Giving Tuesday: Help Provide Access to Free Genetic Testing

 In Blog


When our daughter Sofia was 2, we knew something was wrong with her vision. By the time she was 5, doctors told us she perhaps had Leber congenital amaurosis, and the prognosis was grim: total blindness by adulthood. They did say that if we could confirm her condition genetically, there might be a chance for treatment. So for more than seven years, we underwent genetic testing in the hopes of determining which genetic variation was causing her vision loss.

That was more than five years ago. Since then, so much has happened, ranging from our decision in 2013 to create Sofia Sees Hope to fund research into treatments, to the fact that in 2019, a child can be diagnosed with a specific type of LCA and receive treatment to restore vision within the same year.

In the time since we learned of Sofia’s diagnosis, 27 different genetic variations have been identified as causing LCA. One – RPE65 – has an FDA-approved treatment that has been performed on dozens of patients with great results. More good news: there are more than 30 clinical trials currently underway for inherited retinal disease, including several promising LCA treatments. But our work is not done. There are 26 LCA genetic variations still awaiting an approved and effective treatment. In the last week alone, we’ve heard from two individuals who have been turned down by insurance for genetic testing to
diagnose their retinal disease.

On this Giving Tuesday (December 3), we are asking for your help in making sure that every single person whose doctor tells them they have an inherited retinal disease has the ability to access a genetic test, easily and at no cost. To date, we have donated $105,000 to make it possible for families to access free genetic testing. That’s more than 100 patients we’ve helped open the door to the next steps in their journey. But there are many more still facing a closed door. We want to open it.

Between now and December 31, every dollar you donate to Sofia Sees Hope will go toward supporting free genetic testing. We thank you in advance for your support.


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