What we learned at the Philadelphia family conference

Last month our family traveled to Philadelphia to take part in the 4th annual DDX3X conference. As I’ve written in previous posts, these conferences have multiple purposes, but for the sake of brevity, I’ll only highlight the research updates as it relates DDX3X in this post.

Twelve world-renowned scientists traveled from around the country to participate in the conference. On the first day, the researchers participated in a roundtable discussion to share their progress and consider ways to collaborate. The following day they presented their findings to approximately 35 DDX3X families from the US and Canada. Their presentations showcased the incredible progress they have made as well as mapping out the road ahead. 

The chief researchers, the Sherr Lab at UCSF, led by Dr. Elliot Sherr, continue their work to understand the basic science behind how mutations of the DDX3X gene impact brain development and function. Their work with induced pluripotent stem cells has led to a greater understanding of the expression of the DDX3X gene and its function in the development of the brain. The Sherr Lab has also enrolled over 80 DDX3X individuals in their study examining the individual’s clinical presentation and how it correlates to that individual’s unique mutation. They are also working to develop a “knock-in” mouse to examine how missense mutations affect brain development in the mouse model.

Emelyn befriended Ruiji Jiang, a graduate student in Dr.
Sherr's lab, in hopes of having a few clicks on his laptop. 

The Sherr Lab recently collaborated with Dr. Debby Silver and members of the Silver Lab from Duke University in a study entitled Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development. This paper will be published next year. Dr. Silver also came to Philadelphia and discussed her lab’s multi-pronged approach to thinking about mechanisms of disease produced by the DDX3X mutation. In particular, her lab is interested in prenatal brain development and is using a mouse model to understand neural generation and proper neural migration. 

Mariah Hoye, a fellow and postdoctoral research associate
from Duke Institute for Brain Sciences, and Emelyn hit it off.
Mariah shared her experience at the conference in this article. 

The Seaver Center at Mount Sinai has identified DDX3X as one of its top research priorities and has a new lab, led by Dr. Silvia De Rubeis, which is dedicated to the study of DDX3X. The lab has developed a DDX3X mouse model and is currently undertaking research on the mice to better understand the impact of the mutation on social, cognitive, sensory, and brain tissue development. Additionally, Mount Sinai is also enrolling DDX3X patients in their clinical research program to better understand the clinical aspects of the gene mutation. Mount Sinai hopes to combine the findings of these studies to identify potential therapeutics that may be ultimately brought to clinical trial.

Dr. Maria Escolar, Director of the Program for the Study of Neurodevelopment in Rare Disorders at the University of Pittsburgh, continues to enroll families in her DDX3X natural history study. These detailed studies provide information on the course of the disorder as the children develop over time with the ultimate goal of creating a well-defined benchmark and an appropriately designed clinical trial once a therapeutic is identified. Currently, Dr. Escolar and her team have ten children enrolled in her study and continue to recruit new patients. 

Dr. Sanchita Bhatnagar from the Neuroscience Department at the University of Virginia, attended and detailed her previous work on X reactivation for Rett Syndrome. Dr. Bhatnagar is extending this research to look at ways in which to induce the unaffected DDX3X gene in the second X chromosome to express itself.

We were thrilled to meet Dr. Bhatnagar from UVA. We plan
 to visit her on our next trip to UVA with Emelyn.

The DDX3X Foundation, which has no paid staff, has reached a critical point where we have an extraordinarily teams of researchers focused on curing this condition, but more funding is needed to expand resources. Because of the leadership of parents, 100% of all money raised goes directly towards research.

Our family is grateful to this incredible team of researchers and the parent leadership of the DDX3X Foundation for making the 4th annual conference a reality. Assembling twelve world-renowned scientists in a room together, plus coordinating food, hotel, and activities for 35 special needs families is no easy feat, but a group of dedicated parents, led by Beth Buccini and Liz Berger, made it happen.

Our family is doing our part—we have enrolled Emelyn in multiple DDX3X studies; we travel to DDX3X conferences to meet other families and researchers (often giving up our own vacations); we write (ok, I write, Patrick proofreads) website copy, blog entries, and even a thesis about DDX3X; we share in successes and heartbreak with other families as we raise children with similar challenges to Emelyn; and we raise money to further research.

