Ep. 60: Trina Stelly on Life as a Female with Dystrophinopathy

*This month in partnership with ⁠⁠PPMD* 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 Duchenne muscular dystrophy (DMD). Duchenne is an X-linked disorder characterized by progressive muscle weakening and is one of the most common life-limiting genetic conditions diagnosed in childhood. It is caused by a mutation in the DMD gene, which typically functions to produce a protein critical for muscle structure and function known as dystrophin. In individuals with Duchenne, this protein is absent, leading to the degeneration of muscle fibers over time and progressive muscle weakening. Duchenne is a multi-systemic condition, which means it affects many parts of the body including the heart and respiratory muscles, contributing to cardiology and breathing-related complications. Females carriers are usually not affected with Duchenne or Becker because they make enough of the dystrophin protein. However, they can have some symptoms of Duchenne, such as changes to heart function, mild muscle weakness, fatigue, or cramping in their muscles. Rarely, a carrier has symptoms that are as severe as those of a male with muscular dystrophy. The term “manifesting carrier” is often used to describe a woman who has some of the symptoms of a male with Duchenne. Carrier females have an increased chance of changes to heart function. Because a small percentage of carriers may have serious heart concerns, it is important for all women who are carriers and women who are at risk to be carriers to have regular heart evaluations, beginning in their late teens/early adult years and, if normal, repeated every 3-5 years. Today we are chatting with Trina Stelly. Trina is a wife and mom of three and and lives in south Louisiana. In her free time, she enjoy spending time taking care of her little farmstead and all of the miniature animals. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠⁠rememberthegirls.org⁠⁠⁠.