I was born in Georgia in 1965. When I started elementary school, my parents and others noticed that I was walking on my toes and had very limited strength and stamina. My brother who is 2 years younger also showed the same signs. After consulting with my pediatrician, I was sent to see a neurologist. I was misdiagnosed for years with different types of muscular dystrophy. In 2006, I was finally diagnosed with Bethlem myopathy.
The disease which has progressed throughout the years did not significantly affect my day to day life through childhood into early adulthood. I found ways to compensate the best that I could even though I did have to deal with others kids making fun of me when I was younger. My brother and I underwent bilateral heel cord lengthening in 1976 to “fix” our toe walking and for me the operation was a success. My brother unfortunately had to have the surgery again in 1981 as his toe walking had returned.
As a child, I stayed away from many physical activities and began taking piano lessons in 1972. I studied under my grandmother who was a well known piano teacher and choir director who had studied at the Juilliard School of Music. Even though the physical aspects of my life were not good, I excelled in school and in music. I still play piano today for many church functions and other events even though my abilities to play are becoming diminished due to the contractures in my fingers.
I attended Georgia State University and earned a degree in finance and a Masters degree in Computer Information Systems. I became the Data Processing manager for the world’s largest Trade Show/Property Management firm in 1990. I started consulting in 1994 for several firms in Atlanta and then started my own successful consulting firm in 2002. I am very lucky that my business continues to be successful and I have a very understanding client base when it comes to my physical limitations.
My brother and I were misdiagnosed for years. We were first told that we had Kugelberg Weilander disease, then some sort of anterior horn cell deficiency, then Rigid Spine Syndrome. Our neurologists missed many key symptoms such as finger and elbow contractures and that we could touch our chins to our chests. Since there was no family history of the disease one neurologist determined (in some of his notes) in the early 90’s that we could not have Bethlem myopathy as it is a dominant disease and there must be someone in our family that had it before. We were often told, “Well glad to see you’re not in a wheelchair yet.” This type of statement did nothing but infuriate me as it seemed that nothing was being done to help us.
After total frustration and advanced progression of the disease, I met with my general practitioner who agreed I needed a new light on the subject. After seeing several more neurologists and undergoing a DNA test we discovered that indeed my brother and I had Bethlem myopathy. Both my mother and father have mutations on the COL6A2 gene. They are both asymptomatic. The doctors feel that our form of Bethlem myopathy is likely recessive. My 3 year old niece is not showing any prominent signs of the disease. My brother and I started seeing a private physical therapist who continues to work with us. Without his help I’m afraid things would be much worse than they are.
As I turned 40, day to day life was becoming much more difficult. I often need aid to rise from a low position such as a chair, and stair climbing or hill climbing has become almost impossible. I walk with a cane most of the time and use an assistive device like a booster to place on low chairs. I have completely remodeled my house with my disease in mind and all toilets are handicap height and I have grab bars in the showers and tubs.
My biggest fear is falling somewhere outside of my home. If I do it takes a monumental effort even with assistance to get back up. Fortunately walking with a cane has helped prevent most falls.
I love to travel and have found that traveling with a folding cane and traveling with a companion has helped a great deal. I hope to continue traveling and sight seeing as much as possible as I enjoy it immensely. I have been to Europe several times and have traveled extensively in the US for business and pleasure.
In 2007 I started reaching out to others via my website www.bethlemmyopathy.org and have met so many great people. I hope that the research into the CMDs will proceed at a rapid pace and that there will be a treatment or cure sometime in the near future.