I've had CCD since birth but it took me years to find out what I had because doctors thought my symptoms were all in my head. I was 59 years old before I found out I had Central Core Disease; confirmed by muscle biopsy and blood tests. It is a genetic condition and very rare but no one in my family has it. I've now been placed in an aged care home to be looked after as I am so weak there are so many things I cannot do for myself including dressing myself. I am wheelchair bound and rely on it heavily. The incidence of the disease is 1 in 10 million so it is thought and I am only the third person in Australia with the disease. As no one in my family has the disease, I am probably the first one with the mutated gene. I also have hypotonia and my shoulder joints are "locked" and I have Scoliosis as well; all associated with the disease. As a child my parents nick-named me Speedy as I was so slow moving and walking. I couldn't run or swim and was bullied a lot at school.
Depression plays a big part in this disease too. It hasn't been easy over the years. Fortunately my respiratory muscles have been spared for the time being but my neurologist has worked out I have a progressive form of the disease. Nearly twelve months ago, my neurologist took blood samples for DNA testing and to have over 400 of my genes tested and I'm still awaiting results. She is doing generational testing to see if there was a starting point somewhere in my family.
If there is anyone out there with this illness or can give me information, I would appreciate it.
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