The 2022 MDA National Ambassador and patient with Bethlem myopathy spoke to the critical need to improve diagnosis delays in neuromuscular disorders and effective communication between patients and their physicians. [WATCH TIME: 2 minutes]
WATCH TIME: 2 minutes
“Before I was diagnosed, I felt like I didn’t fully know myself, and the day I was diagnosed, I felt like I was formally introduced to myself—at 44 years old. Not everyone waits 44 years for a diagnosis, but a lot of people wait a really long time. Those years are long, and you don’t really stop thinking about it. It’s always in the back of your mind.”
Each year, the Muscular Dystrophy Association (MDA) selects national ambassadors to represent the thousands of people living with neuromuscular disease and inspire the community through their personal stories. At the 2022 Muscular Dystrophy Association (MDA) Clinical and Scientific Conference, March 13-16, in Nashville, Tennessee, one such ambassador was part of the keynote address: Amy Shinneman, a patient with Bethlem myopathy. She spoke at the opening ceremony of this year’s meeting and presented the first annual MDA Legacy Award for Excellence in Clinical Research to Carsten G. Bönnemann, MD, senior investigator, Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS.1
Shinneman, a patient with Bethlem myopathy, a form of muscular dystrophy, shared her story and journey as a patient at the meeting, detailing the long wait of 44 years for her diagnosis despite symptom onset occurring at birth. Her diagnosis came in 2018, after undergoing genetic testing for her disease, which has an incidence rate of just 0.77 per 100,000 individuals.2
In addition to increasing the patient role in decision making and conversations about treatment, there has been a push in recent years to increase newborn screening and cut down on diagnosis delays. Shinneman sat down with NeurologyLive® at this year’s meeting to offer her insight into her experience with diagnostic delay and its impact on her life. She also shared her thoughts on the importance of the physician-patient relationship and how effective communication between the two can improve the paradigm of clinical care.
For more coverage of MDA 2022, click here.