Researchers at the University of Rochester in New York seek patients diagnosed with Duchenne muscular dystrophy (DMD) who are interested in helping to develop disease-specific patient-reported outcome measures for future clinical trials. This study will help to determine the most critical symptoms of children, young adults, and adult patients with DMD, and as a result, . . .
Twin brother and sister Michael and Amy Schleicher’s story starts where a lot of kids’ stories do. They looked up to their big brother, Matt, and when he did something cool, Michael and Amy wanted to do it, too. In the case of the fateful summer that would point the twins in a long-term direction, . . .
Feb. 28 is Rare Disease Day, when the collective rare disease community raises awareness of the conditions with which we live and advocates for access to new novel treatments like Spinraza, the first FDA-approved disease-modifying drug for spinal muscular atrophy (SMA), a rare neuromuscular disease that affects people like 18-year-old Marley Robinson. Spinraza is making . . .
Young adults living with Charcot-Marie-Tooth disease: You can help in a new study. Allison Eveler, a senior occupational therapy major at Elizabethtown College in Pennsylvania, is conducting an undergraduate research study to determine the impacts of CMT on the social participation of young adults. Allison, who herself lives with CMT, recognized a need for research . . .
Growing up, Marc van de Rijn was always interested in medicine. After briefly considering a career working with computers, a sudden health challenge after his freshman year of college made him realize that instead of sitting behind a desk, he wanted to work with people and become a doctor. “After my freshman year, I suffered . . .
Ryan Farnsworth, 31, is passionate about spreading a positive message to others going through a tough time. Since receiving an ALS diagnosis in 2015, Ryan has made a conscious effort to maximize every moment of every day. As he has grown weaker, he has become even more determined to make a lasting impact on the . . .
Amin Lakhani is a 29-year-old man with CMT. After graduating second in his high school class of 700 students, getting two degrees from an Ivy League university and landing his dream job at Microsoft, he thought he had finally made it. But something wasn’t right because he felt completely alone. He hadn’t learned how to . . .
Bill Weis, a long time MDA supporter, recently met Robbie Ivey, a young man with DMD. Together, they used smart speakers and voice automation to outfit his bedroom and help this young man live unlimited.