‘Frustrated and panicking’: For some rare disease patients, shortages of protective gear pose a continued threat

When the coronavirus sent cities across the United States into shutdown in March, Laura Bonnell realized that her family’s supply of masks and disinfectant wipes was quickly running out.

“We didn’t have any N95 masks and we only had about 20 disposable masks,” said Bonnell, whose two daughters have cystic fibrosis, a rare genetic condition that makes infections easier to catch and harder to get rid of by producing a thick, sticky mucus that traps germs in the lungs.

Social distancing and mask-wearing are nothing new for people with rare diseases that raise their risk of deadly infections. “For my daughters, it has always been life and death,” said Bonnell.

But they’ve never faced such hurdles in getting the protective gear needed to stay safe. Prior to the pandemic, nearly half of rare disease patients and caregivers depended on personal protective equipment (PPE) like masks and gloves to manage infection risk related to their condition; 1 in 5 required PPE constantly, according to a survey of 833 patients by the National Organization for Rare Disorders. Of those who reported trouble accessing medical supplies or devices like feeding tubes, PPE was the biggest challenge.

Despite months of outcry and effort to ramp up supply, the U.S. continues to grapple with PPE shortages. Bonnell’s online searches for masks and disinfectant wipes have often come up empty. Early in the crisis, when she reached out to other members of the cystic fibrosis community in Michigan, she found that no one could give her answers. “I thought, there are 1,100 of us in Michigan. Why can’t we get our hands on anything?” she said, adding, “I was frustrated and panicking. I felt like a terrible mother.”

Working with the Oakland County Commissioner, who oversaw a warehouse stocked with masks, gloves, and other equipment, Bonnell acquired a truckload of PPE in June that she distributed to over 50 cystic fibrosis families across Michigan.

“I had people calling me from Kentucky asking if I could mail them PPE,” said Bonnell. “It was all gone in a week.” Even now, she is unable to get her hands on N95 masks and worries that the shortage will worsen as the pandemic surges nationwide.

Aimee Guarnieri has also struggled to find N95 masks, gloves, and face shields. Wearing PPE in public was customary for her even before the pandemic because of her primary immune deficiency disease, which weakens her immune system. Now, without access to the PPE she relied on, she has had to change her routines.

“I ended up just not going out,” said Guarnieri. Because online delivery isn’t available in her area, her only trips have been to the grocery store, which she said has made no accommodations for immunocompromised people.

Even for those who are able to stay home, the lack of PPE complicates day-to-day life for people with rare diseases. They don’t just need adequate PPE for themselves — anyone they live with or visit who goes out and potentially exposes themselves to the coronavirus needs to be wearing it to decrease the risk of transmitting an infection.

“It’s not one individual that’s wearing the PPE — it’s also the 10 or 15 people who interact with them. The idea is to form a cocoon to protect them,” said Rishi Desai, a pediatric infectious disease specialist.

That has posed an additional challenge for families like Mary Wootten’s. Her two children have rare diseases that put them at high risk of severe Covid-19.

“I was told that if my son caught the worst strain of Covid, he probably would not survive,” Wootten said. Wootten has had to rely on community donations to stockpile PPE to keep her family safe — and to make it possible for her kids to see loved ones at a time when their “mental health [has taken] a really big hit.”

Not all of the 30 million rare disease patients in the U.S. are immunocompromised. And some people may have a weakened immune system for other reasons, such as cancer treatment, that make them more likely to contract severe infections. However, for people with rare diseases, trouble finding PPE is yet another problem among a long list of challenges: lack of treatments, inconsistent definitions of rare diseases which affect diagnosis and treatment, and an often yearslong search for an for accurate diagnosis. Some feel that the moniker “rare” has kept the needs of their community low on the list of policymaking priorities — and now, sidelined in the conversation on PPE shortages.

“We are constantly left out,” said Lauren Ruotolo, the president of the FD/MAS Alliance, which advocates for people living with McCune-Albright syndrome. Ruotolo herself has the rare disorder, which typically affects the bones, skin, and hormones. As a person who uses crutches due to her condition, she is frustrated with the lack of public health guidance or tools to keep them sanitary. “Where’s the PPE for crutches?” she asked.

With no systemic solutions currently available, the most effective option is to conserve and recycle PPE, according to Desai. But for the patients and caregivers struggling to find PPE in the first place, like Bonnell’s family, they are left to their own devices to figure out how to protect themselves as the pandemic again surges. They can’t afford not to.

“The world just wants it to be over. People are getting pandemic fatigue,” said Ruotolo. “I’ve lived with this for 44 years. I don’t get to be tired.”