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:
Today, we are interviewing Jessica Stanley, a female patient with myotubular myopathy. Jessica was mis-diagnosed multiple times and ultimately found out her MTM diagnosis through genetic testing. She is currently pregnant with twin baby girls and has been contemplating testing for their carrier status in utero. Women patients and carriers of x-linked conditions not only find themselves with physical symptoms of their condition but also the mental load of making these tough decisions can be daunting. Jessica is a beautiful example of how community and staying positive can ultimately help bring women together, sharing their journey with each other.
Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out rememberthegirls.org.
