUGOH47JRljkX2ncebxHnP2j2mJbkhDheeF-yX-jEDCRpDYgqRMyyw6CzdT-J4FPBNYSadvTv_MLLeqPS50QkmlSZzaSwko/s320/IMG_2657.JPG" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">One redirect we've found for finger chewing<br />is to hand Emelyn a car with wheels she can spin.</td></tr>
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Sensory issues: In addition to the decline in finger chewing, we’ve also seen an increase in Emelyn’s tolerance for having her teeth brushed. What used to be a battle is now a fairly effortless task. This was especially helpful when Emelyn went to the dentist for the first time back in January and again yesterday. She was extremely cooperative. Emelyn’s also a teeth grinder and that’s another area we’ve seen decrease tremendously. It’s almost rare for her to grind her teeth now.<br />
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Potty training: A year ago I would have never dreamed Emelyn would be in the potty training process, but sure enough, she’s successfully using the potty several times a day. We still have a long road ahead of us, but we’re on the road and that’s pretty exciting.<br />
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A proper dismount: Just a few months ago when Emelyn wanted to get off the bed or couch, she just went for it, often head first. There was no consideration for how she went about dismounting, she just went. We’re now seeing her very intentionally turn herself around to go feet first off of furniture and her bed. While it’s a physical skill to execute, it’s a cognitive skill to plan and we think the combination is a pretty big deal.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjb2EsbWtzh6ht4mXGjq2kGFCknWRIpiAZ52YERKKRCN6MEYBlPJQmEbWZcJm-yQtl-6NhyphenhyphenSCDNw5W-OOPACetM6Fd232me4QeWD_0gNycJd2oOkSpE7IA-F3FnfeFVki1PyuVaA3lLzsw/s1600/IMG_2795.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1600" data-original-width="1200" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjb2EsbWtzh6ht4mXGjq2kGFCknWRIpiAZ52YERKKRCN6MEYBlPJQmEbWZcJm-yQtl-6NhyphenhyphenSCDNw5W-OOPACetM6Fd232me4QeWD_0gNycJd2oOkSpE7IA-F3FnfeFVki1PyuVaA3lLzsw/s320/IMG_2795.JPG" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">This is Emelyn's morning sleepyhead look.</td></tr>
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Attention span and tantrums: With Emelyn’s new awareness of the world around her we’ve also noticed her attention span has increased. This has helped with tantrums and other escape behaviors. It’s not to say we don’t still have some outbursts, but to some extent, those are to be expected with a non-verbal child. In general, she’s just a happier kid.<br />
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Being a sister: This one is probably the greatest of all. Before starting at ABC’s Emelyn paid very little attention to Aubrey. Every so often she might acknowledge Aubrey, but it was inconsistent at best. It was especially hard to watch Aubrey try to engage Emelyn and get little to no reaction. That has completely changed. Emelyn watches Aubrey, laughs at Aubrey, and even plays with Aubrey. With the addition of Hattie, we’ve seen Emelyn quickly form a bond with her new baby sister too. I know this new connection will likely bring on sibling rivalry in the future, but that’s a welcome result of sibling engagement.<br />
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It’s been an eye-opening experience reflecting on this past year. We are beyond grateful to ABC’s for believing in our little Emmy. They know she’s far more capable than any assessment or test shows. They see her potential even when we can’t. We’re eagerly anticipating what Emelyn will accomplish in her next year with the loving and caring folks at ABC’s. We’re also so very grateful to the care providers, therapists, grandparents, and others who work with Emelyn on all these new and emerging skills. It’s super cliché, but it seriously takes a village.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjSZlXbkPrSkpPhvCXfOxJ3UF_bc70kdpF1FJU5JRISphHnS9pv1HQUpcziKS36T542j8TwWfWKDRatiIvM8pFMhGosHXYlDiX8UFkB9xrOQIgPpCHqyUQOhi6E5d1VpJZkTXMBe0Tk0Xo/s1600/FullSizeRender+%25282%2529.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1233" data-original-width="1600" height="246" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjSZlXbkPrSkpPhvCXfOxJ3UF_bc70kdpF1FJU5JRISphHnS9pv1HQUpcziKS36T542j8TwWfWKDRatiIvM8pFMhGosHXYlDiX8UFkB9xrOQIgPpCHqyUQOhi6E5d1VpJZkTXMBe0Tk0Xo/s320/FullSizeRender+%25282%2529.jpg" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">One happy middle child.</td></tr>
</tbody></table>
<br />Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com1tag:blogger.com,1999:blog-3894106909147217036.post-9095289959640117832017-03-01T08:33:00.000-05:002017-03-01T08:33:02.722-05:00Dear Rare & Beautiful Emelyn<div style="background-color: white; color: #666666; font-family: Helvetica, Arial, sans-serif; font-size: 12px; margin-bottom: 1em; margin-top: 1em;">
Today, on Rare Disease Day, we celebrate you. With your contagious giggles and larger than life smiles, you bring joy to every person you meet. You do not know your own challenges…you only know your own determination. It’s a determination that motivates us to see blessings where others see mistakes. Science may call it a spelling error, but we know better. We know God doesn’t make mistakes. He knew what he was doing when he spelled your DDX3X gene just a little different. Whether you know it or not, you are on a path to teach our family the true meaning of patience, faith, and hope. You are beautiful and perfect in every way. We are so very blessed to have you as part of our family.</div>
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To learn more about DDX3X, meet other little girls with an extra special DDX3X gene, or to donate to research to find treatments for Emelyn and other children with DDX3X, visit <a href="http://ddx3x.org/" original_target="http://ddx3x.org/" rel="nofollow noopener" saprocessedanchor="true" style="color: #365899; cursor: pointer; font-family: inherit; text-decoration: none;" target="_blank">DDX3X.org.</a></div>
Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com15tag:blogger.com,1999:blog-3894106909147217036.post-14770516849164152692016-12-05T21:41:00.000-05:002016-12-05T21:41:44.521-05:00Reflecting on 2016Everyone I talk to tells me the same thing, “2016 has been such a busy year.” Our family is right there with you. And for that reason you’ll have to excuse my lack of posts this year. While it’s been hard to take the time to create posts, we have found time to be very grateful for our family, especially our sweet Emelyn. Here are just a few things we’ll be giving thanks for as we reflect on Emelyn in 2016:<br />
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<b>School:</b> Emelyn continues to make tremendous progress at her new school where she has been since July. I can’t tell you how grateful we are to have found this school. The goals they are working towards each day are truly meaningful to Emelyn’s development and independence. For example, Emelyn is more willing than ever to walk with support, likely because her goals at school include walking in her gait trainer three times a day for seven minutes each time. Once she becomes more stable, which will come with practice, she’ll be walking more independently in the near future. We’ve also seen Emelyn’s ability to feed herself, follow instructions, and make meaningful contact with the world around her improve as a result of the goals they are working towards at her school.<br />
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<b>Care team:</b> I joke regularly that Emelyn has an entourage. She has therapists, teachers, care providers, doctors, case workers, and more. Each one of them love and adore her and are constantly plotting with us to be sure we’re doing the best to help her progress towards independence. When Emelyn switched schools her old care provider, Jean, had to find a new position that offered full-time hours. While we were sad to see her go, we were grateful we’ve been able to keep a close relationship with Jean. They now see each other weekly and get to hang out on the weekends about twice a month. It took us a long time to find Jean, but to our surprise finding her replacement was oddly simple. Patience began with us in August and had worked with Emelyn in the infant room at the daycare she went to before it became clear daycare wasn’t a good fit for Emelyn. They’ve picked up right where they left off and buzz around town from school to PT, OT, speech, hippotheraphy, and swim therapy. We’re grateful to have such incredible people as part of “Team Emmy.”<br />
