*This month in partnership with Choroideremia Research Foundation*
Our Carrier Connections program features a different X-linked condition each month to increase awareness of X-linked conditions and how they impact the lives of women and girls.
This month, we are featuring choroideremia (CHM). CHM is an X-linked disorder caused by mutations in the gene CHM, which produces a protein that plays a critical role in the cell’s ability to transport proteins and organelles within and outside of the cell. When this gene is dysfunctional, the cell can no longer support this protein escort ability, resulting in premature cell death, primarily in the eyes. Typically, this condition is characterized by progressive vision loss. These symptoms may begin at any age, but tend to onset between childhood and adulthood. Females carriers of CHM have been proven to experience a spectrum of symptoms, ranging from mild to severe retinal degeneration.
Our guest today is Michelle. She is a mom of two incredible boys with CHM, doing whatever she can to find a treatment.
Carrier Connections is sponsored by Kyowa Kirin and Amgen.
For more information about our organization, check out rememberthegirls.org.
