September 2019: Carrying the Message to Others

tags: Center for Leukodystrophies

Dr. Jacqueline Stone: Today I am joined by Julie Cohen, Genetic Counselor, with Kennedy Krieger Institute.

Julie Cohen: Imagine losing your father at a young age to an incurable genetic disorder and then finding out that you carry the same genetic condition. I’d like to tell you about a young woman named Taylor who’s a junior in college and who didn’t resign herself to this fate. She took action and has made a remarkable impact. I first met Taylor when she was 12 and she continues to inspire me. Taylor’s story began when she was 3 and her father had developed Adrenoleukodystrophy, or ALD, and he died two years later. The disease has also taken the lives of others in her family. ALD is a hereditary neurologic disease caused by an abnormal gene on the X chromosome. Males born with this will always develop the disease and in the severe form they will die in childhood. Women can carry the abnormal gene without knowing it. By age 10, Taylor had learned of the full implications of being a carrier. The 50% chance of passing the disease on to her future children and the possibility of developing symptoms herself. Taylor and her family raised money to support ALD research at Kennedy Krieger. Although there is currently no cure for ALD, if the disease is identified early, boys can receive life changing treatment.

Taylor holds a check that shows the amount of money she has raised to support ALD research at Kennedy Krieger

When Taylor was 12, she learned that the institute had developed a new born screening test for ALD. Taylor wrote a letter to her state senator asking him to introduce an ALD newborn screening bill and she testified in front of the legislator. Based on her advocacy, the bill passed. Taylor also became passionate about helping others in her similar situation. Growing up, Taylor sometimes felt isolated because of her carrier status. Not enough attention is paid to the mothers, sisters and daughters who carry these conditions. Taylor decided to change that and she found the non-profit organization called Remember the Girls. The mission is to provide support and advocacy to women who are carriers of ALD and other X linked conditions. Taylor’s plans for the future include continuing her advocacy work and helping others who are impacted by rare diseases. While Taylor misses her father terribly, these experiences have empowered her, helped her find her voice and given her direction in life.

Dr. Jacqueline Stone: Inspiring moments is produced for WYPR by Kennedy Krieger Institute. I am Dr. Jacqueline Stone.