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<b>Health: </b>For some children with DDX3X there are sometimes significant health issues that come along with the diagnosis, including seizures, heart problems, eye issues, and more. We’re very grateful that these continue on our radar to look out for, but not a reality for Emelyn. This fall Emelyn had an inpatient EEG (known as an SMU) at UVA. She was a champ as you can see. She looked more like she was at the spa than having 20+ leads glued and then unglued from her head over the course of 24 hours. The test told us that while Emelyn’s brain waves are not typical, there are no signs of seizures. She also had an eye exam that raised no red flags.<br />
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<b>Community:</b> Just this weekend I had the opportunity to attend my work Christmas party for our foster parents, adoptive parents, and sponsored residential providers. I brought both girls with me and within minutes of walking in the door was approached by a woman who promptly greeted Emelyn by name. I had never met this woman in my life, but she knew Emelyn. Turns out one of her foster children attended hippotherapy at Healing Strides and she saw Emelyn each week. She asked if it was okay that she had added Emelyn to her church’s prayer list. I, of course, was more than grateful to her and her church for their prayers. And then it happened again, another woman, this time an adoptive parent, approached us. She said when her family walked in her son immediately said, “Look mom, it’s Emelyn!” They attend physical therapy together. In just two hours, with these two families, I was reminded that there is a community of people out there who love Emelyn and pray for her—people who we don’t even know. There are probably a few of you reading this blog right now who we do not know, but know we’re grateful that you are a part of Emelyn’s community.<br />
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<b>Church:</b> 2016 has brought a change for us on Sunday mornings. We were sporadic at best when it came to our church attendance, but this year we’ve made church a priority as a family. Just last week Emelyn was doing her normal chatting and giggling during the service, so Patrick got up with her to step outside. One of the church members, an usher that specific Sunday, told him, “Don’t you ever think she’s a bother to anyone. Everyone in this church loves that little girl.” And I truly believe that. There are countless couples and families at our church who cheer Emelyn on as she walks into church, but my favorite are the children who get the biggest thrill out of getting her to smile and giggle. <br />
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<b>Friends:</b> This blog isn’t the only thing that’s been neglected this year. Between work, the girls, working on my masters, the pregnancy, building a house, and moving twice in one year, I haven’t been the best at keeping in touch. That being said, every time I do get a chance to catch up with friends the first topic of conversation is typically Emelyn. Both Patrick and I are grateful to our friends for asking about Emelyn and not growing bored of our constant talk of Emelyn and her progress.<br />
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<b>Family:</b> It truly takes a village to raise a child…with or without special needs. If it were not for our family we’d all be a bit frazzled in the Snead household. Our parents chip in to get our girls to and from school each day, watch them on weekends when we need to do school work or work on the house, and feed us when one of us is playing single parent on occasion. Our extended family is only a call away and ready to chip in too when our parents aren’t available. <br />
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<b>Diagnosis:</b> Receiving the DDX3X diagnosis for Emelyn last year connected us with so many other families who understand what it’s like to walk in our shoes. Twice this year we’ve had the opportunity to connect in person with some of these wonderful families. We traveled to Chicago back in April, then to Pennsylvania in October. We also did some fundraising this summer and raised $1,700 for the DDX3X Foundation to support research. If you were one of the folks who donated please know how grateful we are for your contribution.<br />
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<b>Siblings: </b>Yes, you read that correctly, that’s plural. Aubrey and Emelyn will welcome a new little brother or sister next month. Aubrey’s an amazing sister to Emelyn and we figured, why not add another super sibling to “Team Emmy.” Life in 2017 may get a little busier, but we’re grateful to fill our home with even more love.<br />
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As our family looks back at 2016 we’re grateful to have you as a part of our journey and as part of “Team Emmy.” Merry Christmas and Happy New Year!<br />
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Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-80172763347120983042016-09-11T17:51:00.000-04:002016-09-13T10:38:40.220-04:00New diagnosis, new therapy, new opportunities…<div class="MsoNormal">
We’ve had our fair share of diagnosis days with Emelyn. Some
were scary, some were puzzling, and some were welcomed with open arms. In June
we headed to UVa with Emelyn to see her developmental pediatrician, Dr.
Norwood. Our major goal at that appointment was to officially have Emelyn
diagnosed with autism spectrum disorder (ASD). Why? Is an additional label
really necessary? We felt it was and so did Dr. Norwood.<o:p></o:p></div>
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Prior to our appointment we spent time documenting Emelyn’s
communication, behavior, and socialization skills/deficits to help make a case
for the diagnosis. These are the criteria, as outlined in the DSM-V, medical
professionals use to diagnose ASD. After having several people say, “Autism –
Emelyn doesn’t have autism,” I thought we might be in for a battle. With four
pages of notes, we were ready. Turns out Dr. Norwood had been thinking of an
autism diagnosis for Emelyn since he first met her, but wanted us to first uncover
the genetic components of her delays. <o:p></o:p></div>
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While Dr. Norwood had been thinking an ASD was in Emelyn’s
future, it really hadn’t entered our mind until we visited Chicago in April. It
was only after meeting several thriving girls with DDX3X that we realized why
they were making the strides they were, especially in the area of communication
– they had intensive applied behavior analysis (ABA) therapy (they too, often,
but not always, had an ASD diagnosis). In looking at the original study (and
only study at this point) published about the DDX3X mutation, 53% of girls have
documented “behavior problems” such as ASD. As I learned more about ABA therapy
it started to make sense why it was helping these girls and why it would have
the potential to help Emelyn as well.<o:p></o:p></div>
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Upon receiving Emelyn’s ASD diagnosis, we immediately began
the process of enrolling her at ABCs of ABA which is an ABA-based clinic. In
addition to having to have the ASD diagnosis to do this, it also meant we had
to withdraw Emelyn from Salem’s special education preschool program. At ABCs
Emelyn receives treatment five days a week for just over four hours each day.
While it’s called a clinic by insurance and medical standards, it looks and
feels like a preschool setting. Emelyn has a team of ABA therapist/technicians
who work with her day after day to overcome barriers to communicating,
socializing, and learning. For each child at ABCs, just like for every child
with ASD, the barriers are different. Emelyn’s plan of care is specific to her
and feeds off of her other therapy goals.<o:p></o:p></div>
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Emelyn’s ABA therapy is built around positive reinforcement,
which sometimes is just a hug or encouraging “yeah, Emmy – you did it!” and
sometimes it’s a chance to splash in water after walking ten steps in her gait
trainer. What I can tell you is we’ve seen remarkable changes in Emelyn in the eight
weeks since she started there. She’s using her hands more, she’s become much
more in tune to her surroundings and other people, and she’s starting to use
her iPad to make choices between two different options. These are things we’ve
been working on for more than a year now with little success, but in eight
weeks at ABCs she’s made huge strides.<o:p></o:p></div>
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<iframe width="320" height="266" class="YOUTUBE-iframe-video" data-thumbnail-src="https://i.ytimg.com/vi/BPBXIeH_eEg/0.jpg" src="https://www.youtube.com/embed/BPBXIeH_eEg?feature=player_embedded" frameborder="0" allowfullscreen=""></iframe></div>
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It’s not uncommon to pick Emelyn (or Emmy as she’s affectionately called at ABCs) up from school and hear, “She’s mad at us today. We really worked her hard.”
