Happy Holidays! It’s been a while since I’ve updated. Here’s what’s new: another boy started ERT for Hunter Syndrome last Wednesday at BC Children’s Hospital. I consider this big news as kids around Canada are still being denied funding for Elaprase. We are so fortunate to live in BC and so fortunate that our government has agreed to fund Elaprase for us.
Other big news is that an Intrathecal (IT) trial for Hunter Syndrome will be starting in the spring of 2008 in North Carolina. With Intrathecal Therapy, the enzyme that kids with Hunter Syndrome are missing will be injected directly into the brain to help the effects of the missing enzyme on the brain. As far as I know, Shire HGT (Human Genetic Therapies) will begin the search for candidates in January. The trial will only be done on kids who have CNS involvement, so fortunately for us, at this point, Trey is not a candidate. If at some point Trey’s development begins to decline (which Dr. Escolar gave us a 99% guarantee it will not), he would then be a candidate for one of the subsequent phases of the trial. It is also great that Trey is not a candidate at this point as the first phase of the trial is a safety phase and not one that I’d be jumping for Trey to be a part of… although if he demonstrated CNS involvement, we’d do anything we could to get him in the trial. We’d also want him to be a part of the trial because of how hard it is to get rare drugs for rare diseases funded in Canada. If we had to wait for a trial to end and then fight for Trey to get the drug in Canada, it would almost certainly be too late for the drug to be effective. This has happened with families fighting to get Elaprase in Ontario. I cannot even imagine.
Recently, Trey has been to see his Rheumatologist, his PT & OT, his osteopath, and his ENT. Trey’s joints continue to have good range, the fluids in his head and body are continuing to move much better than before he began ERT, and a check up yesterday with Trey’s ENT told us that Trey’s new tubes are in, doing well and his ears are clear of fluid. Everything is going very well. Trey has a check up with his Orthopedic doctor in early January.
