Leeann Fortenberry was driving when she got the call one day in 2013.
A doctor from Fort Worth was on the other end of the line and asked what she was doing. She needed to pull over to the side of the road, he told her. Fortenberry’s infant daughter, Faith, had been diagnosed with a form of spinal muscular atrophy (SMA), a rare genetic neuromuscular disease that wastes away its victims’ muscles.
This was her biggest fear. At 18 months old, Faith had shown signs that something was wrong. She was beginning to learn how to speak and yet had still not been able to stand. That led to a doctor’s consultation where professionals told her they just hoped it wasn’t SMA. A blood test had now dashed those hopes.
Fortenberry immediately began asking the questions any parent would with such distressing news: Would Faith ever walk? Would she even live?
The doctor said he didn’t know.
“I just sat and cried on the side of the road for an hour,” she says.
Faith is now 8 years old. While her mobility is limited, Biogen’s SMA treatment Spinraza, which became the first approved SMA drug in the U.S. in 2016, has helped. But the pandemic has added new challenges to her and her mother’s lives—as well as the lives of thousands of American families grappling with similar diseases.
SMA is one of a group of neuromuscular diseases that includes Duchenne muscular dystrophy and amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s disease, among others.
The COVID-19 crisis presents potent challenges for patients with such conditions: posing an even greater danger to their health, disrupting the development of new drugs, and putting an added burden on caregivers.
“This population is among the highest risk for COVID,” says Lynn Vos, president and CEO of the Muscular Dystrophy Association (MDA). Such diseases can affect all muscles, including the diaphragm, which supports the lungs, making it difficult to breathe. A deadly respiratory illness on top of that is an existential threat.
“COVID would kill them,” she says.
Should a patient need emergency ventilation for their own underlying condition, the emergency room is about the last place they can turn to right now, owing to the risk of contracting the coronavirus, Vos adds.
SMA, ALS, and various types of muscular dystrophies collectively afflict about 275,000 people in the U.S. Depending on which condition—and which form of the disease—a patient has, they can die anywhere from early childhood to young adulthood.
The MDA, a nonprofit, is the largest funder of research into drug development and care for neuromuscular disease patients outside of the federal government, committing more than $1 billion to the discovery of new treatments over the course of more than 70 years, according to the organization.
That research has been a major challenge amid the pandemic.
“We’re having a lot of consternation on the research side,” says Sharon Hesterlee, a 20-year veteran of the biopharmaceutical industry who now serves as the MDA’s chief research officer. “Many [clinical trials] are on hold. Having these people come into a hospital for a clinical trial, unless it’s an emergency or intervention, you really can’t justify it right now.”
That’s a tough lift for organizations in the midst of conducting neuromuscular disease trials. Some may now have incomplete data when submitting an experimental therapy to the Food and Drug Administration for approval. Regulatory submissions could very well be delayed.
This isn’t an issue limited to rare disorders. The FDA has already been pushing for virtual clinical trials for a number of conditions in the face of the coronavirus crisis. It does, however, hit the neuromuscular disease community particularly hard given how difficult it can be to care for such patients—which makes the quest for new treatments so important.
But Hesterlee says that in the face of adversity, the MDA’s grantees are getting creative.
One key metric used to see whether or not a treatment for neuromuscular diseases is working is a six-minute walk test. A patient is asked to walk as far as possible in six minutes. Since these kinds of tests can’t be conducted in the clinic right now, some groups have begun sending two-way cameras to the homes of study participants and their caregivers. They then observe and record the test, which a patient can do from the safety of their own homes.
“You’d never do this in normal circumstances, but these clearly are not normal circumstances,” says Hesterlee, who’s heard from at least two unrelated patient groups that have switched to this method.
Earlier this month, the MDA formed a new medical advisory team to issue guidance on various topics that impact research and care for neuromuscular disease patients. Dr. Barry Byrne, now the MDA’s chief medical adviser, co-held a Facebook Live event with MDA chief advocacy officer Kristin Stephenson on April 2 regarding best practices during the coronavirus crisis. The turnout was stunning.
“All 150 of the care center directors in our MDA network came to the meeting virtually for several hours,” Byrne says.
The innovation driving this tight-knit community in a difficult time is striking. But coming up with new trial techniques and holding virtual town halls can only do so much—especially when it comes to the mental health of patients and their caregivers.
Even in normal circumstances, a child with Duchenne, for instance, may have to be physically turned over by their caregivers in their beds to prevent further muscle damage or bedsores since they likely can’t do so by themselves.
For Fortenberry, a schoolteacher who now has to teach her own classes as well as Faith, the pandemic has been a thief in the night, robbing mother and daughter of the chance to go outside and interact with others. That hits hard for patients and caregivers who typically are more isolated and less mobile to begin with.
“Most of our SMA friends tend to shut down and not leave their homes during flu season. We’ve never been like that. Faith and I are very social,” Fortenberry says.
She recalls a recent day when she and Faith did the closest thing they could to going outside: “We just sat in the garage and waved at every human that passed. We just want to be around folks again.”
One big regret is that Faith won’t be able to attend the summer camp set up by the MDA this year—one of her favorite activities. But, ever the happy warrior, Fortenberry says she’s still grateful for the virtual camp MDA is setting up instead.
“I’m just glad that she’ll get to see her friends again,” says Fortenberry.
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