Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females. This month, we are featuring Pelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked condition affecting the brain and spinal cord caused by mutations on the PLP1 gene. It is a type of leukodystrophy, which means it involves abnormal development of white matter in the brain. Since PMD is an X-linked disease, carriers have a 50% chance of passing the condition onto their children. Additionally, some carriers may experience neurological symptoms, particularly if they have a nonsense or null mutation.
Today, we are bringing on Esther Hutson to share her story with PMD. Esther is a Christian woman and a mom of 3 amazing kids. She has used her background in childcare to be a stay at home mom now focusing on her children whom she also homeschools. She loves crafting and spending time with friends when she can.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
