The following is a repost from a series of entries made on my personal Facebook page, a play-by-play leading up to our current situation that has me typing away here in Minneapolis.
Oh yeah, the news I was going to post: Got a connection to a clinical trial at the University of Minnesota involving a possible stem cell transplant. Was told this is not a cure, but the goal is to arrest progression of his disease. To me, stopping progression or slowing it down enough that he can live well into adulthood sounds like a *bleeping* cure to me. Nothing is firm, we actually have to visit UM to see if we want to do this. There are risks involved, including 5 months of chemotherapy in addition to another 100 days of testing and observation, all in Minnesota, which means spening most if not all of that time away from you lovely people, family, and jobs.
Also, we found out Monday this his hearing loss is not due to the gangliocidosis, but by a mutation in his GBJ2 gene. Most kids with his mutation have profound hearing loss, if any hearing at all. His level of “moderate” is actually very lucky, and his hearing aids that he’s getting will make a large difference. He also will be going through some intensive speech and listening therapy to catch him up. But he’s really a smart kid as shown by his ability to follow and mimic even seemingly complex actions just by observation. Plus you can’t fool the kid by handing him the wrong remote control or handing it to him backwards — he knows what’s up.