Yet the next morning her smiles and giggles tell us she’s ready to go back for
another day of hard work and cheers from her peers and therapists. Just saying
the word school lights up her eyes. </div>
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<o:p></o:p></div>
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<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhiy4cpLxkF1jHQvNtso919nY0PoXnCF-zE-vJpI9emUy3J2rOLri0d15F4CV8AoRO1GKx5unqc9cJLWj7t71ryXm4exqWfI723pJ0RJZaAv7CT-GRHWtJhNdRqAYuz7XSXvdUhZlBBFy0/s1600/IMG_1797.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhiy4cpLxkF1jHQvNtso919nY0PoXnCF-zE-vJpI9emUy3J2rOLri0d15F4CV8AoRO1GKx5unqc9cJLWj7t71ryXm4exqWfI723pJ0RJZaAv7CT-GRHWtJhNdRqAYuz7XSXvdUhZlBBFy0/s320/IMG_1797.JPG" width="240"></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;"><span style="font-size: small; text-align: start;">It's easy to see why one of the moms at <br>ABCs </span><span style="font-size: small; text-align: start;">told me her son said, "Emmy just <br>laugh and laugh and laugh." </span></td></tr>
</tbody></table>
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While receiving an autism spectrum disorder diagnosis may
have previously sounded scary to us, we welcomed this diagnosis because of the
opportunity it offers Emelyn to reach her full potential. We still remain
hopeful that Emelyn will one-day be able to communicate with us, and we feel
ABA therapy has the best potential to help her reach this goal. </div>
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<o:p></o:p></div>
Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com5tag:blogger.com,1999:blog-3894106909147217036.post-61155606311867297162016-07-02T19:58:00.000-04:002016-07-02T19:58:04.595-04:00Advancing research<div class="MsoNormal">
In Chicago we heard from UCSF neurologist Dr. Sherr,
Franklin & Marshall College neuroscientist Dr. Jinks, and University of
Queensland neuroscientist Dr. Richards about their research around our
daughters’ DDX3X mutation. While each of these researchers, along with their
wicked smart student researchers, are approaching their research in different
ways, they’re all collaborating and sharing information. I wish I could explain
exactly what each one of these teams are working on, but I’ll be really honest
and say tenth grade biology was more than 18 years ago and much of what they
talked about went way over my head.<o:p></o:p></div>
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<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhtNEdCUv66CMQsmBXk6JYem_OUgar04dX-PqbRA4E6i5qMLWjHzE6PIhKQPFb8Ecb4xB5MK3a-GEdEX_EkOZ-JhfYKBqW2NLi3Q3FqkZKnsDp2g68u3wWo-1p3Nez85F0U8XfojmKymcg/s1600/IMG_1231+%25281%2529.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhtNEdCUv66CMQsmBXk6JYem_OUgar04dX-PqbRA4E6i5qMLWjHzE6PIhKQPFb8Ecb4xB5MK3a-GEdEX_EkOZ-JhfYKBqW2NLi3Q3FqkZKnsDp2g68u3wWo-1p3Nez85F0U8XfojmKymcg/s320/IMG_1231+%25281%2529.JPG" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Dr. Jinks came over and chatted with Patrick, Emelyn, and I <br />about his research prior to his presentation. </td></tr>
</tbody></table>
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Here is what I can tell you though, the ultimate goals of
the research over the next few years are:</div>
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<o:p></o:p></div>
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(1) Understand the
biology of the condition<o:p></o:p></div>
<div class="MsoNormal">
(2) Test whether we
can (and by how much) improve the condition with post-natal intervention<o:p></o:p></div>
<div class="MsoNormal">
(3) Develop drugs
or other approaches to treat the condition<o:p></o:p></div>
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<br /></div>
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To achieve these goals, these researchers and their teams
will need to create a mouse model where the mice are bread with the DDX3X
mutation. The researchers will then attempt to answer questions like…Can the
DDX3X mutated gene be replaced with a non-mutated DDX3X gene to essentially
reverse the condition? Is the DDX3X mutated gene too active, not active enough,
or inappropriately active? Are there other similar gene mutations that can
guide their DDX3X research or can efforts be combined? Just to name a few.<o:p></o:p></div>
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Currently, the researchers are working off some existing
funding, but their funds are very limited. To create the mouse model will require
new funding. We’re looking at needing to raise around $225,000 to fund the next
two years of research. While grants may be an option, the best chance at making
this research happen comes from us—the moms, dads, families, and friends of our
DDX3X girls.<o:p></o:p></div>
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<br /></div>
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We’ve been told by the researchers that the DDX3X families
are some of the most active and engaged families they’ve come across. This
condition is so newly discovered, yet we already have an extremely active
private Facebook group, a website (ddx3x.org), and a foundation (The DDX3X
Foundation Fund). According to Global Genes, approximately 50% of rare diseases
do not have a disease specific foundation supporting or researching their rare
disease. To say we are blessed to be a part of this very special group would be
an understatement!<o:p></o:p></div>
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<br /></div>
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Along our journey, so many people have asked how they can
help support us. If you’re one of those people and in a position to help, here
are a few ways you can support the effort:</div>
<div class="MsoNormal">
</div>
<ul>
<li>Give a little, get a lot! Our sweet, kind Aubrey has also
been asking, “How can I help my sister and her friends?” This summer she’s on a
mission. We’ve ordered DDX3X wristbands to help Aubrey with her fundraising
efforts. She’s asking for a minimum donation of $5. Since our family paid for
the wristbands, 100% of the funds Aubrey raises will go straight to the DDX3X
Foundation Fund. Her goal is to raise $1,000 before school goes back in
September. Maybe even better than the wristband, is that each donation also
gets you a picture of Emelyn and Aubrey from their latest photo session.</li>
<li>Make it tax deductible! If you’re interested in making a tax
deductible gift, you have two options. Since the DDX3X Foundation Fund is a
501(c)3 non-profit, your donation is tax deductible. You can donate directly on
the <a href="http://www.ddx3x.org/">www.DDX3X.org</a> site, just click on the
Donate button in the top right corner to make a donation to The DDX3X
Foundation Fund. Or you can give (or mail) Aubrey a check, made payable to The
Delaware Community Foundation with DDX3X Foundation in the memo line. If you
need our new address (we moved in March), please email me. I’ll submit all the
checks in one batch once we have several and The Delaware Community Foundation
will send you out a tax letter acknowledging your donation. And Aubrey will
gladly send you’re a DDX3X wristband and photo of her and her sister.</li>
</ul>
<br />
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<o:p></o:p></div>
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<o:p></o:p></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgcONAmQUJCWkSXdG0Yge74gDumDNqk51WxLQThVfSM6yOLuEP4Gai8n3bpLYbm_F6hDmJbMEkMv6f-QkkgBvU6kymUU_E8u_WJqd6SSAikJMQiWxbMhJOfgy8uCXFFx4mcAtZ3fCs_XVc/s1600/Wrist.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgcONAmQUJCWkSXdG0Yge74gDumDNqk51WxLQThVfSM6yOLuEP4Gai8n3bpLYbm_F6hDmJbMEkMv6f-QkkgBvU6kymUU_E8u_WJqd6SSAikJMQiWxbMhJOfgy8uCXFFx4mcAtZ3fCs_XVc/s320/Wrist.JPG" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Aubrey's assembling bags with a DDX3X wristband<br />and a picture of Emelyn and her.</td></tr>
</tbody></table>
<div class="MsoNormal">
Many of the families are banding together to raise funds and
we’re excited to be doing our part. I’ll be sure to update you on our
fundraising efforts. And as we learn more from the researchers, I’ll be sure to
share. Until then, I’ll be brushing up on my biology.</div>
Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-83225863422971581912016-06-09T19:46:00.000-04:002016-06-12T16:12:36.475-04:00My kid doesn’t have sensory processing issues… or does she?<div class="MsoNormal">
I was asked by the school’s occupational therapist when we
began the school entry process if Emelyn had sensory processing issues. I
responded with a quick, “No,” and didn’t think too much about it. In my mind,
sensory processing disorder was about avoidance. When Aubrey was little, like
many kids, she couldn’t stand the feeling of grass or sand. And if a shirt
rubbed her the wrong way, she refused to wear it. That’s pretty typical and
something most kids outgrow. Because Emelyn never had those issues, I just
assumed she had no difficulties with sensory processing, but I was quite wrong.
Emelyn does have sensory processing issues, they’re just on the other end of
the spectrum. Emelyn is a sensory seeker, as are most of the other young ladies
with the DDX3X diagnosis. What does that mean?<o:p></o:p></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
Instead of shying away from textures, Emelyn actually seeks
these things out. She is what is known as hyposensitive, i.e. she registers sensations
less intensely than you or I. She loves splashing in water, swinging through
the air, playing instruments, sucking her finger, grinding her teeth, running
her fingers through the grass, etc. Emelyn also has a very high tolerance for
pain and a constant need to knock on and feel the world around her.<o:p></o:p></div>
<div class="MsoNormal">
<br /></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhxMz-Dxj5DHVHWbJbwZH20lkxaqQvx1E7fR8SVmpzTdWp4ZMvE-fe5PoJq6XH-9xqjXQNuxav_lZEMCPSnBScIOie2P5UBXMGJaZuJzRZUUa00pvW93ag0tsg53qLFm9TbZ-6E43dKsd4/s1600/IMG-1481.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="210" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhxMz-Dxj5DHVHWbJbwZH20lkxaqQvx1E7fR8SVmpzTdWp4ZMvE-fe5PoJq6XH-9xqjXQNuxav_lZEMCPSnBScIOie2P5UBXMGJaZuJzRZUUa00pvW93ag0tsg53qLFm9TbZ-6E43dKsd4/s320/IMG-1481.jpg" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Bath time is one of Emelyn's very favorite times. She can <br />
splash around long after the water turns cold.</td></tr>
</tbody></table>
<div class="MsoNormal">
Many of us have typical sensory input, that is, the little
receptors in our muscles give the appropriate signals from our muscles to our
brains (and vice versa) about where we are in space. For children like Emelyn,
with poor sensory input, she’s not quite sure where she is in space because her
muscles don’t communicate to her brain (and vice versa) as efficiently as yours
and mine. In other words, she has poor body awareness.</div>
<div class="MsoNormal">
<o:p></o:p></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
It was on our trip to Chicago that we really learned the
significance of sensory processing and how it can hold a child back. Lauren
Abel, the founder of <a href="https://thenextstepacademy.org/" target="_blank">The Next Steps Academy</a> in Houston, Texas, spoke to us
about how her school addresses sensory processing, and uses ABA (applied behavioral
analysis) therapy, to help children move from the primitive parts of their
brain to the more advanced parts of their brains where learning happens. Lauren
sat down and talked with Patrick, Emelyn, and I for nearly an hour, and I
soaked up every bit of information she offered. She played with Emelyn’s feet
and hands, she interacted with her, and she certainly helped Patrick and I
better understand how sensory processing affects Emelyn. <o:p></o:p></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjDKad2gZ1YNKZ9WgSaeKbfZzODrVGHHWPUl9D3NhgN3uPe44XZPqQHlunvJWbDxZahrbWbDWMZNhoR4HrfFgPLDxPO15tLTfdfG3WuWVmYd_3ZfRyHgpArv8bMP8NVmcLFDHFpH4K28ig/s1600/IMG_1480.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjDKad2gZ1YNKZ9WgSaeKbfZzODrVGHHWPUl9D3NhgN3uPe44XZPqQHlunvJWbDxZahrbWbDWMZNhoR4HrfFgPLDxPO15tLTfdfG3WuWVmYd_3ZfRyHgpArv8bMP8NVmcLFDHFpH4K28ig/s320/IMG_1480.JPG" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Emelyn's curled foot is a result of her immature sensory <br />
system. It's proof that her infant reflexes are still intact. </td></tr>
</tbody></table>
<div class="MsoNormal">
After that conversation, I would say Emelyn’s sensory
processing issues are quite pronounced. As she ages, I imagine we’ll continue
to see other sensory processing issues arise, especially if we don’t intervene.
