When Em was first diagnosed with Angelman Syndrome in 1992, we weren't given any hope for a cure. We became part of a helpful community and learned as much as we could about helping Emily live with the challenges AS brings and grow and learn to the best of her ability. She has endured intractable seizures and hospitalizations. She struggles to communicate her most basic desires and feelings, and she still can't walk without assistance. She's now dealing with nonepilpetical myoclonus, which are long seizure-like episodes.
But when we attended our first FAST science summit four years ago, we had REAL hope for the first time. We found out that scientists know the function of the missing gene. We know that Emily lacks tonic inhibition. Basically her brain is SO NOISY THAT IT IS LIKE DRIVING A CAR IN A RAIN STORM AND TRYING TO SEE THROUGH THE RAIN AND WINDSHEILD WIPERS GOING AS FAST AS POSSIBLE AND NOT GETTING INTO AN ACCIDENT, NEVER MIND CONCURRENTLY READING A BOOK, TALKING TO YOUR PASSENGERS AND FOLLOWING THE NAVIGATION SYSTEM. This is too much on her brain to get it all done effectively because it's too noisy.
There are multiple studies being done that are not only being fast-tracked, but complementary and non-duplicative. FAST scientists meet regularly to update one another on progress. And AS has been cured in mice models with two different therapeutics. The FAST organization is made up of a small group of parent volunteers and its sole purpose is finding a cure for AS.
Now, we're most excited about recent advances in gene therapy. That field has grown exponentially in the past few years. We heard a leading expert in gene therapy from UPenn at the most recent FAST science summit say they recently took on AS as an orphan disease in their gene therapy research lab because a pathway to a cure for AS is likely. Not just possible, but probable.
What will Emily be like with a fully functioning ube3a gene? I don't honestly know. But having that barrier to learning, walking, and everything else she has been unable to do without near 100 percent assistance removed for the first time... I'm excited to find out.