Episode 51: Myotubular Myopathy with Meghan Musante

Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls. This month, we are featuring myotubular myopathy (MTM). MTM is an X-linked genetic disorder characterized by moderate to severe muscle weakness and decreased muscle tone. Manifesting female carriers of an MTM1 mutation express a range of symptoms that vary in severity, but the following describe the general pattern seen across studies: Muscle weakness in upper and lower limbs  Muscle atrophy  Dyspnea  Muscle fatigue Cramping Calf enlargement  Wheelchair dependence Intolerance to physical activity  Contractures  Choking while eating  Vocal changes Today we are bring on Meghan Mustane to discuss her experience of being diagnosed a carrier with MTM. Meghan is an experienced communications professional working in Pharma and is currently on the board for Remember The Girls. She is a carrier of Myotubular Myopathy and always knew there was a chance she was a carrier from her mothers own journey in family planning and child loss. Meghan is a mother of two girls, age 14 and 9 and knows one day they will require testing to find out their own carrier status with the condition. The ethics of when to talk to your daughter and when to find out your children’s own carrier journey is always a debated topic in our community and one that is very personal and also very grey. Meghan is passionate about raising awareness for rare diseases and we appreciate her continued efforts and support inside Remember The Girls. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out rememberthegirls.org.