SAUGUS — Jenn McNary just had her second son when she started to notice that her oldest, who was three at that time, was not developing normally.
She brought him to a neurologist only to find out that there was nothing she could do ― and that her second son was about to develop the same terminal condition. But instead of going to counseling, she ended up counseling other parents whose children had Duchenne disorder.
Duchenne muscular dystrophy (DMD) is a progressive muscular degeneration disease. Children diagnosed with it usually lose the ability to walk in their teens and, as the disease progresses, other muscles become affected. Finally, the kids stop being able to breathe, and die before reaching adulthood.
“You struggle to figure out how to raise children that are not going to live,” said McNary, a Saugus resident who serves as the executive director and head of patient advocacy and engagement at Fulcrum Therapeutics.
The first neurologist McNary brought her kids to advised her to take them home and enjoy the time that they still had together.
But McNary decided not to accept that her sons would never become adults. Instead, she became a member of Parent Project Muscular Dystrophy and the Muscular Dystrophy Association ― a long journey that saw her become a speaker at the same association conference 20 years later.
Her oldest son, Austin, is now a student of biomedical engineering.
“Very quickly, we learned that the doctor who diagnosed the boys wasn’t on the cutting edge of research,” said McNary. “We didn’t realize that physical therapy was important, and we didn’t realize that we could start a steroid to help slow the progression.”
It was at that time that McNary realized the importance of being connected to a broader community. It was there she learned about experimental drug trials. At that time, Austin had already stopped walking, and because of that he wasn’t admitted to the trial. His younger brother Max, however, was admitted.
For the trial Max, McNary, and her newborn daughter, Norah, had to travel weekly to Ohio from Vermont, where they lived at that time, in order for Max to receive doses. The drugs helped his body to develop a protein called dystrophin, which the patients with DMD are missing.
Some of the doctors were against the clinical trial treatment, but McNary said that she lost her fear because she was aware of what would happen if she didn’t do anything.
Max’s condition improved as a result of the trial and five years later Austin, a high-school student at that time, started to receive the experimental treatment, too. The pharmaceutical company developing the drug bore all the medical and collateral expenses.
Seeing her kids, whom doctors initially predicted shouldn’t have become adults, getting their future, McNary became an advocate of science and of medical research. She helped to improve the data collection techniques so that they better reflected the real improvements in the condition of patients.
McNary said that she saw that her son’s condition improved after the clinical trial, but not all the improvements got documented.
“It’s hard to measure the fatigue, for instance,” she said.
Using better data collection, the treatment passed the Food and Drug Administration (FDA) inspection in 2016. McNary also helped to build an outreach initiative to make officials aware of the effects of the trial.
“We worked closely with our local legislators, and (U.S.) Sen. (Elizabeth) Warren was incredibly helpful in getting us a seat at the table,” said McNary. “(She) helped us to have access to the FDA and share our experiences with them.”
When McNary’s third son, James, developed another rare genetic disorder — primary immune deficiency — the family joked that he thought his older brothers were receiving too much attention, and he finally developed his own rare disease.
McNary’s optimism and her refusal to give up on her children made her a spokesperson for the community of families affected by genetic diseases. It was there where she found her first clients for her company, J. McNary Consulting, and that eventually brought McNary to her current job as executive director at a biotechnological company, Fulcrum Therapeutics.
And she continues to refer to herself as being lucky.
“My fourth child, Norah, is healthy,” said McNary. “I actually had her tested to find out if she was a carrier, and she was not a carrier, so we got lucky.”
McNary also founded One Rare Experience, a free program for young adults living with rare diseases.
A year ago, McNary adopted two children in addition to her four biological children.
“I like to help people,” McNary said. “I am an action-oriented person, and I want to be making a difference.”