Seven years after doctors diagnosed Faye Cordon with juvenile dermatomyositis at age 5, a second opinion found she instead had Emery-Dreifuss muscular dystrophy type 2, her family said.
Six rounds of chemotherapy, home injections and a muscle biopsy failed to help during that period, and her mother said genetic blood testing at Great Ormond Street Hospital revealed the correct condition.
Christina Cordon said an earlier biopsy had suggested a congenital muscle disease but was overlooked, leaving the family to believe Faye would recover and to put normal childhood plans on hold.
Faye is now wheelchair bound, and her mother described the untreated muscular dystrophy as a "ticking time bomb" because it can also threaten her heart.