Thursday, November 23, 2017

What we learned at the San Diego family conference

On November 2, Patrick, Aubrey, Emelyn and I boarded a plane to San Diego where we spent four days with nearly 30 other DDX3X families. There are two reasons we make the trip to these family weekends. First, we have the chance to spend time with families who get what it’s like to have a daughter with DDX3X. They understand the struggles and the joys. We learn from them and they learn from us. We share a powerful connection and it’s important to nurture that bond. Secondly, we get to hear from medical professionals who are actively researching the DDX3X mutations. At the bottom of this post, I’m including bios for the medical professionals who were in attendance at our San Diego family day.

Sisters enjoying the world at 25,000 feet.
The first three days were filled with fun family activities…Sea World, music therapy, swimming, and more. 




The final day was the family conference. (Check out this article from the San Diego Tribune about our DDX3X family day.) It was packed with so much great information from the medical team that it’s taken me nearly two weeks to distill it all down into the following key points:

DDX3X Foundation dollars are already advancing our understanding of the DDX3X gene…

Pediatric Neurologist Elliott Sherr, MD, PhD at the University of California, San Francisco is heading up research to better understand the function of the DDX3X gene—what does it do in its normal, non-mutated form and what happens to its function when it mutates? The funds raised are paying for the scientists who are exclusively studying DDX3X at Dr. Sherr’s lab. Additionally, the funds have enabled the creation of a mouse model. (And if you’re a science geek, then you’ll be excited to know that CRISPR technology was used to create the mouse model.)

Dr. Sherr and his research team have already made a number of significant advances in the short time they have been working on DDX3X. Nearly 70 children, including Emelyn, have enrolled in a study where we shared MRI scans, genetic information, saliva samples, and developmental data. From that information, Dr. Sherr and his team have tabulated the data and made several observations so far:

MRI scans show a small/thin corpus callosum (this is the band of nerve fibers joining the two sides of the brain), a smaller cingulum bundle (this is the nerve cell highway), and, in about a quarter of the girls, abnormally folded brain tissue known as polymicrogyria or PMG.

Emelyn does not have PMG but does have a “diffusely thin corpus callosum,” as well as a “small and deficient dorsal cingulum bundle” (dorsal means back) and “missing ventral cingulum bundle” (ventral means front). She also has a small, underdeveloped hippocampus.

The type and location of the mutation on the DDX3X gene appear to correlate to the individual’s level of function. There are four types of mutations that can happen: missense, nonsense, frameshift, and splicing. These mutation types can happen at various places on the DDX3X gene. It appears that about 90% of mutations happen inside the helicase, which is on the last two-thirds of the gene.

Emelyn’s mutation is a frameshift mutation occurring at Isoleucine 214, changing what should have been an amino acid to a threonine residue, creating a premature stop codon at position 7 of the new reading frame, i.e. p. Ile214ThrfsX7. What does all that mean? It means this “spelling error” causes a loss of normal protein function. From what I can tell (keep in mind my last biology class was in tenth grade), Emelyn’s mutation, at Isoleucine 214, happens about a third of the way into the sequence causing the protein to be more altered than someone with a mutation further down the sequence.

Why, oh why, didn't I pay better attention in high school biology.
Additionally, Dr. Sherr and his team are studying both normal DDX3X genes and mutated DDX3X genes in a test tube model in order to better understand how a normal DDX3X protein functions. So far they have learned that a normal DDX3X gene unwinds quickly, whereas a mutated DDX3X gene unwinds at a slower pace. In other words, the mutated DDX3X gene does not function at 100% like a normal DDX3X gene. When the time comes, the model used to study function can be adapted to use drug screening technology to test hundreds or even thousands of candidate drugs in a single day.

Dr. Sherr is confident that his team can dramatically accelerate their efforts, continue to make significant advances, and move closer to a viable treatment for girls with DDX3X. However, in order to keep him and his team going, we have to keep funding coming.

The next step is to create stem cell lines to better understand how normal DDX3X functions to maintain cell health. Then, develop an understanding of how specific mutations in DDX3X affect how that cell functions. Emelyn and I had blood drawn in California for this process, as did a few other mother/daughter pairs. Stem cell lines will be made from our blood to advance understanding of both normal DDX3X and mutated DDX3X.