As I’m finding with most of the other young ladies with DDX3X, therapy is a key
to addressing sensory issues. Just this past week we started a new therapy to
address Emelyn’s sensory issues. While she’s been in occupational therapy since
she was about 18 months old, we’re taking a different approach with different
goals.</div>
<div class="MsoNormal">
<o:p></o:p></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
This first major goal of this new therapy is helping
eliminate (or at least lessen) Emelyn’s infant or primitive reflexes. When you
hold a newborn baby and place your finger in her palm, what does she do? She
wraps her little fingers around your finger. This is an example of an infant
reflex. As a baby grows, her sensory system develops and these reflexes go away
to allow for more advanced sensory skills to develop. For Emelyn, because these
very basic sensory issues are still affecting her, she is not able to develop
to more advanced sensory skills, such as body awareness, hand-eye coordination,
and motor planning. <o:p></o:p></div>
<div class="MsoNormal">
<br /></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjannnJ-yLyijeOll_hdt196Q-rDphtRFGvfCvAg2ayXMDK_GFzFn5MGfFZ1R2k-xSGqub9Ghfw0dSk_gZVdKe1yScO6Y3nh1ENGDMMI8fueBokuLV0dV4rHi3hMznmYHp6AsVc0j4IbtY/s1600/IMG_1476.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjannnJ-yLyijeOll_hdt196Q-rDphtRFGvfCvAg2ayXMDK_GFzFn5MGfFZ1R2k-xSGqub9Ghfw0dSk_gZVdKe1yScO6Y3nh1ENGDMMI8fueBokuLV0dV4rHi3hMznmYHp6AsVc0j4IbtY/s320/IMG_1476.JPG" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">As you can see, Emelyn curls her fingers <br />
around my finger just as an infant would.</td></tr>
</tbody></table>
<div class="MsoNormal">
A second major goal of therapy is to work on Emelyn’s vestibular
and proprioceptive senses. While you may only talk about the five senses in
grade school. These are like the sixth and seventh senses. The vestibular sense
helps with movement and balance. It tells our body and head where we are in
relation to earth. It helps generate muscle tone, which we know in Emelyn is
low. The proprioceptive sense helps tell our muscles, joints, ligaments,
tendons, and connective tissue about position, such as, “Are you stretching or
contracting?” As you can imagine, when these senses are out-of-sync, they have
a profound effect on body awareness, motor planning, postural stability,
gravitational security, movement and balance, auditory-language processing,
visual-spatial processing, and muscle tone. </div>
<div class="MsoNormal">
<o:p></o:p></div>
<div class="MsoNormal">
As we progress over the summer with this new therapy, I’ll
be sure to share the progress. I’m very optimistic we can help Miss Emelyn work
through her immature sensory issues to achieve more advanced learning. <o:p></o:p></div>
<br />
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<br /></div>
<div class="MsoNormal">
If you’re interested in learning more about sensory
processing issues, I highly recommend a book that was recommended to me by
another DDX3X mom: The Out-of-Sync Child by Carol Stock Kranowitz <o:p></o:p></div>
Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-85549385595892471072016-05-15T17:30:00.001-04:002016-05-15T17:30:56.234-04:00Step-step, Emelyn<div class="yiv8497882529MsoNormal" id="yui_3_16_0_ym19_1_1463346836885_4354">
I've been long overdue with this post. Last month, Emelyn finally (after five months of waiting) has a gait trainer! </div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgEfVk5aBebd23kK5m-vTLtwGzICDjX6L49oI6hj7anCY4vK1DNKiiXKerJaDIHhc3hpE-HV-slseXmDG3nXPHAd4pzpOj5yGubW5Rhz7dz4BbscKgLFQ4sG8AlpLOFenUh8pCgp07eC_g/s1600/IMG_3569.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgEfVk5aBebd23kK5m-vTLtwGzICDjX6L49oI6hj7anCY4vK1DNKiiXKerJaDIHhc3hpE-HV-slseXmDG3nXPHAd4pzpOj5yGubW5Rhz7dz4BbscKgLFQ4sG8AlpLOFenUh8pCgp07eC_g/s320/IMG_3569.JPG" width="213" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Emelyn cruising in her gait trainer out in the cul de sac.</td></tr>
</tbody></table>
<div class="yiv8497882529MsoNormal">
Prior to the arrival of Emelyn's gait trainer, we had a borrowed gait trainer for a month or so thanks for CATS (Children’s Assistive Technology Service), but it’s not the one Emelyn really needed. The borrowed on was a little too restrictive and didn’t quite have the right hand/arm supports. But her new one, as Goldilocks would say, “Is just right.” And it couldn’t have come soon enough, because Emelyn is ready to go...well as long as there’s water at the end of the journey. So, I’ll stop typing now and give the people what they want…Emelyn cruising.</div>
<div class="yiv8497882529MsoNormal" id="yui_3_16_0_ym19_1_1463346836885_4370">
</div>
<div class="separator" style="clear: both; text-align: center;">
<iframe width="320" height="266" class="YOUTUBE-iframe-video" data-thumbnail-src="https://i.ytimg.com/vi/OaXEq8qCtVg/0.jpg" src="https://www.youtube.com/embed/OaXEq8qCtVg?feature=player_embedded" frameborder="0" allowfullscreen></iframe></div>
<div class="yiv8497882529MsoNormal" style="text-align: center;">
That giggle at the beginning…it’s just too much!</div>
<div class="yiv8497882529MsoNormal">
</div>
<div class="separator" style="clear: both; text-align: center;">
<iframe width="320" height="266" class="YOUTUBE-iframe-video" data-thumbnail-src="https://i.ytimg.com/vi/kwz7uRVAugk/0.jpg" src="https://www.youtube.com/embed/kwz7uRVAugk?feature=player_embedded" frameborder="0" allowfullscreen></iframe></div>
<div class="yiv8497882529MsoNormal" style="text-align: center;">
And those little legs in that bathing suit. Step-step, Emelyn.</div>
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</div>
<div class="yiv8497882529MsoNormal" id="yui_3_16_0_ym19_1_1463346836885_4360">
So, what is a gait trainer? As you can see from the photos, it’s a wheeled device. It’s intended for individuals (children or adults) with physical disabilities, to provide the opportunity to improve walking ability. This allows Emelyn to be more independent as she practices walking. Used properly, it will help her learn to walk the right way. </div>
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</div>
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As many of you know, I’m not determined that Emelyn walk independently. I’m much more determined that she have the right tools to communicate with us efficiently. However, I would love to see Emelyn be able to use her gait trainer to walk into school next school year. It doesn’t have to be the first day, but maybe by this time next year. I won’t be crushed if it doesn’t happen, but I like working towards a goal. I wonder if Emelyn feels the same way…</div>
Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-69547257903013480662016-05-03T18:00:00.000-04:002016-05-03T18:00:02.000-04:00What’s in a name?A question was asked on our Chicago trip, “Will our daughters’ genetic mutation get a name?” It’s a question I’ve wondered myself. DDX3X doesn’t exactly roll off the tongue. In fact, most people just know that Emelyn has a rare genetic disorder, and if they have a good memory they remember it’s on her X-chromosome and therefore only affects girls. There are very few who can spout off those four letters with that strange number somewhere in there. If you’re one of those people, don’t feel bad. I totally get it. And, to be honest, it’s more important to us that you know Emelyn, not her diagnosis. While DDX3X is certainly part of her, it does not define her.<br />
<br />
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhUQJk18kmrMiGdwe2Mv4vKEcXMn0VKXE0cKXk0DxHLvVdMQWmceZTwWrXykrjz-HXg44scJ7pgdCVqlFXSRIpQA6gqeggkLu828I9upikOxgN3P4BjCEDtwn-xAX27LqnMLbLJnOkcZ6c/s1600/IMG_1349_Aug+2014.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhUQJk18kmrMiGdwe2Mv4vKEcXMn0VKXE0cKXk0DxHLvVdMQWmceZTwWrXykrjz-HXg44scJ7pgdCVqlFXSRIpQA6gqeggkLu828I9upikOxgN3P4BjCEDtwn-xAX27LqnMLbLJnOkcZ6c/s320/IMG_1349_Aug+2014.jpg" width="318" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">The adorable Emelyn at around 18 months old. It would be several more months before the DDX3X mutation would be identified as a true diagnosis and another year before we would receive the diagnosis for Emelyn. </td></tr>
