Sandee's Story

How has CMD had an impact on your life?

I seemed to have a normal childhood and was pretty much able to do all the things other kids could do except for the fact that I couldn’t ride a bike sitting down. My legs didn’t seem to be strong enough sitting but were totally fine standing up. I don’t really remember any other problems until I married and was living in Charlottesville. The streets were very hilly, and I had a difficult time walking up and down those hills, but other than that things were good. It would be a game of tennis at the age of 40 that turned my life upside down. Everything was going well until that one morning when I met the girls for our usual weekend game. I started to run after hitting the ball, but my legs wouldn’t move. I had no idea what was happening. I had just played a game of singles the day before and was fine. I also noticed that my ankles seemed unusually tight. I went to see my orthopedic doctor who said I probably pulled something and that I would be okay in a couple of days. I was never okay again. Little by little, I began not being able to do the things I had always done. I was sent to doctor after doctor and was given one incorrect diagnosis after another. One doctor even suggested that these problems might be in my head and suggested seeing a psychiatrist. It would be 27 years of searching and never giving up until I finally got a definitive answer. In all the years of searching, no one ever mentioned the possibility of a genetic disorder. I talked to my primary care doctor about pursuing this area of medicine. On the internet, I found Dr. Carsten Bönnemann at The Children’s Hospital of Philadelphia. I called and set up an appointment, and after 2 skin biopsies, I got a call identifying a rare Collagen 6-CMD called Bethlem Myopathy. I am 67 years old at this point and began crying, not because I was upset with the diagnosis, but so happy to finally after all these years have a definitive answer as to what has been slowly debilitating my body. I started learning everything I could about Bethlem and made friends with some people on the Cure CMD site. I had an unusual experience shortly after my diagnosis. My CMD had progressed considerably, and I was using a wheelchair a good bit of the time. I was shopping for a handbag in a local department store and asked the salesperson if a particular bag came in other colors. Instead of responding to me, she told my friend who was pushing the wheelchair that it did not. My friend told her that I could speak and answer for myself. I was beyond devastated that just because I was in a wheelchair, this salesperson didn’t see me the same way she saw the others who were walking about the store. It was at this point that I knew I would never ever let my disability define who I was and hoped that others could look beyond my wheelchair as well. I have since started a non-profit in my husband’s memory providing free interview clothing to those who can’t afford clothing. I have written 4 children’s books, run a children’s blog and my latest project is an online puzzle/game. I am so thankful that my brain is still working and can’t wait to see what my next project will be.

What do you wish people knew about CMD?

I wrote a story a long time ago when I didn't know what I had and in that story, I said that even though I wasn't happy about it, I had to learn to make peace with whatever I have and find a way to accept and get along with it.

What advice would you give to fellow CMD Community Members?

I think I would say don't let it define who you are as a person. If there is something you want to do, try to find a way to make it happen.