In January, Lisa Stockman Mauriello, 51, learned she had an aggressive form of amyotrophic lateral sclerosis (ALS) with a short life expectancy. She had one dream: To see her three sons graduate before she died. Her eldest is finishing college, her middle child is completing high school and her youngest is graduating from middle school.
She had learned that a drug in clinical trials might offer her that chance and she petitioned to receive it via compassionate use. While the company said they couldn’t offer it to her any earlier, she recently learned they will give it to patients like herself this summer, providing her and her family a sliver of optimism if she lives that long.
“Biogen said they are going to open tofersen for expanded use but not until mid-July. So that’s profoundly disappointing to us given the progression of Lisa’s disease,” Bob Mauriello, Stockman Mauriello’s husband, 51, of New Jersey, told TODAY. “But it’s gratifying to know that this campaign that Lisa has been at the center of, but certainly not at all alone in … really (will) positively impact more people.”
Unusual symptoms lead to devastating diagnosis
Last summer, Stockman Mauriello noticed that she struggled to breathe while walking her dogs. It surprised her and her husband because she was always so fit. For more than a decade she woke in the early morning hours to attend a boot camp. Then she noticed that she struggled to call her dogs inside. Her voice simply faltered. When she dried her hair, she had a hard time lifting her left arm. So she visited her doctor for some answers.
“Her primary doctor started to be concerned. First, it was diagnosed maybe that she had paralyzed vocal cords,” Mauriello said. “Paralyzed vocal cords would explain the losing her voice, kind of laryngitis type of thing. But it wouldn’t explain the other symptoms so he kept getting tests done.”
Tests revealed that a neurological condition was causing Stockman Mauriello’s symptoms and in January they learned it was ALS. She has a rare, aggressive form of ALS called bulbar-onset ALS, which starts with symptoms in the face or the neck. Most cases of ALS start in the limbs, according to the ALS Therapy Development Institute. Genetic tests revealed that a gene mutation led to her ALS.
“It’s more of a 12-month expected lifespan. So she started to have symptoms last August, so 12 months will obviously make it this August,” Mauriello explained. “She’s lost functionality increasingly. She has a hard time now walking more than 20 or 30 feet … She can no longer really talk at all.”
She needs more help breathing, relying on a machine to help her 16 to 18 hours a day. Last week, the couple was signing their taxes and Stockman Mauriello couldn’t.
“She was unfortunately not even able to sign her name, which was a really grim milestone. That was a bad day,” Mauriello said. “It’s a bad condition.”
Biogen’s drug tofersen is designed to treat ALS caused by the mutation Stockman Mauriello has. While the family had petitioned Biogen for compassionate use of tofersen earlier to make it easier for her to see her children graduate, the company said they couldn’t offer it. In a statement, the company said, in part:
We do not believe it is fair to ask participants in this study to continue to receive placebo while other SOD1-ALS patients are offered access to tofersen, but we do believe that access could be provided as soon as the placebo-controlled study has ended. However, until the safety and efficacy have been established, we will prioritize early access for a subset of the most rapidly progressing patients with this rare, severe disease.
While Mauriello feels devastated by this he also understands the difficulty facing drug manufacturers. The family was able to ask for access thanks to Right to Try, a bill passed in 2018 that allows patients to ask to receive experimental drugs if they cannot be involved in the clinical trial. But companies can still deny a request no matter how life-threatening the disease is.
Sadly, Stockman Mauriello learned of her diagnosis after the company stopped recruiting for its phase 3 trial so she couldn’t be included. The family is unsure if she will live until July. They still want the company to offer it earlier, but don't think it’s likely.
“There is hope,” Mauriello said. “It’s a low probability. But we’re never going to give up hope.”
The family and their friends have reached out their representative and senators for help and received overwhelming support. Mauriello hopes that maybe his wife’s case can help improve the legislation.
“What a great legacy that would be if we could make some tweaks to that law so it helps more people,” he said.
The Mauriellos have four binders of emails, notes and cards from people who knew Stockman Mauriello as a friend or through her career as a public relations professional in the pharmaceutical industry.
“People are just saying what a tremendous impact my wife has had on their professional or personal lives,” he said. “A lot of young women that my wife has worked with over the years find (career/parenting) overwhelming at times and they’ve looked up to someone who seems to be able to balance it all. It gives them hope.”
The family traveled widely — even their 14-year-old son has been to more than 20 countries — and the couple enjoyed a happy marriage for more than 25 years.
“We’ve been there with them to see the world, experiencing cultures,” Mauriello said. “She’s lived a full life in two-thirds of the time of most people.”
While this year has been difficult, the Mauriellos have seen so much good in people and appreciate the kindness they received.
“It’s an endless supply of goodwill that’s out there for the taking if people just avail themselves of it,” he said. “We’ve seen it day after day with all the outreach from people.”
This weekend, their eldest son is graduating from the University of North Carolina and they’re planning to attend. They also feel optimistic that she’ll be well enough for the other two graduations on June 16 and 17.
“We’re starting to get more hopeful,” he said.
Despite the challenges they faced, Mauriello hopes people see the positives of their story.
“Another thing we’d like people to take away from this is just be really appreciative of what they have,” he said. “We’re tremendously thankful not only for the blessed lives we lived but also for the outreach from various folks.”