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.

Worry

At our house, we spend a lot of time focusing on the here and now. While the here and now is sometimes stressful and chaotic, it’s often filled with a sense of happiness. However, I’d be a liar if I told you I don’t worry about Emelyn’s future. While I don’t have a crystal ball, her diagnosis gives us a glimpse into her future. Emelyn will likely face challenges with communication as many girls with DDX3X are non-verbal or have very limited spoken language. Due to Emelyn’s low muscle tone, she’ll likely struggle with both fine and gross motor skills making everyday tasks like climbing stairs or preparing meals cumbersome. We work every day with therapies at school, in the clinic, and at home, to help Emelyn overcome these challenges, yet the worry is still there.

Last week, I had the opportunity to meet Beth and her older sister, Melissa. They also gave me a glimpse into Emelyn’s future. Beth, now a grown woman, was about Emelyn’s age when her parents received her developmentally delayed diagnosis. While Beth’s mother served as her advocate for much of her childhood and into adulthood, it was Beth’s sister, Melissa, who picked up the torch to keep Beth’s best interests front and center as their parents aged. As Melissa and I spoke for the first time, we brought each other to tears. I admitted how I once thought Emelyn would be a burden to my oldest daughter, now and into the future, but how I’d really grown to know that wasn’t true. I told Melissa her relationship with Beth gave me so much hope and joy for my own daughters. Melissa told me that Aubrey will not only want to take care of her sister, but she’ll be in a better place to empathize and care for others for the rest of her life. “She’s going to be an amazing person because of her sister,” she told me.  

Aubrey was super excited to get footie pajamas, but
even more excited when her sister got a matching pair.

Aubrey’s not blind to Emelyn’s developmental delays. In fact, when Emelyn was born, so were several other babies in and around our family. Those babies, now approaching three years old, have been walking and talking for nearly two years. We’ve always told Aubrey, and other children who ask, “All children are different and Emelyn is just on her own schedule.” It’s not a lie, but it’s not the whole truth either. I’ve always wondered, do we sit Aubrey down and have “the talk” with her about Emelyn? While we’ve always answered every one of Aubrey’s questions with as much detail as necessary for a six year old and tried to encourage her to share her thoughts and feelings about things that concern her, “the talk” always seemed unnecessary, at least right now. I was grateful to Melissa for reassuring me that I don’t have to have “the talk” with Aubrey. She told me Aubrey will learn from Patrick and I how to stick-up for her sister. And one day, when the time is right, “the talk” will just naturally happen. Until then, we’ll let Aubrey observe, ask questions, and continue to develop a profound love for her sister.

Most younger siblings look up to their
older siblings...in our house, it's Aubrey who
looks up to Emelyn.

Worry…it’s a pointless activity all parents do. Before Emelyn, I spent far too much time worrying (and complaining) about the most ridiculous things, and I’m not saying I don’t do that anyone, but I can promise you it’s a lot less frequent. Being a special needs parent brings a different perspective to life and for that, I’m grateful. I’m grateful this different perspective will be a part of Aubrey too. Meeting people like Melissa and Beth is a reminder of the love and support that will always fill Emelyn’s life. And because of that, I have no reason to worry.

Connecting

When Emelyn’s developmental delays were first becoming evident, I grew to hate social media. Seeing pictures and videos of other babies taking their first steps, drinking from a cup, and saying their first words was painful. It’s not that I wasn’t happy for those other families, because I was, but I was sad to see the growing divide between Emelyn and her peers. But like any grieving process, you do eventually get to acceptance and your mind stops the unhealthy practices of comparing and feeling sorry for yourself. It was then that I gradually returned to social media to find support.

When Emelyn was around one I connected with a local group of parents with special needs children on Facebook. While our children have different diagnoses, as well as varying abilities and challenges, we are all navigating the special needs world. The value of connecting with people who get what you’re going though is priceless. When I see a mom post a video of her son or daughter taking his or her first steps at five years old, I not only celebrate with her, but it gives me hope for Emelyn. And while I’ve come to love our online connection, I’m grateful to be able to see these other moms on a regular basis in-person. There is something extra special about our personal connections.

Now, nearly two years later, I’m once again connecting on social media. Within an hour of Emelyn’s diagnosis, I was on Twitter connecting first with another dad whose daughter had just been diagnosed with DDX3X, and then with a private Facebook group of a handful of parent’s with affected daughters. It’s a small group, of less than 100 members representing about 20 or so of our girls. While we’re spread all over the world, I’m hopeful I’ll get a chance to one day meet these moms and dads in-person. There’s something to be said for networking the old fashion way.

So, while social media once brought sadness, it now brings connections and hope. I’ve now read several parents’ descriptions of their daughters and they sound so much like Emelyn, “happiest person I’ve ever met,” “bright red hair,” “loves water,” and more. While you won’t find these things in a study, I’m finding our daughters are bringing a very special love and happiness to each of our families.