"Paul and Carly, two people who are living with myotonic dystrophy, are part of a support community for people with myotonic dystrophy and their families near their hometown. Both Paul and Carly had symptoms of myotonic dystrophy for years before they received their diagnoses. Myotonic dystrophy is the one of the most common types of muscular dystrophy, characterized by progressive muscle weakness that can affect many parts of the body, including the heart and lungs. Like other rare diseases, it can take years of going to many different doctors to get the right diagnosis.
The diagnosis explained many of the seemingly unconnected symptoms that each had been dealing with for years. “I probably had some symptoms starting around 18, like hand cramping. Back then I used to just sort of stretch my hands out and go, and not think much about it. I was very active.” says Paul. He started having heart trouble around age 26, but nothing showed up on the tests until one night in his mid-20s when he ended up in the emergency room with an extremely high heart rate. “During one of the tests, my heart stopped, and they brought me back. The doctor didn’t know what was causing it, but they decided to put in a defibrillator.” Six years later, at the age of 32, Paul received his myotonic dystrophy diagnosis.
Myotonic dystrophy affects many parts of the body, so both Paul and Carly need to see many different types of doctors on a regular basis. Even though Paul and Carly are both adults, their fathers often come to their appointments with them and help them coordinate their care. “You have to have someone who knows everything and has been to every appointment,” says Chuck, Carly’s father. For patients with rare diseases, caregivers often become experts in the disease..."Muscular Dystrophy
How common each type of muscular dystrophy is in the population.
