A look back at 2018...another year of hope

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.

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.

I’d like to dedicate this blog post to some of Emelyn’s major accomplishments this past year:

Walking

Emelyn is officially a bona fide walking machine. There are several logical and not so logical things we’ve attributed to this major achievement:

1. 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.
2. 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.
3. 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.
4. Medication: 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!

Standing up without any assistance

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.

Language

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!

Emelyn also got a fabulous new haircut this year!
We were able to donate 12 inches to hair we share.

Playing with her sisters

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.

Emelyn placing her order at Aubrey's Cafe. 

Sunday school

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.

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.

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.

Get a picture of all three girls for the Christmas card...

...it will be easy they said...

...they lied.

It takes a village

One 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:

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.

"You want me to use my fingers. I don't think so,
I'm way too sophisticated for that."

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.

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.

Watch out, this girl is on a mission.

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.

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.

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.

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.

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.

One redirect we've found for finger chewing
is to hand Emelyn a car with wheels she can spin.

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.

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.

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.

This is Emelyn's morning sleepyhead look.

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.

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.

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.

One happy middle child.

Advancing research

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.

Dr. Jinks came over and chatted with Patrick, Emelyn, and I
about his research prior to his presentation. 

Here is what I can tell you though, the ultimate goals of the research over the next few years are:

(1)    Understand the biology of the condition

(2)    Test whether we can (and by how much) improve the condition with post-natal intervention

(3)    Develop drugs or other approaches to treat the condition

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.

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.

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!

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:

• 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.
• 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 www.DDX3X.org 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.

Aubrey's assembling bags with a DDX3X wristband
and a picture of Emelyn and her.

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.

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.

Worry

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.

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.  

Aubrey was super excited to get footie pajamas, but
even more excited when her sister got a matching pair.

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.

Most younger siblings look up to their
older siblings...in our house, it's Aubrey who
looks up to Emelyn.

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.