Celebrating a rare girl on a rare day!

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. 

To learn more about Emelyn’s rare syndrome, visit ddx3x.org and follow our Facebook page: https://m.facebook.com/ddx3xfoundation

Navigating the rough seas that come with advocating for your child

If 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.

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. 

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: New diagnosis, new therapy, new opportunities and ABA, it may not be what you think it is.) 

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.  

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.

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?

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:

Leadership Strategy Manual for Navigating Elementary School Services for Children with a DDX3X Genetic Mutation (Also available for download on Hollins Digital Commons.)

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.

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.

Graduation day with Patrick and Aubrey.
It was a gorgeous day on the Hollins campus.

Reflecting on 2016

Everyone 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:

School: 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.

Care team: 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.”

Health: 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.

Community: 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.

Church: 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.  

Friends: 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.

Family: 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.

Diagnosis: 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.

Siblings: 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.

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!

New diagnosis, new therapy, new opportunities…

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.

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.

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.

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.

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.

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.  

It's easy to see why one of the moms at
ABCs told me her son said, "Emmy just
laugh and laugh and laugh." 

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.      

Another 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:

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.

Emelyn's delicious birthday cake made by the
talented Lisa Link. Emelyn loved the lemon filling.

Look how tall I'm getting!

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.

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.

Emelyn certainly knows the word "swing."
Her arms instantly go up in the air when
you offer to go swing.

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.

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!

Aubrey was a big helper with Emelyn's birthday
presents. Emelyn thinks her big sister is quite the
comedian.

At least she didn't say bah humbug to school...

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.

Emelyn with the giggles on Jan. 5, her first
day of preschool at East Salem Elementary School.

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.

Daddy showing Emelyn the bus on the first day.

The next great adventure

As 2015 comes to an end, so too does our Early Intervention services for Emelyn. And with the end of Early Intervention comes Emelyn’s next great adventure. On January 5, 2016, we send our 26 lb. two-year old off to East Salem Elementary School. Two days a week, she’ll be picked up by a bus in front of our house and taken off to Salem’s preschool special education program. While I wasn’t terribly sentimental about the change, another member of our family couldn’t seem to contain her emotions. Yes, Aubrey! When we casually mentioned Emelyn’s new adventure to Aubrey and she instantly became very sappy. At one point, in a high-pitched, shaky voice she declared, “I may actually cry tears of joy.” (She’s also quite concerned that Emelyn doesn’t have a book bag and school supplies. Emotional and practical, that girl.)

Emelyn and Aubrey visiting Santa in New Castle to
kick-off the Christmas season.

To Aubrey, going to school means Emelyn will learn to talk and walk. And to some extent, she’s right. While I don’t think Emelyn will be delivering messages to Aubrey’s East Salem friends, like Aubrey would like her to, I do have great hopes Emelyn will find her voice in preschool in 2016. It may not be spoken language, but maybe she’ll be able to find ways to “speak” to us using an alternative communications method. And between Emelyn’s curiosity about walking and the goals we put in her IEP (Individualized Education Program), walking independently in a gait trainer is a reasonable expectation this coming year for Emelyn.

For me, I’m also excited to have Emelyn around other children. Being at home this past year has given her the much needed one-on-one attention necessary to gain many new gross motor skills, not to mention some much needed weight. But now it’s time to work on her socialization skills too. While she always scores fairly high on the social/emotional developmental scales, she could definitely benefit from being around other children her age. 

2015 brought many exciting achievements for Emelyn. In the motor skill area, sitting independently without the fear she may topple over, manipulating objects with her hands in a much more meaningful way, transitioning from her belly to a sitting position, crawling on hands and knees/shins, pulling to stand, and even a little cruising on furniture were new for 2015. She’s also increased her receptive language skills, as well as, added a couple of inches of height and about six extra pounds of weight.  What will 2016 bring? While it’s hard to say exactly, we are very optimistic Emelyn’s next great adventure will bring more achievements for our curious little peanut in 2016. Merry Christmas and Happy New Year!