At the age of 11 I started to get chest pains when running, within a few weeks I was getting breathless and fatigued from the simplest exertion, just climbing the stars had me flopping onto my bed to rest. As an active child this had me concerned. After explaining what was happening to my parents they took me to my local GP. Flash forward a month and I had been referred a heart specialist in London and after a few appointments was admitted for a week of tests including a heart biopsy, as a child who’d rarely even had a cold until that point this was a daunting experience. My parents met with the consultant at the end of the week whilst I was taken to the playroom, while later I was called back to speak with the nurse on my own (my parents couldn’t bring themselves to tell me), she told me I needed a heart transplant. I remember it well, for some reason I was more curious than scared. We went home to wait. 3 weeks later at 1 in the morning we received the call to tell us they had a heart, we were driven to the hospital and by the next day I had had my heart transplant and was in recovery.
The year post transplant was full of new challenges, my heart was fine but I’d started struggling to walk. The doctors had idea what was happening. Another year went by in which my muscles were weakening, including my diaphragm. I had started needing a wheelchair to go long distances, I’d developed scoliosis and now also needed a ventilator to breathe at night, no tests could give us an answer. By the age of 15 I was reliant on a powerchair to go anywhere, we had a stairlift and I could only manage a couple of steps at most. Still no clue what was happening, but my condition was deteriorating. It was purely by chance that my condition was finally given a name. My neurology consultant was attending a conference on something completely unrelated, he got talking to the consultant sitting next to him and the got talking, the other consultant mentioned a case which sounded a lot like mine. We send off my bloods for testing and the results showed I had the same condition, we finally had an answer! I was the 6th person in the world to be diagnosed with Myofibrillar Myopathy bag3. Unfortunately my condition is incredibly aggressive, it’s another form of muscular dystrophy and there is nothing that can be done to stop its progression. Since then I have had a tracheostomy fitted as I am reliant on my ventilator 24/7, I’m also now wheelchair dependent.
I’m just happy to finally have a name and a reason for this condition. It seems like a miracle set of coincidences led to that encounter.