Additionally, a mouse model is already in the initial stages as mentioned above. The model will be genetically engineered to address two key biological questions:
  • Can the mouse model (with the same mutations as our girls) show similar physiological and cognitive challenges as girls with a DDX3X mutation?
  • If a mouse is born with a DDX3X mutation, can the team genetically engineer the mouse after birth to a mouse without a DDX3X mutation? This will help the team understand whether fixing the biology of DDX3X after birth can lead to a better or even normal developmental outcome.
Not only are our DDX3X girls rare, so are DDX3X parents…

The DDX3X Foundation was created in 2016 by two DDX3X moms, Beth and Liz. They are working moms who have taken on the role of co-presidents of the DDX3X Foundation as a volunteer gig. Beth’s daughter was the first person diagnosed with DDX3X. She is our connection to Karlla (see below). Liz’s daughter was also diagnosed shortly after the discovery of DDX3X. She is our connection to Dr. Sherr. These two moms, plus a team of other moms and dads (including our family), are fully vested in raising awareness for DDX3X and continuing to fund the research being led by Dr. Sherr’s team.

DDX3X moms and dads united with researchers to help
our gives live the richest lives possible.
Over the past year, our DDX3X family group has fundraised to provide Dr. Sherr and his team approximately $115,000. We need an additional $60,000 before December 31, 2017, to keep devoted scientists working on DDX3X. In 2018, we’ll need another $120,000. Dr. Sherr and his team are working to publish a peer-reviewed paper detailing what he and his team have learned about DDX3X so far. The hope is that the paper, which is about a year from publication, will garner attention from the National Institute of Health (NIH) to help accelerate our funding stream because advancing this to the level of a viable treatment will require $1 to $2 million dollars a year in the very near future. Until then, it’s up to the DDX3X parents to reach out to our networks to raise the funds.

You can help us get there…

Will you consider a donation to the DDX3X Foundation to advance research? You won’t just be helping Emelyn, you’ll be helping the approximately 160 diagnosed girls, plus the nearly 15,000 estimated undiagnosed girls who likely have DDX3X. And cracking the code on DDX3X will open doors to treating other rare diseases as well. The impact of this research is far-reaching. Contributions are coordinated through the Delaware Community Foundation and are tax-deductible. You can make a donation online at delcf.org/donations/ddx3x or you can mail a check, made payable to the Delaware Community Foundation, to PO Box 1636, Wilmington, DE 19899 (don't forget to put DDX3X Fund in the memo line).

Dr. Sherr was humble in his gratitude for our support,
both financially and through our participation in the ongoing
DDX3X study.
Thank you for your support along our journey…

I’m grateful you just spent the last 15 minutes reading this mammoth post that likely taxed your brain. But more than that, I’m grateful you love and care for our sweet Emelyn. It means more than you will ever know to have you on our journey.

I can't explain it, but every time I fly I crave Chinese food.
Immediately after the conference we headed to the airport
and had Chinese, of course. When I opened Emelyn's
fortune cookie it was empty. I'm still philosophizing about
the meaning of her empty cookie, but it gave me tingles
about her future.


Dr. Sherr and his team:
Elliott Sherr, MD, PhD is a professor in neurology and pediatrics at the Institute of Human Genetics and the Weill Institute of Neurosciences at the University of California, San Francisco (UCSF). He co-directs the Comprehensive Center for Brain Development at UCSF. In this capacity, he cares for children with neurodevelopmental disorders, including autism, intellectual disability, and epilepsy. In addition, he directs the Brain Development Research Program, a group that studies the genetics and biology of autism, and other disorders of neurodevelopment. The lab uses gene discovery to understand how disruption in brain development may lead to cognitive and behavioral impairments and they leverage these models as a basis for developing novel therapeutics. Dr. Sherr’s specific areas of interest include the development of proteomic biomarkers to enable early detection and treatment for autism, and the study of a newly recognized common cause of developmental delay in girls, the gene DDX3X. His lab has directed a large multisite brain imaging study that is helping to connect changes in brain structure and function to the clinical deficits observed in autism (Simons VIP). Dr. Sherr is also a member of a large epilepsy genetics consortium (Epi4k), for which he led a team that advanced our understanding of the genetic causes of severe childhood epilepsies. For his research, Dr. Sherr was the 2006 recipient of the Philip R. Dodge Young Investigator Award from the Child Neurology Society.

