When Donna Appell’s daughter, Ashley, was six years old, she ran out to the store to buy her a purple dress with a matching barrette. It wasn’t for a friend’s birthday party or a class celebration. It was for their latest visit to the National Institutes of Health.
It was 1993, and they were traveling from their home on Long Island to Bethesda, Maryland, every other month over the course of two years as Ashley became the NIH’s “index case”—or the first case to be documented—for Hermansky-Pudlak Syndrome. HPS is a rare genetic disorder marked by albinism, visual impairment, prolonged bleeding, and sometimes pulmonary fibrosis—a fatal lung disease.
“This was like a two-year audition,” Donna recalls. There was no cure for HPS (there still isn’t) and the NIH hadn’t yet committed to doing any research.
That day, Ashley would see dozens of doctors on grand rounds. The purple dress may seem like a trivial detail, but Donna was trying to do everything in her power to convince these people to study the disease and help not only her daughter, but also several other families who’d already found them through the network she’d started—and hundreds of others who hadn’t yet.
“We were in a two-year period of making a difference for this whole population,” she says. If their efforts didn’t pan out, a cure would feel even more elusive. And so it felt like every visit, every interaction, and every gracious “thank you” counted. Ashley was becoming the index case for the disease, and her mother became its first activist as founder of the HPS Network, the first nonprofit dedicated to supporting people with HPS and advocating for a cure. More than two decades later, it’s still the only one.
And that vacuum is exactly what pushed Donna to make an unexpected career change after upwards of 20 years working as a Registered Nurse. When Ashley was diagnosed at 18 months, even doctors knew almost nothing about HPS. It was a few months after that, when Donna found a crib full of blood coming from her toddler’s diaper, that she and her husband started to feel like founding the organization was a life-or-death decision.
“I didn’t want to sit still and let this happen to us,” Donna says. “It’s my coping mechanism that I have to try to fix it. And I didn’t want it to just come and get my daughter.” But it wasn’t just about her daughter. “We were so scared to death with Ashley’s experience when she was two—and we were so isolated.” She and her husband “couldn’t imagine any other family doing this by themselves,” she adds. “We wanted to make sure that nobody was that alone.”
It started with an appearance on the talk show Sally Jessy Raphael and listings in magazine directories. Today the network has a registry containing more than 1,200 people with HPS and has supported many of them and their families through the diagnosis and its aftermath. Members come together for annual conferences, the first of which were held in the Appells’ home before the events became too big and had to be moved to a hotel. There’s a Christmas benefit concert and a fundraiser at the Oyster Festival on Long Island every year and more recently, annual visits to Puerto Rico (where the disease is far more common). And the network’s efforts have led to research at the NIH and elsewhere.
“I understand that I am not a researcher, I am not a scientist, I am not a drug developer at a pharmaceutical company. I am a convener,” Donna says. “So my job then is to make sure that the ground is fertile. Like what happens if we had a cure tomorrow. Are my people ready to get into a drug trial?”
Donna now has a staff of four. But being the first activist and the founder of the sole organization comes with a lot of pressure. In the roughly three years since I last interviewed her, the network has seen 11 deaths. It feels like losing the first generation, she says, as those in their 40s succumb to the lung disease.
“It’s not only difficult because you’re watching your friends die, but it’s difficult because you’re the founder of the organization that’s trying to find the cure,” says Donna, who’s been the network’s indefatigable leader for two and a half decades. “So you feel like you’re letting them down, I feel like I let their mothers down,” she says. “I know intellectually I’m not the researcher or the person that’s going to figure out the answer but I’m the person that they got hope from and I couldn’t deliver,” she adds. “We should’ve cured it. We should’ve been out of business.”
This is the update Donna starts with because, as she says, she always likes to end on a positive note. And there’s plenty of good news, too. Half a dozen research centers—in New York City, Nashville, Boston, Chicago, Jacksonville, and Cincinnati—are seeing HPS patients as part of a study looking to identify early markers and causes of the fatal lung disease, though participant recruitment has been slower than they hoped. The network is working to create individual research plans for its members, so it knows who wants to be involved and how. And at the 25th annual conference in March, it facilitated the collection of samples for researchers from five different academic institutions.
“Science isn’t ready until science is ready,” Donna says. “It has to percolate. It has to have its season. And you just have to do everything you can to make fertile ground.”
Donna would probably never tell you this herself, but others would happily: It’s thanks in large part to her efforts—and those of the network she created, the other activists she inspired, and the researchers she informed and persuaded—that science has made enormous strides toward ready. And when it is, it’s because of her that the ground will be fertile.
What Motivated Her to Become the First
It was life or death. I had to do something. I always made a joke that I was either going to need Prozac or I was going to pro-act. It’s how I cope. I thought about the fact that it’s exploitative perhaps to use [Ashley’s] story to gain some traction and I was really worried about that. And I had a doctor tell me that no one was going to cure this disease for us if we stayed in our living room. And that encouraged me. And then I also realized that nobody’s going to cure just one person, that in order to engage scientists I had to make sure that I wasn’t just focused on my family. I needed to gather the people.
The Biggest Challenge She Faced
Raising money for research. It takes so much money to affect science. My biggest personal issue is watching everybody be sick and having to internalize that. Seeing it over and over again.
Advice She’d Give Another First
It’s overwhelming if you look at the big picture. Because it’s like “cure the disease!” And that’s paralyzing. So you’ve got to break it into small, tolerable pieces, and just do one thing at a time. Check that off your to-do list and grow from there. People don’t feel that one person can make a difference and that’s so not true. Because you could be the person that starts the group and the group could start the country and the country could start the world.