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!
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:
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.
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.
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.
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...
Confession: This blog exists for many reasons and one of those reasons isn’t all that altruistic.
Here are the five reasons this blog exists:
Reason #1: I want to be a resource for families. When we received Emelyn’s diagnosis in September of 2015 there was only one medical journal about mutations in the DDX3X gene and their link to developmental delays and intellectual disabilities. There was no website, no foundation, no video, no brochure...nothing! This blog was my way of giving DDX3X a real spot on the world wide web for folks to learn about DDX3X.
Reason #2: Writing is a form of therapy for me. Each blog post allows me to unpack the latest Emelyn happenings, be it joyful or challenging, in a deeply reflective way. While writing does not possess this kind of therapeutic power for everyone, it certainly does for me.
Reason #3: Language matters. I’ve developed a love of language over the last few years and it’s important for me to put thought and intention into how I frame up Emelyn’s strengths and weaknesses. I never want to speak about Emelyn in a way that evokes pity or paints an unrealistic picture. This is especially important for families who just received their child’s diagnosis. I want them to leave my blog with hope for their daughter.
Reason #4: Emelyn has a fan club made up of family, friends, church members, co-workers, friends of friends, doctors, therapists, researchers, teachers, and even perfect strangers. These are the people who love and pray for Emelyn, donate money to the DDX3X Foundation in honor of Emelyn, fight insurance companies and school systems on behalf of Emelyn, and cheer for Emelyn at each and every accomplishment. Because of the love from these folks, it’s important to me that I keep folks informed of how Emelyn’s doing.
Reason #5: Lastly, and here is where the confession comes in, this whole blog thing was a course requirement. Yes, that’s right, I had to do it! In early September of 2015, as I sat in my fourth course for my masters degree, I was informed by Dr. Ken Nicely that one of the course requirements was to start a blog. Seriously! What the heck was I going to start a blog on? Couldn’t I just write a paper or take a test. Then, as divine destiny would have it, just a few days later came the call from our genetics counselor with Emelyn's DDX3X diagnosis. It was that sequence of events that led to this blog.
While that course ended in December of 2015, the blog has lived on. No longer is this blog a four-credit course requirement for graduation—instead it’s a labor of love to share Emelyn’s story with you and to raise awareness about DDX3X.
It’s not always easy to keep current on the blog—for me as the writer and for you as the reader. We live busy lives. Some days I grow weary of writing. Between work, school, and volunteer work I have far more screen time that I’d like, but today I had confirmation that this blog matters. A mom from Australia was doing what every mom does when you have an undiagnosed child and desperately needs answers—she turned to the internet. This particular mom found this blog and saw her daughter in the words and photos of Emelyn. She visited DDX3X.org to further her research. With her momma-gut guiding her, she consulted her daughter’s doctor and requested they look for a change in her daughter's DDX3X gene. Turns out, her momma-guy was right. Her daughter has a mutation in her DDX3X gene. Not only did this blog get me an A back in 2015, it got a family answers and direction.
So here is where I’m going to get a little sappy in you. Do you ever feel like God has a plan for you? I certainly do. He knew good and well that I wasn’t going to start a blog on my own—He (through Dr. Nicely at Hollins University) had to make it a course requirement to get me started. And because of that course requirement I’m helping others get answers to the questions they have about their child.
So, there you have it, I’ve confessed my intentions and I have to say, I’m proud of this little venture. And I’m proud of you, my faithful readers, for sticking with me. Your support means so much to our family.
(I leave you with the following video of Emelyn sporting her new helmet and walking like a champ.)
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.
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.
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
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.