</tbody></table>
So, back to the question, will Emelyn’s diagnosis get another name…maybe one you can actually remember? The chances are, no. And here’s the reasoning. Through modern technology, new genetic disorders are being discovered every year. And each of them can’t get its own name. <br />
Names can be descriptive, such as polycystic renal disease or cystic fibrosis. Or names can come from the person who discovered it, such as Down Syndrome discovered by Dr. John Langdon Down in 1866. And sometimes, names can come from a person who had the disease, such as Lou Gehrig’s disease in the case of amyotrophic lateral sclerosis (ALS) or Christmas disease named after Stephen Christmas, a boy first observed with the disease. <br />
Usefulness is the key factor when naming a disease, therefore DDX3X is likely the name that is the most useful. It tells you exactly what gene is affected. That’s not to say that DDX3X will always be the name, but for now, it doesn’t appear to be going anywhere.Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-81083116997224623452016-04-22T22:41:00.000-04:002016-04-22T22:41:54.754-04:00Corpus CallosumElliott Sherr, M.D., Ph.D. of the University of California, San Francisco (UCSF) was among one of several presenters at the Chicago family gathering earlier this month. As a pediatric neurologist, Dr. Sherr has spent a significant portion of his career studying the brains of children with malformations, specifically agenesis of the corpus callosum. What is agenesis of the corpus callosum you ask? It is a when the corpus callosum, which is the connector of the two hemispheres in the brain, fails to develop normally. It may mean it doesn’t develop at all, or it may mean it develops, but it’s too short, too thin, or misshapen. This is a condition that occurs in the very early stages of pregnancy.<br />
<br />
<br />
<br />
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiTv0UUBMq_6zNbQn1nFZ1DsToN9ViXrN_lvMMmRRONT5c9IcOOMHdxMfXzCnv9zUL1-FrvLse3TbaCqmugx6qN8qPXmvb3LUjwpHauA5_SSMnos6o1D5eC7TrMJ2SlezptW1fcHrNWzQ0/s1600/IMG_1240_Dr.+Sherr.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiTv0UUBMq_6zNbQn1nFZ1DsToN9ViXrN_lvMMmRRONT5c9IcOOMHdxMfXzCnv9zUL1-FrvLse3TbaCqmugx6qN8qPXmvb3LUjwpHauA5_SSMnos6o1D5eC7TrMJ2SlezptW1fcHrNWzQ0/s320/IMG_1240_Dr.+Sherr.jpg" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Dr. Sherr discussing his research on the corpus callosum. And if you're wondering, the corpus callosum is the solid white center piece in his image that looks (to me) like a slice from a bell pepper.</td></tr>
</tbody></table>
<br />
In the only study currently published about the DDX3X mutation, Patrick and I saw reference to agenesis of the corpus callosum, but assumed Emelyn did not have this condition. Her MRI conducted at 10 months old, read here locally by a radiologist, referenced her under developed hippocampus and enlarged ventricles, but there was no reference to agenesis of the corpus callosum. As part of the study we’ve enrolled Emelyn in through UCSF, we provided our MRI images to Dr. Sherr and his research team. Shortly after returning from Chicago we received their interpretation of the images. Emelyn, does indeed have a thinning of her corpus callosum. <br /><br />
So, what does that mean? The corpus callosum is a key player in allowing the right side of the brain to talk to the left side of the brain (and vice versa) in a synchronized way. Synchronized communication between the two hemispheres of the brain is what allows us to walk, talk, socialize, etc. If the corpus callosum (the connector) isn’t formed properly, the pathways from the left side to the right side (and vice versa) may misfire or not fire at all. When you ask Emelyn, “Are you ready to eat?” and you put your hands out, it’s going to take several seconds before she raises her little arms to be picked up. This is likely a result of her brain working much harder to connect the two sides, then send those signals down to the muscles of her arms. <br /><br />
Dr. Sherr isn’t just interested in the brain, he’s interested in the genes behind brain malformations as well. In a <a href="http://www.ncbi.nlm.nih.gov/pubmed/23054201" target="_blank">2013 study</a>, Dr. Sherr and other researchers found that 45% of the children with agenesis of the corpus callosum met the criteria for autism. It’s then that Dr. Sherr and his researcher look to genetics for a cause. And in cases like DDX3X, there appears to be a correlation between genetics causing the malformation. It’s research like this that will help us learn more about not only DDX3X, but other neurological disorders as well.<br /><br />
If you’re like me or any of the other parents listening to Dr. Sherr a few weeks ago in Chicago, you’re asking, can the brain somehow compensate for a faulty connector? And the answer is yes! There are certainly things that we can do to help our children build new pathways, however, it’s imperative that we do it when their young. Maybe you’ve know a child with autism, and with extensive therapy, he or she has been able to make huge strides to overcome his or her challenges. I can certainly think of a few of these children. Their parents started when they were young…they fought and they pushed and they’re still pushing…and as a result, new pathways are formed. <br /><br />
For Emelyn, we’re still trying to find ways to build new pathways while her brain is malleable. She’s certainly on the therapy circuit with each week consisting of hippotherapy, occupational therapy, speech therapy, physical therapy, and music therapy. She’s in a special education pre-school two half days a week. We’re exploring the possibility of other approaches, such as applied behavioral analysis and/or functional treatments. There are even diets we’re actively researching. I have only touched on a tiny portion of Dr. Sherr’s presentation, and I plan to share more about ways we can further the research, but I promised to create bite size, digestible pieces.<br /><br />
We walked away with so much from our trip to Chicago, and while there was no charismatic motivational speaker like a typical conference, we certainly walked away motivated. We’re motivated to challenge the status quo and to explore new options. We were inspired by each and every speaker, but more importantly, by the other families and young ladies in attendance. We’re pioneers in a sense and we’re leading the charge for our daughters’ futures. Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com2tag:blogger.com,1999:blog-3894106909147217036.post-65029455843091623802016-04-16T22:11:00.000-04:002016-04-17T18:45:20.107-04:00ChicagoIt’s a ten hour drive from southwest Virginia to Chicago, IL. We left in the early hours of Saturday morning to get a jump start on driving and quickly found ourselves second guessing that decision, and maybe even the decision to drive instead of fly. Despite being the second week of April, the roads were awful. Every bridge was iced over and the further we drove the more the temperature dropped. Within our first 30 miles we passed two wrecks, both on bridges. By the time we hit West Virginia, a place I’ve spent very little time in the past, I was struck by several things. First, what happened to spring? It was clearly still the dead of winter there. And second, why do they have so many bridges? Every single one with an anxiety-invoking “bridges ICE before roads” sign. After three white-knuckle hours on the “wild and wonderful” bridges of West Virginia, we hit Ohio, which brought the return of spring, far fewer bridges, and naps for Emelyn and me.<br />
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<tr><td class="tr-caption" style="text-align: center;">Welcome to spring in West Virginia.</td></tr>
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Indiana was probably our favorite state. The wind turbine farm on I-65 was fascinating. Emelyn, who loves a good ceiling fan, was enamored with the giant twirling objects that appeared out of nowhere and stretched across the Indiana plains for miles (there are 303 total according to Wikipedia). We’re considering one for the next house, though I’m sure the HOA will say otherwise.<br />
