Nonverbal...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.

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.

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).

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.

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 Brown Bear, Brown Bear 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.

A recent text message from Emelyn's
physical therapist—they've been together
for six years. There is nothing but love between
them!

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!

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.

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.

Find your tribe!

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 The Mighty, or read it below. 

Finding Our Tribe Has Made All the Difference as We Navigate Our Daughter's Disability

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.

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.

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.

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.

 

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.

Let me share how receiving our diagnosis has changed our family:

1. The self-doubt halted.

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.

2. Our treatment plan has changed.

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.

3. You become the expert.

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.

4. Our tribe has mobilized.

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.

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.

ABA…it may not be what you think it is

If 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.

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.

Emelyn sporting her Halloween shirt
from her ABA clinic.

One of the first things our ABA team taught us was that all behaviors are caused by one of four reasons:

1. To gain attention.
2. To access a desired object/activity.
3. To avoid an undesired object/activity.
4. To fulfill a sensory need. 

I’ll go in reverse order to address these reasons for behaviors and give a quick Emelyn example:

#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.

Emelyn and Hattie getting a little sensory input with cooking spoons.

#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.

#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.

Emelyn and Hattie can often be found pulling
books out of Emelyn's book bin.

#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.

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.

We teach extended family ABA principles to
help them better understand how to react
(or not react) to Emelyn's behaviors.

   
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:

• 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. 
• 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.

How do I know ABA isn't just for kids
with autism? Because we apply these same
principles to our typically developing
kiddos.

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.

People are a great motivator for Emelyn and
that includes her baby sister, Hattie.

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.

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.