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 Angi Dunham to share her story with PMD. Angi Dunham is a wife to Brandon, mom to Kathlyn and Brant, bonus mom to Kailey and Kendall, daughter, sister and business owner. Married for 13 years this coming July, the family welcomed their first child together, their daughter Kathlyn 2 days before their 1 year anniversary and decided to grow by one more 8 years later with Brant and when he was 13 months was diagnosed with Pelizaeus-Merzbacher disease.
Carrier Connections is sponsored by Horizon Therapeutics and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
