*This month in partnership with XLH Network*
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 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 functioning of bones and teeth. Most cases of XLH first manifest in childhood, with the presentation of bowed legs appearing as a prominent symptom. XLH impacts females in virtually the same way it impacts males.
Today we are chatting with Shannon Sharp. Shannon resides in Troy, Alabama with her husband and grandbaby. She has known of her condition essentially her entire life as her father and grandmother were both patients with XLH, though originally diagnosed with vitamin-D resistant rickets prior to genetic testing. Shannons first symptom of XLH was severe bowing of the legs along with fatigue and joint and bone pain.
Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out rememberthegirls.org.
