An Iowa woman fights the aggressive ALS that claimed her twin sister

Jaci Hermstad, a young woman from Iowa, loves riding her sorrel gelding Bud and meeting new people. A country girl with the gift of gab and a degree in agricultural science, she landed her dream job of field marketing for a company selling livestock feed. Unfortunately, Jaci has a rare and dangerous form of ALS, caused by the same mutation that took her twin sister years ago.

ALS, or amyotrophic lateral sclerosis (also known as Lou Gehrig’s disease), is a rare neurodegenerative disease that causes patients to lose muscle mass and function. There is no cure for ALS, and in typical cases the disease starts in patients who are 50 or 60 years old. Jaci’s mutation is very rare, and causes disease onset much soon with symptoms progressing much more swiftly.

“These are tough issues,” said Dr. Lauren Black, Distinguished Scientist with Charles River’s Scientific Advisory Services, in our recent Sounds of Science podcast. “Jaci’s mutation was found in a small subset of ALS patients. They usually succumb sadly to ALS within a year of diagnosis.”

Alex, Jaci’s identical twin sister, died of the disease eight years ago at age 17. That terrible blow was compounded by the family’s fear that Jaci could carry the same rare mutation that claimed Alex, though they hoped for the best. Sure enough, on February 14, 2019, eight years to the day after Alex died, Jaci got her diagnosis.

“For two days all we did was cry,” said Lori Hermstad, Jaci’s mother. “Jaci, all she did was say, ‘I’m so sorry. I’m so sorry. You’re going to have to bury another child.’ I think she said she was sorry a thousand times in those two days. She knows what we’ve lived through without Alex. It was so devastating.”

Two days later, according to Lori, their lives changed again when they were given a glimpse of hope: a drug was already partially in development for Jaci and Alex’s exact mutation. With the help of Dr. Black and ALS specialist Dr. Neil Shneider at Columbia University, the Hermstad’s were put in contact with the drug’s developers at Ionis Pharmaceuticals.

Between Jaci’s February diagnosis and the June 11th administration of her first dose, there was a wild frenzy of work and regulatory negotiations to get the treatment approved. Much like the case of Mila Makovec, creative workflows were developed with the help of Charles River to satisfy enough safety testing to get the drug approved by the FDA just for Jaci.

“It was an act of considerable effort on the part of the patient advocacy group, Project ALS, the head of Columbia University’s ALS Center Dr. Neil Shneider, the company who originated the drug, and all of us that were helping around the sites trying to support, like an exoskeleton, including Charles River,” said Dr. Black. “I was helping with the regulatory strategy and trying to make sure that the drug that was chosen was actually appropriate to the most expedient animal model. So as a result of that, we were able to put together a very lean and mean IND for Jaci and get her approved through the FDA.”

According to Jaci’s Facebook page, her physical therapists are noticing improvement. She will travel to Minneapolis for more infusions while her doctors and family anxiously track her progress.

“We have the best, best, best neighborhood,” said Lori Hermstad. “So far, everybody has been so good to us. People just love Jaci. They just love her. She’s infectious, I guess. We’re blessed for all the love.”