Three years ago Austen Eadie-Friedmann, 38, had a dynamic career in the pharmaceutical/biotech field working for a Fortune 500 company and living in exciting places such as New York City, Boston and Europe, with his husband, William DeGregorio.
The couple, now together for 18 years and married for five, loved their life traveling the world, sharing a passion for art.
Then the devastating diagnosis arrived.
Two days before Eadie-Friedmann’s 36th birthday, he was diagnosed with amyotrophic lateral sclerosis or ALS, a terminal, progressive nervous system disease that causes loss of muscle control and usually kills its victims within two to five years after diagnosis, due to respiratory failure.
“I was devastated. It’s not a diagnosis anyone would want to receive,” the Thompson resident said.
Not only was his professional life soaring at diagnosis time — so was his romantic life.
“We had a very exciting, interesting life,” Eadie-Friedmann said of husband DeGregorio. “We both enjoyed it.”
Formerly a runner, Eadie-Friedmann is now in a wheelchair and can’t move his body below the shoulders. He needs help eating, dressing, doing other basic daily living skills and relies on a machine to help him breathe more easily .
But despite it all — and assuming his time will run out before a cure is found — Eadie-Friedmann’s spirit and desire to help others is going full throttle.
Despite being physically drained each day from the disease, he works in a volunteer role at EverythingALS, based in California, as a patient advocate and industry adviser.
EverythingALS is a patient-focused nonprofit that brings technical innovations and data science together to support efforts from “care to cure,” as their mission states, for people with ALS.
In that volunteer role at EverythingALS, he advises patients and colleagues on how to best interact and connect with companies in the pharmaceutical and biotechnology industries.
Indu Navar, a technology entrepreneur and investor who helped found EverythingALS in honor of her husband who died of the disease, said it’s “profound” that Eadie-Friedmann brings a contribution as a former executive in the industry as well as that of a patient.
Coincidentally, the company Eadie-Friedmann was working for when diagnosed was working on a drug to cure ALS. Navar said caregivers and non-patients are often too “analytical” in their approach, while as a patient Eadie-Friedmann is in touch with the feelings of others who have ALS.
“He brings that perspective” and can empathize in his role as patient advocate and industry adviser for EverythingALS, Navar said. “It’s a disease that takes enormous courage as a human being to go through it,” Navar said.
Eadie-Friedmann said he knows he won’t live long enough for a cure, but if he can contribute, “some good can come out of the situation,” and he has “purpose.”
“I could wallow in despair, but what difference will that make?” he said. “It’s easy to throw your hands up and say this sucks. That’s not my mentality.”
Eadie-Friedmann said 10 percent of ALS is genetic and 90 percent sporadic. He has the latter, and researches have yet to find a cause.
“Until we truly understand how this is caused, it will be difficult to find a cure,” he said. Eadie-Friedmann had the first outward symptom in 2019 when he experienced weakness in his left knee after running. He had just landed a new job months before in 2018.
At first he wrote the weakness off as stress connected to the new job. But the weakness continued, and soon he was inexplicably falling.
He went to a doctor who sent him to a physical therapist, and after a few sessions the therapist recognized his condition wasn’t muscular-skeletal.
After a battery of tests, he received the news in September of 2019, recognizing the gravity of the diagnosis after years in the field and having family members in health care.
“I was devastated. It’s not a diagnosis anyone would want to receive,” he said.
His ALS progressed quickly. By Thanksgiving, he was using leg braces and a cane. By the new year in 2020, he was using a walker and by around June, he needed a wheelchair.
He gets through daily life with the unwavering love and support of DeGregorio.
“My husband is my rock,” Eadie-Friedmann said. “He put his career on hold to become my full-time caregiver. He’s the reason I can enjoy what little I have left of life.”
Eadie-Friedmann said he “threw myself into the job” after the diagnosis. But with the progression of ALS, he knew he couldn’t keep it up and shared his diagnosis with the company.
The company he worked for specialized in rare diseases and was working on a cure for ALS. So he stayed, but switched his role from human resources and team building to a role in which he gave colleagues and employees insight into diseases as an advocate by pulling in patient perspective on programming.
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“It was a rewarding experience to shift into that role, given my diagnosis,” he said.
Eadie-Friedmann was connected with EverythingALS through his former employer while in the advocacy role.
He said EverythingALS has a “strong connection to the community.”
He is also involved with a speech study through the organization, which aims to help understand how voice patterns change in the progression of ALS. He said amazingly there has been little to no change in the strength of his voice.
“When you have a disease that has so many symptoms, it’s hard to narrow down the exact progression,” he said.
His role at EverythingALS is in an operational capacity, he said.
“I’m very involved. You have to be choosy (about how to spend your energy). Day-to-day is incredibly exhausting,” Eadie-Friedmann said.