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 X-linked hypophosphatemia (XLH). XLH is a genetic disease caused by mutations in the PHEX gene. These mutations cause bone cells to secrete increased concentrations of a hormone responsible for inducing phosphate excretion in the kidneys, ultimately resulting in a deficiency of phosphate in the body. This can cause widespread issues throughout the body as phosphate plays an essential role in the proper function of bones and teeth. Most cases of XLH first present in childhood and males and females are considered to be equally affected.
Today, we are bringing on two women impacted by XLH: Susan & Kelly.
Susan Faitos, L.M.F.T, has been the Executive Director of The XLH Network for the last 4 years. She attended her first Network event in 2015 and immediately started volunteering, then became a board member, and then landed in her current position. Born with a spontaneous case of XLH, Susan is passionate about advocating for families and increasing awareness about all rare diseases.
Kelly Rushing is an avid quilter, crafter, and people person. She's been married for almost twenty-one years to the most supportive guy on the planet, Ricky. She lives in East Alabama, after a move from Texas. She is the sixth (or possibly 7th) generation XLHer in her family. She's a dog mom of four very spoiled rescue pups. At forty-one, she is a returning college student, pursuing a degree in marketing and communications. She hopes to continue work in the rare disease community.
Learn more about the XLH Network: xlhnetwork.org!
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
