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.

Advancing research

In Chicago we heard from UCSF neurologist Dr. Sherr, Franklin & Marshall College neuroscientist Dr. Jinks, and University of Queensland neuroscientist Dr. Richards about their research around our daughters’ DDX3X mutation. While each of these researchers, along with their wicked smart student researchers, are approaching their research in different ways, they’re all collaborating and sharing information. I wish I could explain exactly what each one of these teams are working on, but I’ll be really honest and say tenth grade biology was more than 18 years ago and much of what they talked about went way over my head.

Dr. Jinks came over and chatted with Patrick, Emelyn, and I
about his research prior to his presentation. 

Here is what I can tell you though, the ultimate goals of the research over the next few years are:

(1)    Understand the biology of the condition

(2)    Test whether we can (and by how much) improve the condition with post-natal intervention

(3)    Develop drugs or other approaches to treat the condition

To achieve these goals, these researchers and their teams will need to create a mouse model where the mice are bread with the DDX3X mutation. The researchers will then attempt to answer questions like…Can the DDX3X mutated gene be replaced with a non-mutated DDX3X gene to essentially reverse the condition? Is the DDX3X mutated gene too active, not active enough, or inappropriately active? Are there other similar gene mutations that can guide their DDX3X research or can efforts be combined? Just to name a few.

Currently, the researchers are working off some existing funding, but their funds are very limited. To create the mouse model will require new funding. We’re looking at needing to raise around $225,000 to fund the next two years of research. While grants may be an option, the best chance at making this research happen comes from us—the moms, dads, families, and friends of our DDX3X girls.

We’ve been told by the researchers that the DDX3X families are some of the most active and engaged families they’ve come across. This condition is so newly discovered, yet we already have an extremely active private Facebook group, a website (ddx3x.org), and a foundation (The DDX3X Foundation Fund). According to Global Genes, approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease. To say we are blessed to be a part of this very special group would be an understatement!

Along our journey, so many people have asked how they can help support us. If you’re one of those people and in a position to help, here are a few ways you can support the effort:

• Give a little, get a lot! Our sweet, kind Aubrey has also been asking, “How can I help my sister and her friends?” This summer she’s on a mission. We’ve ordered DDX3X wristbands to help Aubrey with her fundraising efforts. She’s asking for a minimum donation of $5. Since our family paid for the wristbands, 100% of the funds Aubrey raises will go straight to the DDX3X Foundation Fund. Her goal is to raise $1,000 before school goes back in September. Maybe even better than the wristband, is that each donation also gets you a picture of Emelyn and Aubrey from their latest photo session.
• Make it tax deductible! If you’re interested in making a tax deductible gift, you have two options. Since the DDX3X Foundation Fund is a 501(c)3 non-profit, your donation is tax deductible. You can donate directly on the www.DDX3X.org site, just click on the Donate button in the top right corner to make a donation to The DDX3X Foundation Fund. Or you can give (or mail) Aubrey a check, made payable to The Delaware Community Foundation with DDX3X Foundation in the memo line. If you need our new address (we moved in March), please email me. I’ll submit all the checks in one batch once we have several and The Delaware Community Foundation will send you out a tax letter acknowledging your donation. And Aubrey will gladly send you’re a DDX3X wristband and photo of her and her sister.

Aubrey's assembling bags with a DDX3X wristband
and a picture of Emelyn and her.

Many of the families are banding together to raise funds and we’re excited to be doing our part. I’ll be sure to update you on our fundraising efforts. And as we learn more from the researchers, I’ll be sure to share. Until then, I’ll be brushing up on my biology.

Chicago

It’s a ten hour drive from southwest Virginia to Chicago, IL. We left in the early hours of Saturday morning to get a jump start on driving and quickly found ourselves second guessing that decision, and maybe even the decision to drive instead of fly. Despite being the second week of April, the roads were awful. Every bridge was iced over and the further we drove the more the temperature dropped. Within our first 30 miles we passed two wrecks, both on bridges. By the time we hit West Virginia, a place I’ve spent very little time in the past, I was struck by several things. First, what happened to spring? It was clearly still the dead of winter there. And second, why do they have so many bridges? Every single one with an anxiety-invoking “bridges ICE before roads” sign. After three white-knuckle hours on the “wild and wonderful” bridges of West Virginia, we hit Ohio, which brought the return of spring, far fewer bridges, and naps for Emelyn and me.

Welcome to spring in West Virginia.

Indiana was probably our favorite state. The wind turbine farm on I-65 was fascinating. Emelyn, who loves a good ceiling fan, was enamored with the giant twirling objects that appeared out of nowhere and stretched across the Indiana plains for miles (there are 303 total according to Wikipedia). We’re considering one for the next house, though I’m sure the HOA will say otherwise.

Hitting the Illinois state line signaled the end of the journey, because you’re basically in Chicago at that point. Patrick and I were amazed. While Emelyn’s typically a good traveler, we still anticipated her to grow tired of riding in her car seat playing with the same few toys for hours, but we were pleasantly surprised. Emelyn had not fussed or cried the entire day. As long as she was moving, she was content. The traffic in Chicago, while light because it was a Saturday, caused a few discontent sounds in the backseat, but still no tears. West Virginia aside, it was an uneventful and pleasant drive.

The Chicago skyline.

To fully explain our Chicago experience – what we learned, the conversations we had, the connections we made, I will need to spend hours upon hours typing. And to be honest, we still haven’t fully digested it all. So, my plan is to tackle Chicago in several posts. That will be more manageable for me, and much more digestible for you. I’ll plan to cover everything from sensory processing disorder and ABA therapy to research studies and knockout mice to the naming conventions of newly discovered genetic disorders and everything in between.

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

Our expectations for Chicago were fairly ambiguous. We knew we’d have the opportunity to meet other young ladies with Emelyn’s same diagnosis and their families, hear from educational, medical, and research professionals working directly with those affected with the DDX3X gene mutation, and, of course, eat some Chicago-style deep dish pizza. Chicago certainly met these expectations and more. Yes, it brought us connections, information, and obnoxious amounts of cheese, but most of all, it brought us hope. We left Chicago with a deep sense of hopefulness for Emelyn and for all the young ladies who have an extra special DDX3X gene.

It was as good as it looks!