Because little federal funding exists for single-gene therapy research, in 2018 Will’s parents used Facebook to find others affected by the same rare disorder. Together Doug and Kasey and two other families established the CureSURF1 Foundation. The sole mission of the foundation is to raise the funds needed by the UT Southwestern (UTSW) team to research a SURF1 cure.
Recently, several more families have joined the group. We hope others will learn about the Cure SURF1 Foundation through the success of the One Day for Will campaign. Even if Will is not healthy enough to make it into the UTSW SURF1 Leigh Syndrome human trial, other kids will be able to participate. Please meet some of the potential candidates through the CureSURF1 site.
We want every child who lacks an effective copy of the SURF1 gene to live a full and happy life. We want them to meet and maintain the developmental milestones that so many of us take for granted. When you give to the One Day for Will campaign, you are giving to every child who has been diagnosed.
It’s possible there is a child in utero today who will never have to face losing developmental milestones because we are funding a cure now. Perhaps like Will, this tomorrow child will be diagnosed at age two and his or her doctors will be able to tell the family: “It’s okay. The FDA has just approved a treatment for that. Your child will receive trillions of effective copies of the gene via a single spinal tap…”
THE RIPPLE EFFECT
Of course, we’re not only helping the children diagnosed with SURF1 Leigh’s Syndrome. We’re helping their siblings and their entire extended families, too.
For example, when Will was diagnosed at age two, his younger sister, Lauren, was only seven weeks old. At that time, Doug and Kasey learned they each carry a defective copy of the gene and that Will received and carries both defective copies in his genome. His sister, Lauren, however, received a single effective copy from one of her parents.
With her effective copy, Lauren does not experience the devastating effects of the disease. But like both of her parents, she is a carrier. When Lauren grows up–if there is no cure–she will face a difficult choice if she wants to have kids. Will she chance having a biological child, will she adopt, or will she choose to mother no children at all?
By funding a cure, children like Lauren will not be forced to make such a difficult choice. The positive ripple effect of a cure resolves this painful scenario and so many more.