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Hitting the Illinois state line signaled the end of the journey, because you’re basically in Chicago at that point. Patrick and I were amazed. While Emelyn’s typically a good traveler, we still anticipated her to grow tired of riding in her car seat playing with the same few toys for hours, but we were pleasantly surprised. Emelyn had not fussed or cried the entire day. As long as she was moving, she was content. The traffic in Chicago, while light because it was a Saturday, caused a few discontent sounds in the backseat, but still no tears. West Virginia aside, it was an uneventful and pleasant drive.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjRDQFXh2Hk_wxhDzzCb6ptuyxcUSNGDEDhnv1DOVXQ0IU9qnPA_fBRKjrC8JIRGMQGCjzHTO1XH1g2NHWZFxDUAsxT6dyxNFK7JPPjG006iPDNotW2ymTnR1nXAseHfs-uQ_AD8IQlRMo/s1600/IMG_0507_Chicago+skyline.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjRDQFXh2Hk_wxhDzzCb6ptuyxcUSNGDEDhnv1DOVXQ0IU9qnPA_fBRKjrC8JIRGMQGCjzHTO1XH1g2NHWZFxDUAsxT6dyxNFK7JPPjG006iPDNotW2ymTnR1nXAseHfs-uQ_AD8IQlRMo/s320/IMG_0507_Chicago+skyline.JPG" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">The Chicago skyline.</td></tr>
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To fully explain our Chicago experience – what we learned, the conversations we had, the connections we made, I will need to spend hours upon hours typing. And to be honest, we still haven’t fully digested it all. So, my plan is to tackle Chicago in several posts. That will be more manageable for me, and much more digestible for you. I’ll plan to cover everything from sensory processing disorder and ABA therapy to research studies and knockout mice to the naming conventions of newly discovered genetic disorders and everything in between.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhm5XAu-vhpXnMhsCb1JeRcUzz8x9JDoXXP_YGyWT_JEQiJRIAh_8Z3vp9IaLD2yylt1yvOYcMbDpkpVVlJgC0ibML0CGboOt1Le9Re74dbDcpZmYkEKZ32bIZD-WI3PqE7weC-joZoYGU/s1600/IMG_0501_Chicago+sleepy+tour.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhm5XAu-vhpXnMhsCb1JeRcUzz8x9JDoXXP_YGyWT_JEQiJRIAh_8Z3vp9IaLD2yylt1yvOYcMbDpkpVVlJgC0ibML0CGboOt1Le9Re74dbDcpZmYkEKZ32bIZD-WI3PqE7weC-joZoYGU/s320/IMG_0501_Chicago+sleepy+tour.JPG" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">The sights and sounds of Chicago were just <br />
too much for Emelyn.</td></tr>
</tbody></table>
Our expectations for Chicago were fairly ambiguous. We knew we’d have the opportunity to meet other young ladies with Emelyn’s same diagnosis and their families, hear from educational, medical, and research professionals working directly with those affected with the DDX3X gene mutation, and, of course, eat some Chicago-style deep dish pizza. Chicago certainly met these expectations and more. Yes, it brought us connections, information, and obnoxious amounts of cheese, but most of all, it brought us hope. We left Chicago with a deep sense of hopefulness for Emelyn and for all the young ladies who have an extra special DDX3X gene.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiCWC8SuRy8BSRHwgs0xPYDW2gRwz43JpCDhrrRyw9XX0EWgBcKG78w1oHY4ImbRdR5A2IMz_HKoDwmaOGGlzjrn6pr1MzgfE8zbxZ7BLfTz8RjV3ibR_kz1IeaMudN6e8Y1jGKWYw4-4E/s1600/IMG_0510_pizza.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiCWC8SuRy8BSRHwgs0xPYDW2gRwz43JpCDhrrRyw9XX0EWgBcKG78w1oHY4ImbRdR5A2IMz_HKoDwmaOGGlzjrn6pr1MzgfE8zbxZ7BLfTz8RjV3ibR_kz1IeaMudN6e8Y1jGKWYw4-4E/s320/IMG_0510_pizza.jpg" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">It was as good as it looks!</td></tr>
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Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com1tag:blogger.com,1999:blog-3894106909147217036.post-37302503308165662932016-04-10T23:29:00.001-04:002016-04-10T23:29:08.273-04:00Life is made more meaningful through connectionsOn September 16, 2015 we laid eyes on other little girls with Emelyn's same DDX3X diagnosis for the very first time. It was the same day we received Emelyn's diagnosis and through social media we instantly connected through a private Facebook group. The group wasn't large, since her diagnosis was so newly discovered, but it was like winning the lottery. Seeing those little girls' faces was such an incredible blessing. I can't fully put into words why seeing their faces and their beautiful smiles brought comfort to us. Maybe it was as simple as knowing there are other families on this same journey and knowing we weren't alone. Little did I know where we'd be less than a year later.<div><br></div><div>Today, April, 10, 2016, is another memorable day. Today we met many of those same little girls who brought comfort and belonging to us that day seven months ago. Not only that, we met their moms, dads, and other meaningful people in their lives. Life is made more meaningful by connections and today was about just that. </div><div><br></div><div>There are about 20 families represented at this weekend gathering. Our girls are all wildly different, and yet so very similar. Meeting them, interacting with them - it's a priceless experience. I plan to recap the entire weekend in much more detail, but I couldn't help pausing to acknowledge the significance of today. And to wonder, what will be possible a year from now? <div class="separator" style="clear: both;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh4sLf9Da76mLzzpamUaViVyodzTIYl5qWxaBVOFYmnSwIxiBoVOYlsZJ_zT7czyZ2K9rq7cOY3dLbikSaRxKLMkpXTs-cCz_AEwzIWKf_lPtu6Eou6N0_2sWQYXAFHyyzfRSl5GaggRsY/s640/blogger-image-177184112.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh4sLf9Da76mLzzpamUaViVyodzTIYl5qWxaBVOFYmnSwIxiBoVOYlsZJ_zT7czyZ2K9rq7cOY3dLbikSaRxKLMkpXTs-cCz_AEwzIWKf_lPtu6Eou6N0_2sWQYXAFHyyzfRSl5GaggRsY/s640/blogger-image-177184112.jpg"></a></div></div>Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-29838007227574145322016-03-25T20:11:00.002-04:002016-04-07T23:46:25.271-04:00Another milestone for Emelyn...3!I apologize I haven’t been very active on the blog this year so far. As many of you are aware, it’s been a busy few months for our family. Probably the biggest news is: we sold our house! We’ll break ground on our new house next month. On top of that, we’ve each been busy with work, school, and other activities, but I do want to give you a quick update on how Miss Emelyn Grace is doing, so here goes:<br />
<br />
Emelyn celebrated her third birthday on Sunday. I still can’t believe she’s three years old. If you have the opportunity to ask her how old she is, I recommend it, she thinks it’s the funniest question ever! She’s continuing to grow and thrive.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh_O3rcq3Y3e_kpSXW4i2Uh5QyRxOPY4YqXNBW-0Fd_LLSDl2yxiyC2uWvvkHaBbd7hLdv6BvnIvVR4ApQI9yOuQ1zWtyIeqKrcPm-Xtl-TralYPJltcA497T3pFr7_xefgsVnEM63F6MM/s1600/IMG_3508.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="213" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh_O3rcq3Y3e_kpSXW4i2Uh5QyRxOPY4YqXNBW-0Fd_LLSDl2yxiyC2uWvvkHaBbd7hLdv6BvnIvVR4ApQI9yOuQ1zWtyIeqKrcPm-Xtl-TralYPJltcA497T3pFr7_xefgsVnEM63F6MM/s320/IMG_3508.JPG" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Emelyn's delicious birthday cake made by the <br />
talented Lisa Link. Emelyn loved the lemon filling.</td></tr>
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiBZDsP0HZ2lpTSOiAJZ0Y7aRmIrWCyb1MjoLtvVocMfiCisu2_2fzBUe6LpnFl7dPyV0JwhTu3idmUFnEGBFhAffU06U_R7VSfzAFsea90h64Mnb0TSC5kH2B6uvqgCQYHagYp_PuNrBw/s1600/IMG_3513.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiBZDsP0HZ2lpTSOiAJZ0Y7aRmIrWCyb1MjoLtvVocMfiCisu2_2fzBUe6LpnFl7dPyV0JwhTu3idmUFnEGBFhAffU06U_R7VSfzAFsea90h64Mnb0TSC5kH2B6uvqgCQYHagYp_PuNrBw/s320/IMG_3513.JPG" width="213" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Look how tall I'm getting!</td></tr>
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School seems to be going well. She’s certainly learning to share. Unfortunately, she’s mostly just sharing germs. She’s had a few colds, plus pink eye and strep throat. All of which she’s kindly shared with me. (She shared the strep with Jean as well.) All things considered, we’re grateful to have only had to deal with these minor illnesses.<br />
<br />
