A diagnosis
December 13th, 2009 Posted in UncategorizedLast 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.
8 Responses to “A diagnosis”
By Merideth on Dec 13, 2009
Ooh Peter! I love oreos! Glad to hear the diagnosis is not something awful. Hugs all around from the Stephens family.
By Aunt Mandy on Dec 13, 2009
Peter is actually quite advanced. I didn’t learn to dip oreos into milk until I was about 6 and Craig still looks something like the above pictures of Peter when he takes a stab at the cookie-dunking! We both love you three and will continue to keep you all in our prayers!
By Grandma K on Dec 14, 2009
So happy to see that Peter has perfected the cookie dunking that was a favorite of his great grandpa Peter Mahler - master dunker!!!
We continue to pray that the improvement in the muscles continues and yes we can vouch that Peter is a very normal little boy especially with his curious nature. We love all of you and keep all of you in our prayers. KEEP DUNKING THOSE OREOS PETER!!!!!
By westcoastauntiemillie on Dec 14, 2009
Thanks for the update. There is no doubt in my mind this will slow Peter down. I am so glad that the Dr’s have ruled out the things they have. As far as the cookie dunking goes, well, that looks like wat too much fun.
Merry Christmas to all of you, and well, Peter is my all time favorite little guy!!!!!
By Tiffany on Dec 17, 2009
Wow you guys, that is still a lot to digest. I can only imagine all of the emotions you are going through. I can lend an ear if you need to talk/cry etc. It is painful when you hear your child is not perfect and may have some minor issues to deal with all of their lives. I praise God for his well being and I will pray that his muscles strengthen and he will never have to have surgery to fuse vertebrae together. HUGS from the Bidne’s.
By Cousin Ted on Dec 18, 2009
Greetings from sunny South Florida!
Although it is a little disappointing that Peter may not be a football star,it is not too early to introduce him to the culinary arts and maybe follow in the footsteps of his namesake. BTW TIM!!! When are you going to dig up and email me those recipes of Papou’s? I am feeling a bit peckish!
By Lyn South on Dec 21, 2009
I think Peter, a handsome young man already, has no doubt inherited his mother’s beautiful singing voice, and will follow in her footsteps in another direction, and we will someday see him on stage! As for parenting a child with medical challenges, Lani and Tim, talk to my kids, Melanie and Dean. They are veterans of Children’s Hospital visits, what with Lindsay’s OI (osteogenisis imperfecta, the brittle bone disease}. It’s a challenge for parents, but the kids themselves are troopers. Your little guy is a sweetheart!
By westcoastauntiemillie on Dec 31, 2009
OH no, I just reread my note, it should read will NOT slow Peter down.