When Luke turned 10, his father Karl started to notice that Luke was developing more slowly than other children his age. The next 6 years became an exhausting cycle of visiting different specialists, until a pediatric neurologist diagnosed Luke with myotonic dystrophy—a rare, progressive disease that impacts several systems in the body, including skeletal and cardiac muscle.
It takes time to get an accurate diagnosis unless you see a specialist who has come across myotonic dystrophy before. There are a lot of different symptoms of this condition, and it takes someone who has the specific knowledge and experience to put it all together. You have to persist and advocate for yourself and family to get the answers you need.
Karl, Luke’s father and caregiver.
Although Luke’s diagnosis ended the guesswork about his condition, it meant significant changes to his lifestyle. In high school, Luke ran cross-country; however, after his diagnosis, Luke soon chose to discontinue the sport as it was too taxing on his body.
For Karl, Luke’s diagnosis was devastating. He recognized the impact this condition would have on his son’s future, and it was painful to consider that Luke wouldn’t have the same opportunities as other people his age. Despite these feelings, Luke’s diagnosis allowed Karl to readjust his expectations and develop an optimal disease management and care plan.
Getting the diagnosis of myotonic dystrophy was life-changing—all of the sudden it connected all the dots. This diagnosis helped me to better understand how to support and be there for Luke and to make sure he is living as full a life as possible.
Karl
Today, in his early 20s, Luke suffers from muscle weakness, fatigue, memory challenges, and significant shifts in his eating habits. For Karl, it’s often a struggle to ensure that Luke meets his nutritional needs. Luke finds strength in the support of his family and is passionate about dedicating his time to help educate others about DM1 with the goal of advancing care for the entire community.
One piece of advice I would give to someone newly diagnosed with myotonic dystrophy is to not let it interfere with your life goals and to stay positive. Don’t let myotonic dystrophy weigh you down.
Luke, living with myotonic dystrophy