Emelyn has also re-started speech therapy. When early intervention ended at the beginning on January, we decided to reevaluate speech and selected a new provider. While we really liked our previous two speech therapists, we felt it was time to try something new. So far, we’re very pleased with the new direction we’re getting. One of our main goals for Emelyn continues to be communication.<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjOjD6UPh2SFisFQNUJImtMQluScNKUcKDvZyLlP_qGyzNYLlQKNM7GB4dPuFeY5d2_dzgkHoFzaJsIwkD__vgYCNvz4OeN-1pcoF6O4lkpmYF71BkUrFhjvjzfIcc_5TOKoIVnUkwT8us/s1600/pic3.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjOjD6UPh2SFisFQNUJImtMQluScNKUcKDvZyLlP_qGyzNYLlQKNM7GB4dPuFeY5d2_dzgkHoFzaJsIwkD__vgYCNvz4OeN-1pcoF6O4lkpmYF71BkUrFhjvjzfIcc_5TOKoIVnUkwT8us/s320/pic3.jpg" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Emelyn certainly knows the word "swing." <br />
Her arms instantly go up in the air when <br />
you offer to go swing.</td></tr>
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On Monday, Emelyn will start up hippotherapy again. I’m very excited for her to be able to get back on the horses and to see what this session brings in the way of progress for her. Her other therapies, like physical therapy and music therapy, continue to go well. Any day now Emelyn should be the proud new owner of a gait trainer to help her develop her walking skills. Until then, she’s become quite efficient at using her signature crawl to get her around.<br />
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The next few months will continue to be busy, but I’ll be sure to update the blog with progress and pictures of Emelyn at hippotherapy and in her new gait trainer. We also have a special Chicago trip planned in April for Miss Emelyn. More to come on that!<br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEilbQBA6XpwKOgzVD66mBjK230hLjtIBHKJkx7G3WPWNeKa96WGO_bItH0ZUOMcFuuXGfKQVsSu7nrrGm3R1w66By6zqpZUhcKgRyuvaaICSLJxeEUxXxDG1fEXSgVa5O1_Uiw59Ze5qQ8/s1600/IMG_3549.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="213" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEilbQBA6XpwKOgzVD66mBjK230hLjtIBHKJkx7G3WPWNeKa96WGO_bItH0ZUOMcFuuXGfKQVsSu7nrrGm3R1w66By6zqpZUhcKgRyuvaaICSLJxeEUxXxDG1fEXSgVa5O1_Uiw59Ze5qQ8/s320/IMG_3549.JPG" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Aubrey was a big helper with Emelyn's birthday <br />
presents. Emelyn thinks her big sister is quite the <br />
comedian.</td></tr>
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<br />Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-38796062147638992792016-02-28T14:30:00.001-05:002016-02-28T14:32:26.536-05:00Take a leap<!--[if gte mso 9]><xml>
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<w:LsdException Locked="false" Priority="39" SemiHidden="true"
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<w:LsdException Locked="false" Priority="48" Name="Grid Table 3"/>
<w:LsdException Locked="false" Priority="49" Name="Grid Table 4"/>
<w:LsdException Locked="false" Priority="50" Name="Grid Table 5 Dark"/>
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<w:LsdException Locked="false" Priority="46"
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<w:LsdException Locked="false" Priority="49" Name="Grid Table 4 Accent 1"/>
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<w:LsdException Locked="false" Priority="52"
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<w:LsdException Locked="false" Priority="46"
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<w:LsdException Locked="false" Priority="51"
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<w:LsdException Locked="false" Priority="52"
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It comes only once every 1,461 days – February 29 – leap day.
It’s only appropriate then, on this rare and special day, to celebrate those
who are also rare and special. On this leap day, we’ll celebrate Emelyn and the
millions of other children, adults, and their families affected by a rare
disease. Because DDX3X is so newly discovered, it’s hard to know exactly how
rare it truly is. There are likely lots of young ladies out there with her same
gene mutation who just haven’t been diagnosed yet. By leap day 2020, we may
have a better grasp on the true number of affected females. </div>
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Like Emelyn’s rare diagnosis, 80% of rare diseases are
genetic in origin and thus are present throughout a person’s life. Here are a
few other interesting facts from <a href="https://globalgenes.org/" target="_blank">Global Genes</a> about rare diseases:</div>
<br />
<ul>
<li><span style="font-family: "symbol"; mso-bidi-font-family: Symbol; mso-fareast-font-family: Symbol;"><span style="mso-list: Ignore;"><span style="font: 7.0pt "Times New Roman";"></span></span></span>There are approximately 7,000 different types of
rare diseases and disorders, with more being discovered each day</li>
<li><span style="font-family: "symbol"; mso-bidi-font-family: Symbol; mso-fareast-font-family: Symbol;"><span style="mso-list: Ignore;"><span style="font: 7.0pt "Times New Roman";"></span></span></span>30 million people in the United States are
living with rare diseases; this equates to 1 in 10 Americans or 10% of the U.S.
population</li>
<li><span style="font-family: "symbol"; mso-bidi-font-family: Symbol; mso-fareast-font-family: Symbol;"><span style="mso-list: Ignore;"><span style="font: 7.0pt "Times New Roman";"></span></span></span>If all of the people with rare diseases lived in
one country, it would be the world’s third most populous country</li>
<li><span style="font-family: "symbol"; mso-bidi-font-family: Symbol; mso-fareast-font-family: Symbol;"><span style="mso-list: Ignore;"><span style="font: 7.0pt "Times New Roman";"></span></span></span>Approximately 50% of the people affected by rare
diseases are children</li>
<li><span style="font-family: "symbol"; mso-bidi-font-family: Symbol; mso-fareast-font-family: Symbol;"><span style="mso-list: Ignore;"><span style="font: 7.0pt "Times New Roman";"></span></span></span>Approximately 50% of rare diseases do not have a
disease specific foundation supporting or researching their rare disease</li>
</ul>
<br />
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And until just this month, the last bullet point was true
for DDX3X. Thanks to the hard work of some DDX3X parents, DDX3X now has a
foundation and website: <a href="http://ddx3x.org/">ddx3x.org</a>. And, you can read Emelyn’s story, along with
the stories of other little girls, on the site. I hope you’ll take a few
minutes tomorrow, on World Rare Disease Day, to check out the website, learn
more about DDX3X, and help raise awareness. </div>
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<br /></div>
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi9avDNbo66EuYEtz4DkWzRVLo894G0Sj4RdBw1fui6v54jDtVY_t-GSIZ-lJqHWzf89DBnf13CFtYX3q-VuEVRlKl6hdke36hNaQr7VxufwJigJBjNjCwimNP-Obu36XAO0ezsUwH-W-Q/s1600/Rare+Disease+Day.png" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEi9avDNbo66EuYEtz4DkWzRVLo894G0Sj4RdBw1fui6v54jDtVY_t-GSIZ-lJqHWzf89DBnf13CFtYX3q-VuEVRlKl6hdke36hNaQr7VxufwJigJBjNjCwimNP-Obu36XAO0ezsUwH-W-Q/s320/Rare+Disease+Day.png" width="320" /></a></div>
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<br /></div>
Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com2tag:blogger.com,1999:blog-3894106909147217036.post-91875704441633758402016-01-22T11:15:00.000-05:002016-02-28T14:32:58.879-05:00Worry<!--[if gte mso 9]><xml>
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<div class="MsoNormal">
At our house, we spend a lot of time focusing on the here
and now. While the here and now is sometimes stressful and chaotic, it’s often
filled with a sense of happiness. However, I’d be a liar if I told you I don’t
worry about Emelyn’s future. While I don’t have a crystal ball, her diagnosis
gives us a glimpse into her future. Emelyn will likely face challenges with
communication as many girls with DDX3X are non-verbal or have very limited
spoken language. Due to Emelyn’s low muscle tone, she’ll likely struggle with
both fine and gross motor skills making everyday tasks like climbing stairs or
preparing meals cumbersome. We work every day with therapies at school, in the