Dr. Sherr is a native of California and completed his undergraduate degree in philosophy and biology at Stanford University. He obtained his M.D. and Ph.D. at Columbia University in New York and completed his clinical training in pediatrics and neurology at UCSF. He lives in San Francisco with his wife, a biotechnology finance executive, and their three children.

On this particular trip our family had the opportunity to sit down with Dr. Sherr as well. He met with nearly every family there on Saturday on at a time. We were his first appointment at 9 am and ten hours later he was still meeting with families. Beyond the MD and the PhD, I have to tell you, he is an incredibly kind and personable man. He clearly cares deeply about each and every one of our girls. We were thrilled to meet with him and ask him some of our specific “Emelyn” questions

Thanks to our funding, Dr. Sherr has the following wicked smart individuals working with him on the DDX3X mutation:

Bethany Johnson-Kerner, MD, PhD is an Alpha Omega Alpha honors graduate from the College of Physicians and Surgeons of Columbia University, where she also completed her Ph.D. in neuroscience. She is currently completing her clinical training in pediatrics and neurology at UCSF. For her Ph.D. thesis project at Columbia, she generated induced pluripotent stem cells (IPS cells) from patients who had a disorder of peripheral nerves that control muscle function, called giant axonal neuropathy. She used advanced laboratory techniques to make those stem cells into nerve cells, studying both healthy cells and cells from patients. She also showed that she could restore normal function to patient-derived nerve cells by putting back the normal gene.
Dr. Johnson-Kerner will be creating stem cell lines to better understand how normal DDX3X functions to maintain cell health, then she will study how specific mutations in DDX3X affect how that cell functions.

Ruiji Jiang, MD, PhD is a dual doctoral student (physician-scientist) completing his thesis work in Dr. Sherr’s lab. Dr. Jiang will be working with Dr. Li to develop a method to screen for drugs that could repair the function of DDX3X in cultured cells.

Lindsey Suit, a Berkeley undergraduate, will be completing her honors thesis on the spectrum of clinical challenges faced by girls with mutations in DDX3X.

Brieana Fregeau is the research coordinator for the Department of Neurology at UCSF and Brain Development Research Program. I don’t have a full bio on Brieana, but I get the feeling she’s the grease that keeps this super smart team running smoothly.

There is an extra special, and also wicked smart, member of our DDX3X tribe who is vested in each and every one of our girls:

Karlla W. Brigatti, MS LCGC joined the Clinic for Special Children as its first genetic counselor in 2014, bringing extensive experience in clinical genetics and research from across the lifespan. She earned her Bachelor of Science in Cell and Molecular Biology from the University of Pittsburgh in 1994 magna cum laude and her Master of Science in Human Genetics from Sarah Lawrence College in 1998. Prior to joining the Clinic for Special Children, she was the senior coordinator of the FASTER Trial at Columbia University, the largest NIH-funded trial in Obstetrics and Gynecology to date, and later the founding coordinator for the Center for Prenatal Pediatrics at Columbia University, introducing multidisciplinary and state-of-the-art innovation to the care of highly complex pregnancies before and after delivery. After moving to the Lancaster area in 2006, she served as senior genetic counselor in clinical genetics, pediatric oncology, and neurology at the Children’s Hospital of Philadelphia (CHOP), working with families from across the globe for over five years in the Friedreich Ataxia Center of Excellence at CHOP on various natural history and clinical drug trials for the condition. She has authored over 20 lay and scientific publications, mentored undergraduate, graduate, and medical students, and served on the Human Genetics Faculty at Sarah Lawrence College. She is currently completing a one-year program in Rare Disease Clinical Research Training through the National Institutes of Health. In addition, she currently serves on the Board of the CROWN Foundation, promoting research in women’s and newborn health. Her research interests include gene discovery, implementation of personalized medicine, and rare disease advocacy. She is certified by the American Board of Medical Genetics and is a member of the National Society of Genetic Counselors. Karlla feels this experience has enriched and prepared her for her work at the Clinic for Special Children. She promotes the partnership between clinical care and innovative research to improve the lives of those with genetic conditions. That trust and mutual investment with the community is a key element to the Clinic’s longtime success in advancing Genomic Medicine. (I might add, this also makes Karlla an incredibly valuable member of our DDX3X tribe!)

