I started this blog to help me cope with the stress of dealing with being a caretaker of someone who has a chronic illness: muscular dystrophy. The diagnosis of muscular dystrophy is only a little over a year old. Before this, we had explored many different diagnoses. As someone with a rare disease, Darling Boy has seen 3 different geneticists. Finally, D.B. had a muscle biopsy done in February, 2012. It was sent to the Paul Wellstone Muscular Dystrophy Center at the University of Iowa. After several months, the verdict came back that he has an alphadystroglycanopathy. It took almost a year to coordinate with our neurologist and U. of Iowa to get a skin biopsy done in January of this year. His cells are being looked at to see exactly which genes are whacked. Almost 6 months later and we still haven’t heard from the lab. Apparently, it takes awhile to get this type of testing done. It still may not give us a definite diagnosis but it’s so good to be able to name what he has. There’s a lot of power in that. I always think of the fantasy book, The Wizard of EarthSea by Ursula K. LeGuin. The wizard learns as an apprentice that there is power in knowing the true name of things. I think there is power in knowing the correct diagnosis. Even if the prognosis isn’t great, at least you have a name and can connect with people who are going through a similar experience.
So we learned that Darling Boy has an alphadystroglycanopathy; a form of muscular dystrophy that has different permutations. D.B. formerly had a diagnosis of Ataxic Cerebral Palsy. The difference between Cerebral Palsy and Muscular Dystrophy is that Cerebral Palsy results from a brain injury that causes physical impairment. There may be changes as the child grows but the brain injury is static. Muscular Dystrophy is a genetic disease that causes physical regression such as the loss of walking, talking and even the ability to breathe. In Darling Boy’s case, he has never been able to walk because he had balance issues. But he was able to do everything else: roll over, sit up, creep, crawl and cruise on furniture. Gradually, he lost his ability to pull to stand and crawl. He was always a good eater and had no problem with chewing. Then about 2 years ago, he was diagnosed with dysphagia and now needs to have a chopped and blended diet to keep him from aspirating his food. These changes were indicators that he had more going on than Cerebral Palsy.
Anywhoo, after my friend, stark.raving.mad. mommy shared my post about how I just can’t stand living in Holland, I got an e-mail from someone who’s kid has the same thing. It’s amazing and magical how the internet can be a venue of support for those of us who have these kids. She and her son are the first people I met, albeit virtually, who have the same diagnosis as D.B. She sent me a link to her blog site and we have corresponded several times since then. She also told me about this organization called Cure C.M.D. (Congenital Muscular Dystrophy) that is based on the N.I.H. campus in Bethesda, MD. They are having a free family conference this Monday and I’m going and staying overnight. That’s right, staying overnight, in a hotel with a pool and room service. My friend who’s coming to keep me company is bringing wine. I will get to meet other families who are going through a similar experience to mine and listen to people who are researching congenital muscular dystrophy.
I would never have learned anything about this organization if I hadn’t started this blog. Therefore, I think the interwebz can be a magical place where strangers can share information and support. It’s not just for snarky celebrity gossip sites!