Four-year-old Sophie Kim of Sunnyvale, Calif. has a form of muscular dystrophy so rare that an experienced pediatric neurologist might see her diagnosis only once in a lifetime. The disease - Ullrich congenital muscular dystrophy - results in progressive muscle weakness that will likely cause Sophie to lose the ability to walk within the year.
But Sophie and others should benefit from the publication of a new standard-of-care document for children with congenital muscular dystrophies, a group of inherited disorders that have until now had no standardized care recommendations. The new document, whose development was led by Sophie's doctor, Lucile Packard Children's Hospital pediatric neurologist Ching Wang, MD, PhD, appears in the December issue of the Journal of Child Neurology.
The document gives specific guidance - based on the latest research - on how to handle CMD patients' varied medical needs, which could include physical therapy or corrective surgery to maintain mobility, a feeding tube to support nutrition and respiratory support to aid weakened breathing muscles.
As explained in a press release I wrote, the new guidelines will advance the science of CMD treatment and make it easier for patients to obtain insurance coverage for their treatment. But most important, providing evidence-based care for children like Sophie will give them more opportunities to just be kids. And perhaps for that reason, Sophie's mom told me she and her family are "super excited" about the document.