We invite you to join us in our efforts by making a tax-deductible donation to the DDX3X Foundation in honor of Emelyn at ddx3x.org.

Our family thanks you in advance for your consideration!

Navigating the rough seas that come with advocating for your child

If you've ever sat through an IEP (individualized education plan) meeting, you've likely found yourself confused, determined, frustrated, curious, optimistic, pessimistic, and a hundred other competing emotions. And it's not just parents, I know educators who feel the same way in these meetings. None of our children, special needs or not, come with a road map. And when parents and educators sit down at the conference table for an IEP meeting, tensions about what's the best educational path are inevitable.

In 2015, when Emelyn was approaching three years old, we began the intake process for her IEP at our local school system. Despite my best research, I still felt unprepared, confused, and timid. Were we walking the correct path, with the correct people, with the correct goals? I had no idea, but January of 2016 came and we signed the IEP and sent Emelyn off to the local school system’s preschool special education program. 

Fast forward several months and it was clear our IEP was not a success. Emelyn was not making progress—if anything, we were seeing regression since her departure from early intervention. After several meetings we decided to pull her out of the school system and enroll her in an ABA-based clinic. (See my two other blog posts about our ABA experience: New diagnosis, new therapy, new opportunities and ABA, it may not be what you think it is.) 

ABA was an immediate success for Emelyn. Within weeks of starting she gained skills we thought were years in the making. And she began opening up to the world around her. I’m convinced, more than two years later, she would not be where she is at today without the wonderful people and solid plan at her ABA clinic. They love her and they push her to be the best Emmy she can be. But, her time at her phenomenal ABA clinic will come to an end in 2019. She will age out of their program and we will return to the school system to continue Emelyn’s educational journey. This time, though, I will be a different kind of advocate for Emelyn. I have experience and knowledge that I didn’t have last time.  

This time last year, as I approached my final essay for my master’s degree, I sat with my advisor, curious about how in the world I was going to find inspiration to fill approximately 50 pages with coherent and purposeful words. With a broad umbrella of leadership, my advisor asked me what I was curious about and what would be meaningful for me to research and write about. Without much hesitation I shared my frustrations with advocating for Emelyn in an educational setting—how I lacked confidence in the next best steps, how the relative newness of DDX3X meant there wasn’t much data, and how I wasn’t alone in these feelings. And an idea was born.

Before I could write a word, I needed data—there was a tremendous amount of informal data floating around our private DDX3X Facebook group, but I needed data suitable for a scholarly publication. Collecting data on human subjects requires involvement from the Institutional Review Board (IRB) and when you’re talking about a vulnerable population, they (understandably) make sure you follow all the rules. Their approval process took two months, an 18-page application, and a lengthy survey. Once I had the IRB seal of approval I started collecting data and researching relevant peer-reviewed journals. I probably could have researched the thing to the end of the internet, but luckily my advisor, the wise Abrina Schnurman Crook, Ph.D, reeled me in. At last, after months of writing, my final essay was off to the second reader and this is where I held my breath. The second reader and director of the MALS program at Hollins University is a well-respected, retired superintendent of schools, Lorraine Lange, Ed.D. Would she tear it apart or bless it?

To my pleasant surprise, my final essay received her blessing (with a few small changes, mainly to grammar because let's be honest, that's not my thing) and I had the last requirement for graduation complete. My master’s journey came to an end. I’m embarrassed to admit, that was more than eight months ago. From time to time I talk to different DDX3X parents and share the completed essay to help them on their educational journey, I just haven’t devoted the time to sit down and prepare a blog post dedicated to sharing it broadly. Shame on me. But, finally, without further delay, here it is:

Leadership Strategy Manual for Navigating Elementary School Services for Children with a DDX3X Genetic Mutation (Also available for download on Hollins Digital Commons.)

You’ll find I grouped the essay by barriers—barriers our children face as a result of their DDX3X mutation, barriers our children face in the school system, and barriers parents face as they advocate for their child during the educational journey.

Is the essay perfect? Most definitely not, but it’s a start. If you’re a parent wondering aimlessly on the educational journey, I hope its content will provide guidance and direction to you. That is its intent—to help you navigate the rough seas that come with advocating for your child.

Graduation day with Patrick and Aubrey.
It was a gorgeous day on the Hollins campus.