In order to be, as Karlla put it, “clinical trial ready” Nicholas Bascou and Deanna Steele from the Program for the Study of Neurodevelopment in Rare Disorders (NDRD) at Children’s Hospital of Pittsburgh of UPMC were also in attendance on behalf of Dr. Escolar:

Maria Escolar, MD, MS is a graduate of the Escuela Colombiana de Medicina. She has a Master of Science in Human Nutrition from Columbia University and completed a residency in general pediatrics and fellowship in child development and behavior at Cornell University Medical Center in 1995. Dr. Escolar is board-certified in neurodevelopmental disabilities. She has 15 years of experience as a practicing clinician and researcher. Dr. Escolar has authored multiple original manuscripts, including two New England Journal of Medicine articles. She is nationally and internationally known for her work in neurodevelopment of children with leukodystrophies and mucopolysaccharidosis. Her research focuses on behavioral and neuroimaging outcome measurements.

NDRD was established in 2002 because of the need of help children and their families understand the overall impact of rare neurological diseases on child development. Our family is considering traveling to Children’s Hospital of Pittsburgh of UPMC to take part in a natural history study, but that’s a whole other blog post, so stay tuned.

There are other important members of the DDX3X medical team as well, but these are the folks we had the opportunity to hear from in San Diego.  

Sunday, November 19, 2017

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.

Thursday, November 9, 2017

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.

Thursday, July 13, 2017

It takes a village

One year ago today Emelyn started attending ABC’s of ABA. Over the course of this past year, we’ve seen tremendous growth and development. Here are the notable areas we’ve seen:

Self-feeding: Emelyn can feed herself with her fingers, as well as using utensils. It’s not always pretty, but she certainly is proud of herself.

"You want me to use my fingers. I don't think so,
I'm way too sophisticated for that."
Communication: Emelyn still doesn’t have words, but she’s on her way to using an iPad to communicate her needs. She’s also using sign language to say “all done” and “more.” Words may be in her future as her speech therapist is encouraged by the “m” sounds she’s been making.

Walking: Emelyn still requires support, either with a walker, gait trainer, or hand-holding, to walk, but we can honestly say she’s closer than ever to walking independently. When Emelyn started at ABC’s we were lucky to get more than a few steps out of her without her plopping down in protest. ABC’s walks her every single day and collaborates with her physical therapist to be sure they’re using the right techniques to promote independence. Just this week Emelyn has started trying to take steps on her own. We’ve only seen two or so steps at a time, but the fact that she’s wanting to do it is extremely encouraging because what Emelyn wants, Emelyn does.

Watch out, this girl is on a mission.
Fine motor: Emelyn just recently started clapping her hands. She’s also getting the hang of pointing using her index finger. While still inconsistent, she can wave when she wants to as well.

Receptive language: Emelyn’s vocabulary of words she understands has grown tremendously. She’s even following some two-step instructions. She points to our nose, mouth, eyes, ears, and chin. I’m convinced she understands even more than we realize.

Engagement/eye contact: We constantly hear from folks, “I can’t get over how much progress Emelyn is making.” Usually what folks are referring to isn’t her improved mobility or receptive language, it’s her ability to interact with the world. Truly, she’s a completely different child this July versus last July. I remember going to a restaurant with friends last summer and Emelyn stared off into the ceiling mesmerized by the ceiling fans. Despite attempts to get her attention, she remained locked in her own world just staring. This was a frequent occurrence, but not anymore. When we attend church, Emelyn engages with those around us. She holds hands, smiles and giggles, makes eye contact, and responds to her name. Now if we could just get her to refrain from giggling through the prayers.

Head control: A year ago it was not uncommon to see Emelyn’s head fall back several times a minute. This is a major challenge to getting her walking. However, her head control has increased drastically this past year, likely due to her increased walking at ABC’s. As her head control improves, so too does her ability to keep her balance. She still has progress to make before her balance will be at a place where walking is possible, but she’s closer than ever.

Finger chewing: Emelyn, like many of the other DDX3X gals, is a finger chewer. It’s mainly a sensory issue. When Emelyn started at ABC’s we were using a “no-no” which is a brace that prevents her from bending her arm at the elbow. This was an effective way of keeping her finger out of her mouth, but it wasn’t ideal for developing motor skills, especially fine motor skills. We’ve started noticing over the past six months a significant decrease in her finger chewing. In fact, it’s been months since she’s worn her no-no. We do occasionally see an increase in finger chewing, but she’s now easily redirected to other tasks as opposed to mindlessly chewing her finger.

