The story of Chelsey
At the age of 3 I almost lost my life to a muscle disease that was pretty uncommon in children. Rhabdomyolysis is the breakdown of muscle tissue where protein becomes released into the bloodstream and passes through the kidneys. The deadly thing about it is protein is toxic in the bloodstream and it blocks up the kidneys. At the age of 3 that’s exactly what happened. It took the doctors days at Childens Hospital in New Orelans to figure out what was wrong, but with prayers they had a diagnosis and a treatment plan. I stayed in the hospital for 3 weeks because my levels were in the 300,000s (normal levels are below 180 one-hundred eighty). I had to go through physical therapy to learn how to walk again. Fast forward 18 years later. I had just turned 21 and was about to start my last year of nursing school and the unimaginable happened, I had a relapse. The doctors said that I would probably go through my life not having another episode. Knowing my history my parents figured out quickly what was going on. Sure enough my levels were in the 22,000s and 6 hours later they jumped to 42,000. With not much to do the doctors just pumped me with fluids and medication to keep me comfortable. That hospital stay was 9 days long and took me almost 2 months to recover. That episode was followed by weekly doctors visits and many small relapses. Many doctors told me they didn’t have any answers because all the tests they were running were coming back negative. After many small episodes I had another severe episode but my levels peaked at 26,000. I had to make a tough decision that year and switched majors. In the meantime I found a geneticist who worked many many hours to find a diagnosis. After 23 years at the age of 26 I had a diagnosis but it had to be created because there is no other person that has been diagnosed. Genedx found that both of my parents were carriers for the exact same disease which they named Autosomal Recessive Acute Recurrent Myogobinuria or ARARM for short. In my gene sequence I am missing about 10 strains of my gene sequence. What this does is causes and episode of Rhabdo when my body is trying to fight off infection. The strange thing is it’s not every time I get sick, which I thank God for. Just 6 months after the diagnosis I had a minor relapse but I’m on the road to recovery. I hope this story helps someone else who may have a similar experience.