The new CBS film Extraordinary Measures, which opens in wide release tonight, describes a father's struggle to save his children from Pompe disease, a rare and often deadly metabolic disorder in which the body can't use its stored sugars properly.
KPIX-TV, the Bay Area CBS affiliate, aired a segment yesterday about a San Mateo family whose infant daughter, Valentina, suffers from the disease, which killed her identical twin sister.
In the story, Stanford geneticist Greg Enns, MD, who is also Valentina's doctor at Lucile Packard Children's Hospital, explains that the drug whose development is chronicled in the new film is strengthening Valentina's weakened heart.
More coverage of Enns' work on rare metabolic disorders is available in a Stanford Medicine magazine feature about mitochondrial disease.
Previously on Scope: Medicine on film