One redirect we've found for finger chewing
is to hand Emelyn a car with wheels she can spin.
Sensory issues: In addition to the decline in finger chewing, we’ve also seen an increase in Emelyn’s tolerance for having her teeth brushed. What used to be a battle is now a fairly effortless task. This was especially helpful when Emelyn went to the dentist for the first time back in January and again yesterday. She was extremely cooperative. Emelyn’s also a teeth grinder and that’s another area we’ve seen decrease tremendously. It’s almost rare for her to grind her teeth now.

Potty training: A year ago I would have never dreamed Emelyn would be in the potty training process, but sure enough, she’s successfully using the potty several times a day. We still have a long road ahead of us, but we’re on the road and that’s pretty exciting.

A proper dismount: Just a few months ago when Emelyn wanted to get off the bed or couch, she just went for it, often head first. There was no consideration for how she went about dismounting, she just went. We’re now seeing her very intentionally turn herself around to go feet first off of furniture and her bed. While it’s a physical skill to execute, it’s a cognitive skill to plan and we think the combination is a pretty big deal.

This is Emelyn's morning sleepyhead look.

Attention span and tantrums: With Emelyn’s new awareness of the world around her we’ve also noticed her attention span has increased. This has helped with tantrums and other escape behaviors. It’s not to say we don’t still have some outbursts, but to some extent, those are to be expected with a non-verbal child. In general, she’s just a happier kid.

Being a sister: This one is probably the greatest of all. Before starting at ABC’s Emelyn paid very little attention to Aubrey. Every so often she might acknowledge Aubrey, but it was inconsistent at best. It was especially hard to watch Aubrey try to engage Emelyn and get little to no reaction. That has completely changed. Emelyn watches Aubrey, laughs at Aubrey, and even plays with Aubrey. With the addition of Hattie, we’ve seen Emelyn quickly form a bond with her new baby sister too. I know this new connection will likely bring on sibling rivalry in the future, but that’s a welcome result of sibling engagement.






It’s been an eye-opening experience reflecting on this past year. We are beyond grateful to ABC’s for believing in our little Emmy. They know she’s far more capable than any assessment or test shows. They see her potential even when we can’t. We’re eagerly anticipating what Emelyn will accomplish in her next year with the loving and caring folks at ABC’s. We’re also so very grateful to the care providers, therapists, grandparents, and others who work with Emelyn on all these new and emerging skills. It’s super cliché, but it seriously takes a village.

One happy middle child.

Wednesday, March 1, 2017

Dear Rare & Beautiful Emelyn

Today, on Rare Disease Day, we celebrate you. With your contagious giggles and larger than life smiles, you bring joy to every person you meet. You do not know your own challenges…you only know your own determination. It’s a determination that motivates us to see blessings where others see mistakes. Science may call it a spelling error, but we know better. We know God doesn’t make mistakes. He knew what he was doing when he spelled your DDX3X gene just a little different. Whether you know it or not, you are on a path to teach our family the true meaning of patience, faith, and hope. You are beautiful and perfect in every way. We are so very blessed to have you as part of our family.

To learn more about DDX3X, meet other little girls with an extra special DDX3X gene, or to donate to research to find treatments for Emelyn and other children with DDX3X, visit DDX3X.org.

Monday, December 5, 2016

Reflecting on 2016

Everyone I talk to tells me the same thing, “2016 has been such a busy year.” Our family is right there with you. And for that reason you’ll have to excuse my lack of posts this year. While it’s been hard to take the time to create posts, we have found time to be very grateful for our family, especially our sweet Emelyn. Here are just a few things we’ll be giving thanks for as we reflect on Emelyn in 2016:

School: Emelyn continues to make tremendous progress at her new school where she has been since July. I can’t tell you how grateful we are to have found this school. The goals they are working towards each day are truly meaningful to Emelyn’s development and independence. For example, Emelyn is more willing than ever to walk with support, likely because her goals at school include walking in her gait trainer three times a day for seven minutes each time. Once she becomes more stable, which will come with practice, she’ll be walking more independently in the near future. We’ve also seen Emelyn’s ability to feed herself, follow instructions, and make meaningful contact with the world around her improve as a result of the goals they are working towards at her school.



