Walter was referred to KidsAbility, a wonderful organization in Guelph, Ontario that helps kids reach their communication, social, physical and behavioral goals. A physiotherapist who worked with Walter, said that she too believed the initial diagnosis was wrong. She suggested he be seen by a developmental pediatrician at McMaster Children’s Hospital in Hamilton, Ontario.
Erin agreed to the consult which led to a series of tests, diagnosis by Dr. Mark Tarnopolsky, and the rewriting of Walter’s future. After blood work, a muscle biopsy, MRI, CT and genome sequencing, it was confirmed that Walter had Leigh syndrome resulting from a spontaneous mitochondrial DNA mutation. He was two-and-a-half years old.
Erin headed back to her computer to gather more information after the second diagnosis. What she read, scared her. “It didn’t take long to learn,” Erin recalls, “that Leigh’s was one of the really bad mitochondrial diseases.”