Robert’s story

My name is Robert.  I was born in 1967 in Georgia and had no birth complications.  I have lived in the Southeast for my entire life.   In 2006, I, as well as my older brother, was diagnosed with Autosomal recessive Bethlem Myopathy. My brother and I share many of the same symptoms and while he’s shared his story with CMD already, I wanted to take this opportunity to share my experiences of having and living with Bethlem Myopathy.

The first signs of “something’s not right here” was early on in elementary school.  We had a pronounced tendency to toe walk.  In 1976, my brother and I saw a pediatric orthopedic surgeon who performed bilateral heel chord lengthening on both of our legs.  The surgery was successful for my brother as his toe walking never returned.  The same could not be said for me.  I had to repeat the surgery in 1982 with an additional tendon transfer on the top of each foot.  This time the surgery was a success, however because of the severity of the surgery (at that time) it eventually gave rise to chronic venous insufficiency in my lower extremities. Thus, I have had to deal with moderate to severe swelling in my feet and lower legs.  While the swelling comes and goes, I have been told by a vascular surgeon that it could lead to problems later in life.  For now, I manage it the best I can.

In my elementary school years, I was quite active playing a variety of sports.  Tee-ball, baseball, soccer, neighborhood football and basketball games just to name a few.  While I was slower physically than other kids, I didn’t let that stop me from playing the things I enjoyed and loved.  I saw it as a challenge to do my best and to prove to them that I could compete.  It wasn’t until the 7th or 8th grade that I realized that most kids my age had surpassed me physically and I simply could not keep up.  No matter how hard I tried in team/individual sport activities, I could not produce the same results as other children my age.  My brother and I had been told that we probably had some mild form of muscular dystrophy but none of our doctors had a definitive answer at that time.  Because my parents were not affected with the disorder, Bethlem Myopathy was ruled out as it was thought to be a dominant only inherited disease.

After completing college, I began to notice I was having more difficulty climbing stairs.  I could manage the first five or six without an issue but I found that after those first few steps I needed a handrail to help me up the rest of the way.  As I moved into my later 20’s and early 30’s, a handrail was a must to navigate stairs.

I met the woman who would become my wife at age 35.  I explained to her that I had “some sort of neuromuscular disorder” and did not know what the future held for me physically.  In addition, because I did not know exactly what type of disorder had, it was also impossible to predict the affect on any children we might have in the future. One neurologist assumed there would be a 50-50 chance of our offspring being affected but our desire to start a family was very strong.  My beautiful daughter, Lauren, was born full term with no complications in February 2006.  Dr. Carsten Bonnemann examined Lauren in August of 2010.  At this time, my daughter does not show signs of muscle disease which is a huge relief but we remain cautious and continue to observe things that may require a re-examination by Dr. Bonnemann and his staff.

Today, I work with an exercise therapist on stretching and mild strength exercises once a week.  My job is a manager for a national industrial real estate company.

I do not use a walking aid but I can foresee that day coming as I have found getting around is becoming more arduous than even three years ago.

Despite all this, though, I thank God everyday that I have been fortunate to have had the chance to live, for the most part, a normal life.  My beautiful daughter is my daily reminder that I have so much to be thankful for.  When I see others afflicted with more severe forms of CMD, my heart goes out to them and their families and that is the reason why my family and I will continue to support the Cure CMD organization in hopes that one day a cure can be found for Bethlem Myopathy and other Congenital Muscular Dystrophies.

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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