A scientist who watched ALS kill his mother in nine months and claim both sisters is betting his life on experimental spinal infusions that may rewrite the rules for one of medicine’s most merciless diseases.
Story Snapshot
- Jeff Vierstra, 41, carries a rare FUS gene mutation that has killed family members across five generations, typically in their late 30s or early 40s.
- He began receiving experimental gene-silencing infusions in 2020 before symptoms appeared, a first-of-its-kind prevention attempt for familial ALS.
- After more than three years of treatment, his early muscle abnormalities have normalized, and he remains symptom-free, defying his family’s deadly pattern.
- His sisters Erin and Leigh started the same treatment after symptoms began but both died, highlighting the critical importance of early intervention.
- Columbia University researchers are expanding trials of ulefnersen, the antisense drug that silences toxic FUS protein production in the brain and spinal cord.
When Your DNA Holds a Death Sentence
Jeff Vierstra grew up knowing his genetic legacy read like a mortality chart. His mother died of ALS when he was two years old, succumbing in just nine months after her first symptoms. Her three siblings followed the same trajectory, all dying in their 30s and 40s.
Genealogical records traced the pattern back to the late 1800s, a relentless inheritance that turned family trees into timelines of tragedy. The culprit: a mutation in the FUS gene that produces toxic protein aggregates, strangling motor neurons and transforming healthy adults into prisoners of their own bodies within months.
Racing Against Biology’s Clock
ALS typically kills within two to five years of diagnosis, but FUS mutations accelerate the timeline brutally. This rare variant accounts for roughly one percent of familial ALS cases, which themselves represent only five to ten percent of all ALS diagnoses.
Dr. Neil Shneider at Columbia’s Eleanor and Lou Gehrig ALS Center developed ulefnersen, an antisense oligonucleotide from Ionis Pharmaceuticals, after mouse studies demonstrated that silencing the FUS gene delayed neuronal damage.
The first human patient died about a year into treatment, but an autopsy confirmed the drug reduced toxic FUS protein without harmful side effects, enough evidence for the FDA to approve expanded access.
The Gamble on Presymptomatic Treatment
Summer 2020 brought the Vierstra siblings to Columbia. Sisters Erin and Leigh enrolled after biomarkers and EMG tests showed their disease was stirring. Jeff tested positive for the mutation but had no symptoms, making him an unprecedented case: the first person to attempt preventing FUS-ALS before it announced itself.
His decision came from watching his family’s pattern and a serendipitous meeting with Columbia researchers at a 2019 ALS conference in Barbados. The treatment requires regular spinal infusions, a commitment that demands both courage and hope when you feel perfectly healthy but know what lurks in your genes.
When Timing Separates Life From Death
Three trajectories emerged from the same treatment. Erin received infusions for roughly three years before ALS progression claimed her life. Leigh lasted four years on the drug before dying from an unrelated head injury; her disease slowed but was not stopped. Jeff’s EMG showed abnormalities at baseline that normalized after one year of treatment.
More than three years into his infusions, he remains symptom-free at 41, actively working as a scientist, skiing, and traveling. The difference appears stark: his sisters started after symptoms began; he started while motor neurons were still intact. That window may determine whether ALS becomes a death sentence or a manageable chronic condition.
Beyond One Family’s Fate
Columbia published results from the first twelve expanded access patients in May 2025, showing measurable FUS reduction. Those patients have transitioned to an Ionis-sponsored trial as research expands through the Silence ALS initiative, which seeks participants with other genetic ALS variants for personalized therapies.
Shneider describes the work as potentially transformative, aiming to make ALS liveable rather than terminal. The implications stretch beyond rare FUS mutations to the ninety percent of ALS cases that appear sporadically, where similar gene-silencing approaches might apply.
Vierstra’s normalized biomarkers offer proof that intervention before symptoms can alter disease trajectory, a concept that challenges how medicine approaches neurodegenerative disorders.
Scientist whose mother and sisters died of ALS complications hopes experimental treatment will save his life https://t.co/9PQCDmuZYL
— CBS News (@CBSNews) April 5, 2026
The Lease on an Uncertain Future
Vierstra describes the treatment as giving him a lease on life, allowing him to plan futures his mother and sisters never imagined. He has outlived the age at which his family’s genetic curse typically strikes, each symptom-free day a small victory against inherited fate. The treatment is not a cure.
His sisters’ outcomes demonstrate that starting after neuronal damage begins may only slow progression, not halt it. But his case suggests presymptomatic intervention might prevent onset entirely, a possibility that reframes genetic testing from delivering verdicts to enabling action.
For families watching ALS consume their loved ones, this research offers something medicine has struggled to provide: genuine, evidence-based hope rooted in mechanisms rather than miracles.
Sources:
Jeff’s Story: Defying a Family History of ALS Through a New Drug Trial – Columbia Doctors
The FUS Involved in ALS – UTMB Health MD News Podcast
