For Lindsay Jordan, it was a mixed blessing when her daughter Charlotte was diagnosed with glycogen storage disease type 1a.
On one hand, the California mother finally knew why her 3-year-old little girl had been struggling to thrive since birth. At the same time, she faced the sobering reality that Charlotte had a rare genetic disease that could be fatal if not properly treated.
“It was a surreal experience, but I knew she’d been sick,” Jordan said.
Little did she know that Charlotte’s condition would take her to the other side of the U.S. for treatment and inspire her family to donate $1 million to UF to help find a cure for glycogen storage disease type 1a, also known as GSD 1a.
The Fry Foundation, which Lindsay Jordan’s parents, Stephen T. and Cynthia Fry, created, donated the money to establish The Charlotte’s Cure for Type 1a GSD fund. The money will support research geared toward finding a cure for the disease.
“Their gift is the biggest in the history of the program,” said David Weinstein, MD, MMSc, a professor of pediatrics and director of the UF Glycogen Storage Disease Program. “It allows me to focus on some of the programs we’re working on, including gene therapy.”
The UF GSD program is the largest of its kind in the world for care and research for the liver forms of GSD, such as type 1a. It follows more than 425 patients from 37 countries and all U.S. states.
GSD type 1, which affects about one in 100,000 children, impacts the body’s ability to correctly store and use sugar between meals.
After Charlotte was diagnosed with GSD 1a at her local hospital in California, she still struggled from complications related to the disease.
Charlotte met with Weinstein in November 2011 and thrived under his care. Now 6 years old, she visits him annually.
“He could have dedicated himself to anything and for him to pick this little–known disease and try to make a difference for these kids is amazing,” Jordan said.