My kid doesn’t have sensory processing issues… or does she?

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?

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.

Bath time is one of Emelyn's very favorite times. She can
splash around long after the water turns cold.

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.

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 The Next Steps Academy 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.   

Emelyn's curled foot is a result of her immature sensory
system. It's proof that her infant reflexes are still intact. 

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.

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.

As you can see, Emelyn curls her fingers
around my finger just as an infant would.

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. 

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.

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 

Step-step, Emelyn

I've been long overdue with this post. Last month, Emelyn finally (after five months of waiting) has a gait trainer!

Emelyn cruising in her gait trainer out in the cul de sac.

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.

That giggle at the beginning…it’s just too much!

And those little legs in that bathing suit. Step-step, Emelyn.

 

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.

 

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…

What’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.

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. 

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.
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.
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.

Corpus Callosum

Elliott 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.

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.

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.

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.

Dr. Sherr isn’t just interested in the brain, he’s interested in the genes behind brain malformations as well. In a 2013 study, 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.

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.

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.

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.

Chicago

It’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.

Welcome to spring in West Virginia.

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.

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.

The Chicago skyline.

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.

The sights and sounds of Chicago were just
too much for Emelyn.

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.

It was as good as it looks!

Life is made more meaningful through connections

On 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.

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. 

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? 

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.