CBS 2: Siblings Face Rare Disease as Cedars-Sinai Races for a Cure
CBS 2 recently interviewed Michelle Allen-Sharpley, MD, PhD, director of the Pediatric Neuromuscular Program at Cedars-Sinai Guerin Children’s, about Cedars-Sinai-led stem cell research that could stop or reverse an extremely rare, life-threatening genetic disease affecting three siblings.
Emilie, Brodie and Maggie Mae Vehling have spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a condition that often goes unnoticed at first because symptoms typically do not appear until late childhood. Over time, however, the disease can cause muscle weakness, mobility challenges, cognitive decline, speech impairment, hearing loss and seizures.
Allen-Sharpley, a principal investigator at the Cedars-Sinai Board of Governors Regenerative Medicine Institute, explained to CBS 2 reporter Kara Finnstrom that the disease is caused by “a change in a single gene.”
She is leading a research team working to accelerate an innovative gene therapy that could modify the siblings’ stem cells so they produce a missing protein their bodies need. The approach could potentially stop—or even reverse—the progression of their disease.
A similar stem cell approach has proved successful in treating another rare genetic condition, Allen-Sharpley told Finnstrom. That success is giving the Vehling family hope that the research could help their children—and, ultimately, other patients.
The family has raised $2 million toward their $6 million goal to propel Allen-Sharpley’s research.
The children’s mother, Mollie Vehling, expressed deep gratitude for the compassionate care and support her children are receiving from the Cedars-Sinai team.
“We call them just wicked smart, and we could never imagine finding anyone who would care more,” she said.
To support SMA-PME research at Cedars-Sinai, visit https://support.cedars-sinai.edu/TeamVehling.
Watch the complete segment from CBS 2.