Outwardly, Greigh seemed to be a healthy baby. But internally, he carried the gene of a catastrophic muscle disease.
Born with spinal muscular atrophy (SMA), a neuromuscular disease that devastates the body’s ability to move, Greigh was likely to spend his life in a wheelchair. His blood sample flagged the presence of a mutated gene, tipping off doctors that he had the disease.
Tests predicted that Greigh would develop Type 2 SMA, a less severe form of the disease than Type 1, which untreated is usually fatal within 18-24 months of birth. Having Type 2 was a small consolation. It isn’t lethal, but typically patients never walk.
Now 3 years old, Greigh — who was Children’s Hospital Los Angeles’ first patient to be identified with SMA by California’s Newborn Screening Program — has exceeded all expectations.