Meet our 2-year-old daughter Charlotte. She has a rare neurogenetic disorder called Angelman Syndrome (AS), which means she is missing a small piece of her 15th chromosome, which can cause developmental delays, limited speech, difficulties with balance, and sleep and seizure disorders. Charlotte is also one of the happiest, sweetest children you will ever meet.
Because AS is a single gene disorder, it has a significantly higher chance of being among the first disorders cured as scientific research advances. We were blown away to learn about the multiple approaches to a cure that the Foundation for Angelman Syndrome Therapeutics (FAST) is currently funding. Boyd and I recently had the privilege of joining Dr. Weeber - a pioneer in gene therapy who has already cured AS in mice - for dinner in Los Angeles. We believe that with funding, a cure is in Charlotte's future.
Since AS is not as high-profile as many other disorders, scientific research to help Charlotte and others with AS depends on parents raising support from friends and friends-of-friends. Please join us in supporting scientific research towards a cure that could make it possible for Charlotte to walk, talk, and live seizure-free.