December 13th, 2009 Posted in Uncategorized | 8 Comments »
Last week we met with Peter’s neurologist to discuss the results of the muscle biopsy that was taken in August. Yes, we were still waiting on those results. But finally they were all in. The good news is that we ruled out alot of very scary disorders and we know with some certainty that Peter’s disorder is not degenerative (i.e. it should not get worse over time). Also, we know for sure that it is not muscular dystrophy.
Peter’s diagnosis is called Congenital Fiber Type Disproportion Myopathy, which really is just a catagory of disorders that act in similar ways (more info here). The biggest sign of this disorder is that the muscle cells are not developed as they should resulting in the weaknesses we see in his neck and shoulders and delays in gross motor skills (jumping, running, etc.). It is possible that similar weaknesses are present in other muscle groups (legs, hips, etc.) though it doesn’t appear to be the case. We have no way of knowing if the muscles will recover fully over time, though we have seen small improvements since Peter was born. Since neither Tim, nor I, exhibit this trait it is likely that it is either a recessive trait that we both carry or a mutation at some level.
The plan then is this: Peter will continue to do physical therapy indefinitely. Once we see his therapist this week, we will hopefully have a chance to re-evaluate the frequency of PT and our focus in PT. Peter will also see several specialists regularly (maybe every 6 months to a year). One is the neurologist who we just met with. Another is the orthopedic surgeon who we first saw in January to monitor Peter’s spine and verify that the muscle weaknesses are not affecting the spine. It is possible that Peter would one day need to have vertabrae fused together if the muscles do not improve. The last specialist is a pulmonary doctor to monitor the affect of the muscle weakness on his lungs and heart. No one is concerned about this right now, but they want to keep a close eye on it to make sure it doesn’t become a concern.
All in all, this diagnosis is a good one as it is something that is not fatal and one that can be monitored easily. Peter may never be a professional football player (sorry, Tim!), but it seems that it is something Peter can deal with without much trouble. As a parent, it is always hard to hear that your child isn’t perfect and frankly the medical costs are overwhelming. But we live 5 minutes from the best children’s hospital in the region and everytime we go there I am reminded that other families are dealing with much bigger issues than us. Thank you for your continued prayers and support. We truly appreciate them.
And to show you just how normal a kid Peter is, here are some pictures of Peter getting his first lesson on how to dunk an Oreo cookie from Tim.
