Charlotte Jordan’s rare and deadly genetic disease went undiagnosed by several physicians until age 3½, when CHOC specialists in the division of metabolic disorders diagnosed her with glycogen storage disease 1a. Charlotte’s liver can soak up and store glucose, but not release it effectively. Without treatment, the abnormally low content of glucose in her blood can lead to life-threatening complications. Her very rare disorder requires around-the-clock maintenance, including regular visits with Charlotte’s doctor, Richard Chang, M.D., and his team.
Charlotte’s family was inspired to give back to the division of metabolic disorders as a special way of saying “thank you” for her treatment from Dr. Chang.“The entire team does their job with such grace and care that it’s almost overwhelming,” says Lindsay Jordan, Charlotte’s mother. “It’s a difficult disease. I don’t know how any parent who has a child with a serious illness can get through it without having someone like Dr. Chang in their corner.”
Metabolic disorders are an area of medicine that receive relatively little funding because the disorders are so rare. “The Fry family’s generous giving helps pay for a full-time nurse practitioner to educate CHOC staff members about metabolic disorders,” says Dr. Chang. “A gift like this allows CHOC to truly care for kids in ways that otherwise wouldn’t be possible.”
“Charlotte is thriving, happy and healthy as we can hope for, and that makes my husband and me, as well as my parents, very grateful,” Jordan says. “We’re lucky to have Dr. Chang and the entire metabolic team in our lives.”
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