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.

Facial dysmorphisms = beautiful!

It was December 5, 2013 - Emelyn was nine months old. It was our first meeting with a developmental pediatrician. I had no idea what to expect, but our pediatrician had told us Dr. Pineda would be very warm and kind. After nearly two hour of questions and evaluations, Dr. Pineda closed her laptop and began sharing her thoughts with us. She was indeed warm and kind, but her words still stung. She wasn’t telling us anything we didn’t already know, and therefore, she was confirming our fears. Terms like significantly delayed, medically complex, movement disorder, a number of possible syndromes, and more came from her mouth. Then, at the end, she said something to the effect of, “And you’re going to see a term in the notes that says facial dysmorphisms and I want to explain. Emelyn is a beautiful child, but she does have facial features that could indicate a syndrome…something genetic in nature. I just don’t want you to see that and think the worst or that your child isn’t beautiful, because she is.” For days following the appointment I remember looking at Emelyn and seeing nothing more than a beautiful little girl. Yes, her ears are slightly asymmetrical and her forehead is a bit prominent, but I wouldn’t call them dysmorphic. That sounds so ugly – like she’s disfigured. I’m grateful, however, to Dr. Pineda for easing us into the term that day. To be honest, I didn’t think much about Emelyn’s facial features as we moved past those early appointments. Other doctors would note facial dysmorphisms in their notes and I wouldn’t dwell on it, it was their job to document their medical findings.

Then, on September 16 of this year, we laid eyes on the other girls with DDX3X for the very first time. Patrick and I both looked through the tiny thumbnail pictures in the study sent to us by the genetic counselor and were amazed at how many of the girls resembled Emelyn. Then, that night we connected with other families on Facebook and began seeing family portraits, candid shots, and school photos of the other girls sharing Emelyn’s diagnosis. While our girls do have similar facial features, they also share similar smiles, expressions, and laughs. Other parents post pictures frequently of their daughter’s and I see our Emelyn in their daughter’s faces. They’re all so very beautiful and their smiles are filled with the same happiness as our Emelyn. It’s nothing short of amazing. With permission from some of the DDX3X parents, I’m sharing some of the other young ladies also diagnosed with DDX3X below. I know you’ll agree, our daughter’s share beautiful faces and endearing smiles!

Lucy | 17 months old | California

Emelyn (right) | 2 years old | Virginia
Emelyn is pictured with her big sister Aubrey.

Hadley Mae | 2 years old | Texas

Mila | 3 years old | Illinois

Sparrow | 3 years old | Washington

Vivi | 4 years old | Alabama

Morgan | 4 years old | Texas

Peyton | 4 years old | Illinois

Harper | 5 years old | Arkansas

Ashlyn (left) | 6 years old | Texas
Ashlyn is pictured with her big brother Cameron.

Kate | 7 years old | Oklahoma

Taytum | 7 years old | Alabama

Lanie | 8 years old | South Dakota

Alex | 9 years old | England

Alayna (middle) | 9 years old | California
Alayna is pictured with her big cousin
Lyric and little sister Presley.

MacKenna | 15 years old | Alberta, Canada

Marie | 16 years old | Ireland

Research

On our road to finding Emelyn’s diagnosis I was often asked what we hoped to learn from finding a diagnosis. I even had medical professionals question the need for a diagnosis with statements like, “A diagnosis isn’t likely going to change the course of treatment.” While Emelyn’s diagnosis isn’t dramatically changing our current treatment, which mostly consists of a variety of therapies, we are learning very valuable information about Emelyn’s new diagnosis that will influence the focus of those therapy sessions. For example, not all, but many of the DDX3X affected girls are non-verbal. While I will never give up hope that Emelyn will someday use spoken language to communicate, I’m now even more determined to find an alternative means to help her communicate with us, such as through an app or communication device.

Emelyn using her Speak for Yourself app to
tell us she's, "All done."

Finding a diagnosis also means connecting with other families. Last week we began the process of enrolling Emelyn in a genetic research study at University of California, San Francisco. We didn’t learn about the research study from our genetics counselor or doctor, but from the parents in the DDX3X group. In fact, when we met with the genetic counselor at UVa, he told us we’d likely hear about research studies before he did. And he was absolutely correct.

I’ve been warned that research is a slow process. Good thing one of the lessons Emelyn has taught all of us is patience. While it’s likely to be some time before the research yields answers, I’m encouraged to see the research will focus on understanding the issues people with brain malformation face. Since no one has been able to tell us what “underdeveloped hippocampus” actually translates to in reality, I’m hopeful to one day have some insights from this research. The research will also focus on potential therapies that could help people like Emelyn.

I’m excited about the future for our little Emelyn. She’s has an amazing team of therapist and doctors vested in her development and now she’s going to have researchers too.