“She would spill her milk at dinner and we’d think, ‘oh, you’re so clumsy,’” said Mollie.

Months later, when the episodes became more frequent and severe, the Southern California family would learn Emilie, now 19, was experiencing myoclonic seizures, an initial symptom of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), an extremely rare, life-threatening pediatric disease. Soon afterward, cheek swab testing revealed that two of Emilie’s siblings, Brodie, 18, and Maggie Mae, 16, also had the genetic disease.

“There have been some very low times,” said Brodie. “This disease has hit me really deep, but I know that the doctors are doing their best to help us.”

There are only 31 diagnosed cases of SMA-PME worldwide. Three of the five known U.S. cases are in the Vehling household. The disease is caused by a mutation in the ASAH1 gene, which leads to an enzyme deficiency that stunts the critical breaking down of fats that control cell growth and survival, as well as prevents the recycling of vital cellular building blocks.

A research team led by Michelle Allen-Sharpley, MD, PhD, is in the early stages of working on a potential stem cell treatment to replace the missing enzyme using the patient’s own cells. Allen-Sharpley, director of the Pediatric Neuromuscular Program at Cedars-Sinai Guerin Children’s and principal investigator at the Cedars-Sinai Board of Governors Regenerative Medicine Institute, said she’d never encountered a family like the Vehlings.

Because Mollie and Derek unknowingly carried a rare recessive gene mutation associated with the disease, none of the family knew the children were at risk. The diagnoses came only after symptoms appeared during adolescence.

SMA-PME causes progressive neurological and muscular decline. Symptoms can include muscle weakness, mobility challenges, cognitive decline, speech impairment, hearing loss and seizures. To help control their recurring seizures, Emilie and Brodie have undergone placement of vagus nerve stimulation devices.

Maggie Mae’s seizures are often triggered by sounds. “I have to wear earplugs because noises or voice levels can cause my seizures,” said Maggie Mae. “I drop things or fall when I’m walking and my whole body just jerks.”

At 21, Lillie is the eldest child and the only sibling not diagnosed with the disease. She hopes to be a source of comfort and security for her siblings.

“I’ve had to learn a different way of showing up,” Lillie said. “Things most people treat as background noise—a flight of stairs, a morning workout, the simple act of walking outside, carry a weight for me now and witnessing what my siblings have to endure has made the ordinary feel precious in a way that is hard to articulate.”

“I feel like this is my calling,” Allen-Sharpley said. “The Vehlings came to me looking for hope, in a situation where no specific treatment exists. I want to help them, and every child and family facing this devastating disease.”

The Vehlings said they rely on God, the specialists at Cedars-Sinai, and family movie nights as they cling to optimism that medical advancements will one day restore their children’s health.

“Our faith, our family are just so incredibly strong,” said Mollie. “Derek and I are inspired by our children’s resilience.”

Derek added, “We need the best doctors in the world and Cedars-Sinai is the best. We believe this is where the research and cure are coming for the whole world.”

Cedars-Sinai is one of 46 institutions in the U.S. designated a Rare Disease Center of Excellence by the National Organization for Rare Disorders.

“Although each rare disease affects a relatively small number of individuals, collectively, rare diseases impact millions of people worldwide,” said Joyce So, MD, PhD, chief genomics officer at Cedars-Sinai. “Advances made in rare disease research at Cedars-Sinai can generate broader scientific insights that will inform our understanding of more common conditions, which in turn accelerates innovation across medicine.”

The Vehlings are turning their personal journey into action by advocating SMA-PME research at Cedars-Sinai. They’ve launched a peer-to-peer fundraising campaign in hopes of raising $6 million for Allen-Sharpley’s research. They’re close to the $2 million mark, largely through donations from family, friends and others inspired by their story.

Supporting the cause has become a mission for many in the Los Angeles firefighter community. Derek, a retired L.A. firefighter, has seen former colleagues rally around the family.

The Widows, Orphans & Disabled Firefighter’s Fund of the Los Angeles Firemen’s Relief Association donated $750,000 to support SMA-PME research at Cedars-Sinai. The Los Angeles Retired Fire & Police Association also generously donated.

“Our firefighting community takes care of its own,” said Christopher Stine, president of the Los Angeles Firemen’s Relief Association Board of Trustees. “By supporting Dr. Allen-Sharpley's research, we hope to make a difference for Emilie, Brodie and Maggie Mae, and other families faced with this devastating disease.”

To support SMA-PME research at Cedars-Sinai, visit https://support.cedars-sinai.edu/TeamVehling.

Read more from the Cedars-Sinai Newsroom: Cedars-Sinai Named Rare Disease Center of Excellence