I was officially diagnosed when I was 21. I still remember sitting in the doctor's office after showing him the 'neat trick' I could do which was touch my shoulders together in the front. Made for a great party trick!
But of course, I knew there was something odd about it. Something strange about not being able to lift my arms very high, the way my shoulder blades stuck out. Well, it was the first time I saw a doctor scratch his head and bury his head in his medical books to figure out what this thing was he had never seen.
He emerged with a possible diagnosis "Sprengel's Deformity". Not a bad first guess. He wrote it on his prescription pad with a question mark and instructed his nurse to call an associate who specialized in back-related issues.
I have to admit, at first it did seem like an adventure or an answer to a riddle. Such an oddity that you try to accept as normal, when you know something is not quite right.
The back specialist seemed to recognize it far more quickly and sent me to a neurologist for some tests. Never in my wildest dreams did I think he was going to say what he did when I walked into his office with my test results.
He sat at his desk, pulled out his file and said you have a rare type of muscular dystrophy called facioscapulohumeral muscular dystrophy. I could barely say it, let alone know what it even meant.
But at that moment, I felt a weird sense of relief to know that I had "something" that would explain my every failure in any athletic endeavour I made. To know me, you would know I am ambitious, driven and have a fierce sense of competitiveness and fight against failure. Here I was, failing at everything I tried and I tried everything.
It soon became clear to me, I shouldn't have breathed any sign of relief because there was no cure to this "something" with the impossible name. The next part of the conversation with the neurologist was a ghastly explanation of a surgical option called scapular fusion where the risks included punctured lungs, broken ribs and well, death if the surgery went wrong. Now let me quickly say, I did end up having the surgery and they did nick a piece of my lung during the first operation, but it was by far the best thing I ever did for myself. It gave me independence and as anyone with a disability knows, that's what counts.
To this day, it amazes me how little most doctors and specialists know about this condition. I had to take a patient brochure with me whenever I went to a health care specialist. No one seemed to know what this was. I have to admit, I was and still am on occasion, tired of explaining it. It's hard to explain this condition that even the most informed person on the subject will still answer with "I don't know". I don't know how fast or slow it will progress. I don't know how I got it (no one in my family shows signs of it). I don't know if it will affect any kids I have. I don't know when the condition peaks and plateaus. I don't know what the worst looks like.
On the other side, I am a 40 year old female living in Canada. I have a full time job and have a great family, wonderful friends and a life I sometimes take for granted.
Since the whole blog is more about my story, I will leave it here and tell you more in other posts.
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