Care team: I joke regularly that Emelyn has an entourage. She has therapists, teachers, care providers, doctors, case workers, and more. Each one of them love and adore her and are constantly plotting with us to be sure we’re doing the best to help her progress towards independence. When Emelyn switched schools her old care provider, Jean, had to find a new position that offered full-time hours. While we were sad to see her go, we were grateful we’ve been able to keep a close relationship with Jean. They now see each other weekly and get to hang out on the weekends about twice a month. It took us a long time to find Jean, but to our surprise finding her replacement was oddly simple. Patience began with us in August and had worked with Emelyn in the infant room at the daycare she went to before it became clear daycare wasn’t a good fit for Emelyn. They’ve picked up right where they left off and buzz around town from school to PT, OT, speech, hippotheraphy, and swim therapy. We’re grateful to have such incredible people as part of “Team Emmy.”

Health: For some children with DDX3X there are sometimes significant health issues that come along with the diagnosis, including seizures, heart problems, eye issues, and more. We’re very grateful that these continue on our radar to look out for, but not a reality for Emelyn. This fall Emelyn had an inpatient EEG (known as an SMU) at UVA. She was a champ as you can see. She looked more like she was at the spa than having 20+ leads glued and then unglued from her head over the course of 24 hours. The test told us that while Emelyn’s brain waves are not typical, there are no signs of seizures. She also had an eye exam that raised no red flags.



Community: Just this weekend I had the opportunity to attend my work Christmas party for our foster parents, adoptive parents, and sponsored residential providers. I brought both girls with me and within minutes of walking in the door was approached by a woman who promptly greeted Emelyn by name. I had never met this woman in my life, but she knew Emelyn. Turns out one of her foster children attended hippotherapy at Healing Strides and she saw Emelyn each week. She asked if it was okay that she had added Emelyn to her church’s prayer list. I, of course, was more than grateful to her and her church for their prayers. And then it happened again, another woman, this time an adoptive parent, approached us. She said when her family walked in her son immediately said, “Look mom, it’s Emelyn!” They attend physical therapy together. In just two hours, with these two families, I was reminded that there is a community of people out there who love Emelyn and pray for her—people who we don’t even know. There are probably a few of you reading this blog right now who we do not know, but know we’re grateful that you are a part of Emelyn’s community.

Church: 2016 has brought a change for us on Sunday mornings. We were sporadic at best when it came to our church attendance, but this year we’ve made church a priority as a family. Just last week Emelyn was doing her normal chatting and giggling during the service, so Patrick got up with her to step outside. One of the church members, an usher that specific Sunday, told him, “Don’t you ever think she’s a bother to anyone. Everyone in this church loves that little girl.” And I truly believe that. There are countless couples and families at our church who cheer Emelyn on as she walks into church, but my favorite are the children who get the biggest thrill out of getting her to smile and giggle.  



Friends: This blog isn’t the only thing that’s been neglected this year. Between work, the girls, working on my masters, the pregnancy, building a house, and moving twice in one year, I haven’t been the best at keeping in touch. That being said, every time I do get a chance to catch up with friends the first topic of conversation is typically Emelyn. Both Patrick and I are grateful to our friends for asking about Emelyn and not growing bored of our constant talk of Emelyn and her progress.



Family: It truly takes a village to raise a child…with or without special needs. If it were not for our family we’d all be a bit frazzled in the Snead household. Our parents chip in to get our girls to and from school each day, watch them on weekends when we need to do school work or work on the house, and feed us when one of us is playing single parent on occasion. Our extended family is only a call away and ready to chip in too when our parents aren’t available.

Diagnosis: Receiving the DDX3X diagnosis for Emelyn last year connected us with so many other families who understand what it’s like to walk in our shoes. Twice this year we’ve had the opportunity to connect in person with some of these wonderful families. We traveled to Chicago back in April, then to Pennsylvania in October. We also did some fundraising this summer and raised $1,700 for the DDX3X Foundation to support research. If you were one of the folks who donated please know how grateful we are for your contribution.



Siblings: Yes, you read that correctly, that’s plural. Aubrey and Emelyn will welcome a new little brother or sister next month. Aubrey’s an amazing sister to Emelyn and we figured, why not add another super sibling to “Team Emmy.” Life in 2017 may get a little busier, but we’re grateful to fill our home with even more love.



As our family looks back at 2016 we’re grateful to have you as a part of our journey and as part of “Team Emmy.” Merry Christmas and Happy New Year!

Sunday, September 11, 2016

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.