So, the specialist didn’t know what it was, but it was something and I wasn’t crazy. That was something. He referred me to a dr. at Johns Hopkins in Baltimore and it was from that visit that I was to learn of the diagnosis. The dr. had suspected DMD, but it was confirmed with a DNA test. What is it and how am I affected? Quite simply myotonia refers to an inability to relax muscles at will. DMD is a progressive, systemic disease and it varies in severity, even within the same family. Weakness in the distal and proximal muscles, breathing and swallowing difficulties, heart conduction problems, weakening of the internal organs, cataracts, diabetes and adverse reactions to anesthesia and cognitive impairment can all be associated with DMD, although having all of those symptoms is uncommon. Currently I experience muscle weakness and pain, difficulties swallowing, sleep apnea, visible twitching and tremors and some gastrointestinal problems. Most recently, it has been discovered that I am anemic and further testing is pending. How do I feel about it all? Well, I feel blessed. Really. I know that it could be much worse, and I am grateful that it is not. I have a great support system and I am being treated by one of the top doctors in the field. And, I know that I am not alone. As difficult as this road may be to travel at times, I know He is right there beside me every step of the way. And that knowledge strengthens me.
How do I feel physically? That is more difficult to answer. Most days I am tired-extremely tired! I have almost constant pain and muscle spasms, although the level of pain does vary. Moving quickly is not an option for me. But I can still move and that's something for which I am very grateful!
What do I expect to share on this blog? I am not really sure. Stories, pictures, recipes (just joking!), my creative endeavors, who knows! Mostly I think of it as an outlet for my thoughts, feelings, dreams and challenges. We'll see!
1 day ago