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 Lesch-Nyhan syndrome (LNS). LNS is an X-linked disorder caused by a mutation in the gene, HPRT1, which plays a critical role in the body’s ability to process purines. With the recycling of purines involved in the production of uric acid, this deficiency or complete lack of function in the HPRT1 gene in individuals with LNS results in excess amounts of uric acid in the body. This buildup of uric acid has many toxic effects on the body, contributing to a variety of neurological and behavioral issues. Perhaps most notably, individuals with LNS suffer from self-mutilative behaviors that tend to manifest around the age of two or three.
Today, we are bringing on Michelle Lucas. Michelle Lucas is a 51-year-old carrier of LNS. She has been married for 26 years (27 on the 25th of this month) and has two sons with LNS, who passed away in 2010 (Daniel, age 14 & Keith, age 20). She loves to spend time with her husband and their two Saint Bernard’s. She founded the nonprofit organization Love Never Sinks and served as the CEO from 2013-2021. She continues to advocate for others with LNS, trying to bring awareness, togetherness, and hopefully one day, a treatment.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
