When Kennedy was three she had slight difficulty climbing stairs and fell a lot. She also walks on her tiptoes. It was hard to let doctors see this in an office setting. We started out ruling out a slight cerebral palsy, also wore AFO’s thinking she was just a tippy toe walker. I was told she had tight heel cords.
After pursuing it and having multiple office visits we had a CK test that was slightly elevated. This initiated an EMG where they stick a big needle in your thigh and it showed severe muscle weakness. The next step was a muscle biopsy. The surgeon talked of how great and pink the muscle was and how good her muscle contractility was and how he didn’t have microscopic eyes but he would be surprised if it showed anything.
It turned out to be a “rare and interesting case” as the muscle biopsy was interpreted as mitochondrial myopathy. We were diagnosed by age 4. We thought she just had generalized muscle weakness and she can’t skip, jump, hop, run, or climb without difficulty or falling. Otherwise, she looks and acts normal in every way.
Since then, we have jumped through hoops testing for all kinds of rare muscular dystrophies. We ruled out calpainopathy, caveolinopathy, Rigid Spine muscular dystrophy and we finally got our diagnosis of Bethlem myopathy.
This is what we have learned about Bethlem myopathy. It is very rare with only about 100 known cases. It causes contractures of ankles, knees, elbows and fingers. Kennedy will most likely have to have a heel cord surgery eventually to help her walk better and not fall. The heart is NOT affected. The diagram can be and she should be monitored for flu/pneumonia because she may not have enough muscle strength to cough anything up. In the fifth decade of life about 2/3 of patient require walking aids like canes or wheelchairs.
We are not sure of the impact of this finding on my other kids or their kids yet. I do know Kennedy has a 50/50 chance of passing it on to her kids. This is a slowly progressive MD so if you have to have one I guess this would be a better one to have. Even though this all sucks…we all know it could be worse.
Hopefully now that I have a name and some closure I can focus on what best helps her with all of this. We do weekly physical therapy and occupational therapy that I feel has helped her to swing, hop and skip better. She cannot over do any physical activity as she fatigues easily. She also cannot walk long distances. We have an adaptive stroller for this. After years of testing we finally got our diagnosis changed to Bethlem myopathy December 2010.