Three young siblings from a Los Angeles Fire Department family live with spinal muscular atrophy with progressive myoclonic epilepsy, or SMA-PME, a rare genetic condition that has reshaped their family's life. Emilie, Brodie, and Maggie Mae Vehling share the diagnosis.
A Career Cut Short, Then a Second Crisis
Vehling's own story began in May 2009, when he suffered a traumatic line-of-duty accident that broke his back and neck, leaving him partially paralyzed. He did not return to active duty and is now retired, according to the Fire Family Ladder Program, a nonprofit that connects children of fallen and disabled firefighters.
Years after that accident, the family faced an entirely separate ordeal when three of Vehling's children were diagnosed with SMA-PME. The condition is caused by ASAH1 gene mutations and affects only approximately 30 known patients worldwide, with no approved disease-modifying treatments currently available, according to Team Vehling. The disease causes progressive muscle weakness and seizures.
A clinical study published in February 2025 in Neurology Genetics, indexed on PubMed, found that SMA-PME symptoms typically appear in early childhood as muscle weakness before progressing to severe status epilepticus and respiratory failure. The disorder stems from recessive ASAH1 variants, underscoring why researchers describe the search for treatment as urgent.
Cedars-Sinai Supports SMA-PME Research
That urgency has drawn significant local backing. A $750,000 donation is supporting SMA-PME research, according to SMA News Today. The Los Angeles Firemen's Relief Association also provides financial and emotional support.
Dr. Michelle Allen-Sharpley is involved in Cedars-Sinai research on SMA-PME, where researchers are using patient-derived stem cells to study the disease.
A Family That Builds Support for Others
The Vehling family has not simply received help from the firefighting community; they have also built structures to support others facing similar trauma. Lillie Vehling is involved with the Fire Family Ladder Program, a nonprofit that aims to connect children of fallen and disabled firefighters through peer mentoring and planned community gatherings, according to the Los Angeles Firemen's Relief Association.
The Vehling family's story links a firefighter's line-of-duty injury with his children's rare diagnosis and ongoing research into SMA-PME.
