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.
