This is a hard blog to write, but here it goes.
We got a diagnosis from our St. Louis doctors, and it’s about as bad as we could imagine. William has Neuronal Ceroid Lipofuscinoses or more commonly known as Late Infantile Batten Disease, http://www.bdsra.org/. He is getting genetic testing to verify this diagnosis Friday, but the results won’t be back for several weeks. We have little hope that it’s a misdiagnosis because we feel the doctors wouldn’t have given us this devastating news without being sure.
There are about 200-300 children in the U.S. with this horrendous disease and 1,200 in the world. It’s classified as an “orphan disease” because it’s not economically feasible to find a cure for only 1,200 kids. There is a clinical trial at Cornell University Hospital in New York that is an option, but we have time to think about that because they need the genetic testing results to accept a patient. The research involves injecting stem cells into the brain, and isn’t a cure. It might slow down the progression somewhat, but that’s all.
We really appreciate your concern and prayers! As you can imagine, we are having trouble dealing with this, and find it hard to talk, or even think, about it without crying. We are trying to take this one day at a time and even that seems overwhelming!
We will keep you updated through William’s journey. Please keep us in your prayers!!