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.      

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.

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 

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!