Wednesday, July 29, 2009

More to the story...

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!

My story and welcome to it!

Where to begin? Well, perhaps first up is why am I jumping on the bandwagon and joining the blogging world? I guess the best reason that I can give is that I like to write and I like to have a voice. I also would like to be able to use this as an outlet to reach my family and friends, to share a part of my world. So, I'll start at the beginning....
For those of you who don't know me, I have been married to my best friend (Jim) for the last 28 years. Together, we share two children-Michelle is 27 and the mother to our only granddaughter Bella, and Tim is 23. All three of them are currently living with us in a home that we share with our two dogs, Roxie and Chester. I have a large family that is diverse and somewhat difficult to keep track of, but I'll do my best to give you the short version. My mom (Judy)and dad (Lou) were married, had me and my 2 sisters and divorced. Mom found love and married again when I was young-7 I think. "Dad" (Pete) had 3 kids from his first marriage and together they have one daughter, who was born 2 days after my 10th birthday. My father was remarried (Doris) that same year to a woman who had 5 children and they together they decided that 'Eight is Enough'. 34 years later, my Father's wife passed away rather suddenly and a year later he was introduced to the woman who would become his third wife, Marlena. Let me just say that I don't have any hard feeling regarding my parent's divorce. Their marriage was not meant to be and both are happier people by not being married to one another. I never considered myself to be from a 'broken home', my home was more 'normal' than many and I never doubted my parents' love for me. 'Nuff said.
Onward. Three years ago I was diagnossed with an adult onset form of Muscular Dystrophy, DMD 2. The road to a diagnosis was long, but I will give you the highlights. I always knew something was not quite right and often told my doctors that I felt like my limbs didn't always get the messages from my brain. I was usually dismissed and just began to think that I just nuts. I had been having symptoms (though I didn't know that's what they were yet) since my late teens, early 20's. Then one morning I woke up and had a 'cramping' in my shoulder. I thought that I had slept on it badly but when I didn't go away after a few days, I saw my doctor. Without an examination, I was dismissed as being under stress even after telling the dr. that I wasn't under any undue stress, she said to call if I didn't feel better in 3-4 weeks and she would then refer me to a neurologist. Since my insurance didn't require a referral, I scheduled an appointment with a neurologist on my own. After weeks of tests that all came back negative, my dr. decided to do an Electromyography (EMG), which is a nerve conduction study. The results showed something was amiss, but he didn't know what.
If you are still with me, I'll sign off for now and post the rest of the story later.