Cindee

My story began in 1997 with the birth of my son. He had very low tone and a weak cry. He was only able to come home because he could suck on a bottle. The doctors there were clueless and asked if there was anyone else in the family that had muscle weakness. I quickly told them no but my mom who was with me at the time told them my father did. I was stunned. He had never once mentioned it. Looking back it should have been obvious. He walked with what seemed at the time to be a slight limp. He would wait until we (my brother and I) would be inside a building with stairs before he proceeded to walk up them. At one point I saw him struggling with an item I thought was fairly light but bulky. He was sitting on the stairs trying to drag the item up the stairs by sliding on his bottom up each step. I offered to help and he yelled at me to go in my room.

After my son Zach was born my father went and had a muscle biopsy done to help figure out what was wrong with my son. He was told that he had central core myopathy. At 18 months my son had a feeding tube placement and so the doctors did a muscle biopsy at the same time. His test was inconclusive but we assumed he had the same thing. Since I had no symptoms I was told I was a carrier.

Zach received physical therapy and occupational therapy starting at eight months and walked at two and a half. During his younger years he was also sick for what seemed like every month with some form of respiratory problem. After he started walking, his myopathy kind of came to a standstill. He wasn’t getting any stronger but he wasn’t getting any weaker either. The older he got the less sickly he became. I became less worried about his myopathy and focused more on his other diagnosis of Autism.

Years went by and my dad started having heart problems. The doctors did not think it was tied in with his myopathy but to me that did not seem right since your heart is after all a muscle. I started doing research and could not really find anything on central core accompanied with heart problems so I felt reassured at the time that the doctors must have been right. My dad’s heart symptoms became worse and worse, so in 2013 I decided to bring my son to a cardiologist. Everything checked out okay. The doctor mentioned that since his muscle biopsy was inconclusive but they had since come out with a simple blood test to confirm this myopathy so he referred me to a geneticist for further testing.

The results came back negative for central core myopathy. I was in total shock. I decided to bring him to his neurologist to see what he recommended. He basically told me that I may never know and I decided that I was not going to accept that so back to the geneticist I went. They checked for many different diseases and the results came back with centronuclear myopathy and limb girdle. They also said that the dilated cardiomyopathy was attached to the CNM. They were leaning towards the CNM because my dad has a dilated cardiomyopathy. They recommended that I get tested next and that my son get seen right away to have his heart checked. Two years ago he was fine and now the cardiologist told me that his heart squeeze was at 28 which puts him at risk for stroke, heart attack and all kinds of scary things.

I decided to get checked out as well and mine was at 50 which is slightly lower than normal. He told me that I will start seeing a decline within the next few years and that they will monitor me until then. Around the same time the geneticist called to let me know my results were back. It came back with the same results as my son only in my case the limb girdle was benign. They concluded that my father was most likely misdiagnosed and that said that my son and I indeed had CNM. They went on to say that it is autosomnal dominant and that my other two kids have a fifty percent of having this as well which leads me to where I am now.