When you have a child, all you wish for is them to be healthy. You dream of the endless possibilities for what their future may hold.
This is exactly how we felt as our little miracle entered the world. Our days were filled with loving Rowen to the fullest with excitement for the months and years ahead. What we never imagined though, was that while most children have a clear path forward, we'd be waiting for the results of science research costing a million dollars to clear Rowen's.
Here is Rowen's story...
5 months into life, we noticed that Rowen wasn't hitting her milestones. But many children often develop at their own pace and catch up relatively soon down the line. And after regular checkups and developmental evaluations, everyone figured Rowen would too.
A few months later, we noticed Rowen displaying uncommon eye movements. Her eyes would flutter and roll back into her head. It happened a few times throughout the day. The first doctor brushed it off as a "tic." That answer didn't sit right with us, so we decided to seek other perspectives. Soon, Rowen would be having hundred of these eye flutters a day. And after countless doctor visits to specialists in different fields and tests that our poor little Rowen had to endure, we came to realize every parent's worst nightmare.
Rowen was diagnosed with a rare genetic disease. So rare that it doesn't have an official name. And so the medical world refers to it by the gene that is affected: SLC6A1. Our hearts were broken. What we read broke them even more. The information was straight to the point; SLC6A1 starts with mild epilepsy and developmental delays in the first couple of years, and by the age of 3-4 years old, can progress into severe epilepsy with debilitating consequences. Some children have woken up one day having lost the ability to walk, talk, and do many of the things they've had to work harder than others to learn. With Rowen being 2 and a half years old now, we are racing against time for a solution. FOR A CURE. Doctors had told us there was nothing we could do but try to make the best of it. Little did they know, a team of scientists at the University of Texas Southwestern were working toward a cure.
When we found out about the research for a cure, hope was renewed for our family. Tears of happiness and faith streamed down our eyes as we searched for more information on the progress of a cure. We learned that the research was so far into development, that a possible cure had recently been given to mice who scientists were able to reproduce the genetic disease in. The results of that cure will soon be determined. But what we also learned, is that the science pushing the cure forward, comes with a hefty price tag in order to continue. And that price tag, falls on the families whose children carry this rare disease.
As of writing this, the SLC6A1 families have raised over $500,000 dollars, all directed toward the non-profit research efforts at UT Southwestern. Now, WE'RE jumping into the fundraising efforts to help save Rowen's future, and the futures of all SLC6A1 children. The cure will cost $1 million dollars in the first year of development, and over $4 million to get it into clinical trials in the following year. There is not a single one of us that fails to envision getting this done, but we are up against time with Rowen inching closer to 3 years old every day.
IF YOU HAVEN'T WATCHED THE VIDEO ABOVE, it's a chance to hear more of Rowen's story and how scientists are utilizing gene therapy as a pathway to a cure.
HOW YOU CAN HELP
We come to you as a humble family, asking for your help to FUND THE CURE by clicking the donate button and giving what you are able to, even if just the cost of lunch for the day.
We thank you each and every one of you from the bottom of our hearts, and hope that your giving graces are returned to you in a time when you need it most. We promise to keep you updated as we learn more about the progress of the cure, and hope to one day tell you that Rowen is free of this disease, with a beautiful, bright future ahead of her :)
1) Is gene therapy proven? Absolutely. If you'd like to see its curing ways in action, just google the drug Spinrazza for spinal muscular atrophy, Kymriah for acute lymphoblastic leukemia, or the clinical trial for giant axonal neuropathy. The key for all of these pediatric conditions is early treatment. Children are being given a second chance.
2) Does gene therapy for SLC6A1 help other, more common diseases? A mutation in SLC6A1 causes a disruption in the chief inhibitory neurotransmitter known as GABA. GABA is directly linked with epilepsy, autism, schizophrenia as well as many other neurological disorders.
3) Is my donation tax-deductible? Your donations are fully tax deductible as we are a 501c3. Our EIN is 83-1415567. If you made a donation over $250 you will receive via email and below $249, your credit card records are sufficient.
4) My employer matches donations. How can I make that happen? Please submit your donation for a company match directly with your employer . Companies can then donate right on CrowdRise, or send checks for the match to the non-profit 501(c)(3) funding the research at the address below:
ATTN: Amber Freed
2426 South Clayton
Denver, CO 80210
5) Do you have a website? www.SLC6A1Connect.org: Please sign up for newsletter updates on website to follow the cure's progress.
6) Where will proceeds go? ALL proceeds go to fund SLC6A1 research at UT Southwestern via SLC6A1 CONNECT, a non-profit 501(c)(3). We are strictly volunteer-based families working to raise funds for the cure to move forward.
7) Why is this disease so rare? The gene that causes this disease was discovered in 2015 and doctors didn't begin testing for the disease until late 2016. There are most likely thousands of people with this disease but they don't know they have it. Part of our mission is to raise awareness so we can reach more patients.