clinic, and at home, to help Emelyn overcome these challenges, yet the worry is
still there. </div>
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Last week, I had the opportunity to meet Beth and her older
sister, Melissa. They also gave me a glimpse into Emelyn’s future. Beth, now a
grown woman, was about Emelyn’s age when her parents received her developmentally
delayed diagnosis. While Beth’s mother served as her advocate for much of her
childhood and into adulthood, it was Beth’s sister, Melissa, who picked up the
torch to keep Beth’s best interests front and center as their parents aged. As
Melissa and I spoke for the first time, we brought each other to tears. I
admitted how I once thought Emelyn would be a burden to my oldest daughter, now
and into the future, but how I’d really grown to know that wasn’t true. I told
Melissa her relationship with Beth gave me so much hope and joy for my own
daughters. Melissa told me that Aubrey will not only want to take care of her
sister, but she’ll be in a better place to empathize and care for others for
the rest of her life. “She’s going to be an amazing person because of her
sister,” she told me. <span style="mso-spacerun: yes;"> </span></div>
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<br /></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjdXFzWKDIzexEQDbJzkrpy5H4ullKjUSOXGOah5BrO0T4yJPp0fI_RJ7A2sJzOnVgWFLLo73SIi60EJB8FiZ6uBaFNpRiYP4Ftc30BHhcNVxTHnz-tuliD9RAZZAIrWvHVRWrYJqLS4KY/s1600/IMG_0681.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjdXFzWKDIzexEQDbJzkrpy5H4ullKjUSOXGOah5BrO0T4yJPp0fI_RJ7A2sJzOnVgWFLLo73SIi60EJB8FiZ6uBaFNpRiYP4Ftc30BHhcNVxTHnz-tuliD9RAZZAIrWvHVRWrYJqLS4KY/s320/IMG_0681.JPG" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Aubrey was super excited to get footie pajamas, but <br />
even more excited when her sister got a matching pair.</td></tr>
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Aubrey’s not blind to Emelyn’s developmental delays. In
fact, when Emelyn was born, so were several other babies in and around our
family. Those babies, now approaching three years old, have been walking and
talking for nearly two years. We’ve always told Aubrey, and other children who
ask, “All children are different and Emelyn is just on her own schedule.” It’s
not a lie, but it’s not the whole truth either. I’ve always wondered, do we sit
Aubrey down and have “the talk” with her about Emelyn? While we’ve always
answered every one of Aubrey’s questions with as much detail as necessary for a
six year old and tried to encourage her to share her thoughts and feelings
about things that concern her, “the talk” always seemed unnecessary, at least
right now. I was grateful to Melissa for reassuring me that I don’t have to
have “the talk” with Aubrey. She told me Aubrey will learn from Patrick and I
how to stick-up for her sister. And one day, when the time is right, “the talk”
will just naturally happen. Until then, we’ll let Aubrey observe, ask
questions, and continue to develop a profound love for her sister.</div>
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg2-wKIhmkc0iW0T-uv6QiVHVkj0XPTJyBhg2028JnAOVQgA_DMhmi6trg2Go7XvFr1cn4rpHSBTz-4GdWI4H7Ff7_9jEzJ2w6dXD22z3yOyasFFEv3ymGKK0EuI8vheZDbEsza8XM62A0/s1600/IMG_0686.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg2-wKIhmkc0iW0T-uv6QiVHVkj0XPTJyBhg2028JnAOVQgA_DMhmi6trg2Go7XvFr1cn4rpHSBTz-4GdWI4H7Ff7_9jEzJ2w6dXD22z3yOyasFFEv3ymGKK0EuI8vheZDbEsza8XM62A0/s320/IMG_0686.JPG" width="240" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Most younger siblings look up to their <br />
older siblings...in our house, it's Aubrey who <br />
looks up to Emelyn.</td></tr>
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Worry…it’s a pointless activity all parents do. Before
Emelyn, I spent far too much time worrying (and complaining) about the most
ridiculous things, and I’m not saying I don’t do that anyone, but I can promise
you it’s a lot less frequent. Being a special needs parent brings a different
perspective to life and for that, I’m grateful. I’m grateful this different
perspective will be a part of Aubrey too. Meeting people like Melissa and Beth
is a reminder of the love and support that will always fill Emelyn’s life. And
because of that, I have no reason to worry.</div>
Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0tag:blogger.com,1999:blog-3894106909147217036.post-65699632818746151302016-01-10T16:43:00.000-05:002016-01-10T16:44:52.603-05:00At least she didn't say bah humbug to school...<div class="yiv7987339067MsoNormal" id="yui_3_16_0_1_1451790748253_422709" style="background-color: white; font-family: 'Helvetica Neue', 'Segoe UI', Helvetica, Arial, 'Lucida Grande', sans-serif; font-size: 13px; padding: 0px;">
Who would have thought it, but Emelyn may have enjoyed school more than she enjoyed Christmas. Leading up to Christmas, Emelyn seemed into the holidays. She enjoyed the Advent services at church on Sundays, she listened to Christmas music with interest, and she even cracked up every time we asked her if she wanted to sing Jingle Bells. You would have thought celebrating Christmas with family and friends would have been fun too, right? What two year old doesn’t love presents, lots of cousins to play with, and unseasonably warm December days? Not Emelyn, that’s who! It was all just a little too much for her. Even the wrapping paper and bows were met with tears. She was over it before Christmas day even arrived. While Aubrey opened presents (typically everyone’s presents for them), Emelyn attempted to crawl out of the room, sometimes before the first present was even opened. And when we attempted to return her to the group, we were met with a very cranky little two year old. By the Monday following Christmas, she was back to her chipper self and while she had some new toys to play with, she still ventured to her old ones, as if to say, "I’m really not into the whole Christmas thing." I guess there’s always next year.</div>
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgGvnyeapJPb71O6SVWWmsBG7c_GXlblc1JUgjU5nTe8fzEkfZveGa_m_Awawa_I1m8L30Gjh9GOJcPFf4BkhVn129-MZY1XGXR2kBDI5kJ_pN4AURz507epS4vBXSrsPiKP_Xqk9Vmebo/s1600/IMG_3378.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgGvnyeapJPb71O6SVWWmsBG7c_GXlblc1JUgjU5nTe8fzEkfZveGa_m_Awawa_I1m8L30Gjh9GOJcPFf4BkhVn129-MZY1XGXR2kBDI5kJ_pN4AURz507epS4vBXSrsPiKP_Xqk9Vmebo/s320/IMG_3378.JPG" width="213" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Emelyn with the giggles on Jan. 5, her first <br />
day of preschool at East Salem Elementary School.</td></tr>
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<span style="background-color: white; font-family: 'Helvetica Neue', 'Segoe UI', Helvetica, Arial, 'Lucida Grande', sans-serif; font-size: 13px;">School, on the other hand, seems to be a winner in Emelyn’s book! She went from high-strung and cranky to laid-back and up-for-anything…in other words, back to her normal self. She got on the bus like a champ. The look on her face as she rode the chairlift in her stroller was priceless. And circle time, complete with story and singing, went well too. I was a little worried she might decide she could crawl away if she wasn’t interested, like she does at home when I pick a less than thrilling book or song. Luckily, we’re off to a good start. Thanks for all the love and excitement as Emelyn began her new journey this week. We’ll be sure to keep you posted as her journey continues.</span><br />
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<tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEikMVZRsBSHwOzLnHk7egH_E9WHzPjXuGpZJIgvj1CVUC2LzJhgDFPOmvA7tqx-9PrJna44DX0fZrA2bGZvztfEnSxtG6DeOBmIVmdA3iDK_KNB3xrmNS67Sea3iISBk4bsAYjDcrehyphenhyphenRo/s1600/IMG_3383.JPG" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEikMVZRsBSHwOzLnHk7egH_E9WHzPjXuGpZJIgvj1CVUC2LzJhgDFPOmvA7tqx-9PrJna44DX0fZrA2bGZvztfEnSxtG6DeOBmIVmdA3iDK_KNB3xrmNS67Sea3iISBk4bsAYjDcrehyphenhyphenRo/s320/IMG_3383.JPG" width="213" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Daddy showing Emelyn the bus on the first day.</td></tr>
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Jamie Sneadhttp://www.blogger.com/profile/09728406045507104895noreply@blogger.com0