Their children are dying. So these families are racing to raise money for research no one else will fund

Taylor Sabky spent this past Mother’s Day in shock, absorbing the news that her toddler, Purnell, was dying. He’d been diagnosed days before with Niemann-Pick type A — an ultra-rare genetic disease that typically kills children by age 3. It was inconceivable.

“When we’d look at him, he was smiling. He has such a sweet personality,” she said. “It’s been really tough to imagine he’s dying.”

So she and her husband, Sam, made a vow: save Purnell.

That’s the tagline of the couple’s wildly successful crowdfunding campaign, which has raised more than $600,000 in just over a month. The aim? To speed development of a one-shot experimental gene therapy that might, perhaps, treat their son’s deadly neurodegenerative disease.

Rare diseases are increasingly attractive to biopharma companies, which can charge premium prices if they come up with a therapy. (One drug that just hit the market is priced at $750,000 for the first year of treatment.) But before they’ll invest heavily in a field, companies want to see compelling early-stage science.

So families like the Sabkys are turning to the internet to raise money from friends — and from total strangers — to fund basic research at universities and hospitals.

“It seems the rare disease space is a lucrative, pretty sexy space for companies. But there’s still too much risk, in our opinion, for a company to just jump in,” said Steven Laffoon, who runs the Wylder Nation Foundation, a nonprofit that focuses on spurring research into Niemann-Pick.

The foundation is helping families like the Sabkys fundraise and funnel money to researchers, in hopes that they’ll be able to push the science “to a point where we can maybe spark some industry interest to take that path to the finish line,” Laffoon said.

It doesn’t take huge sums to make a dent: Just $100,000, given to the right lab, can go a long way toward developing a novel compound or screening the existing library of drugs for one that might be useful against a particular rare disease, said Arvin Gouw, vice president of research at the nonprofit Rare Genomics Institute.

“The key thing about the families is, they can give you funds early, before [the National Institutes of Health] would be ready to give you that additional funding,” said Dr. Elliott Sherr, a pediatric neurologist at the University of California, San Francisco. Some of his research into a rare genetic disorder was subsidized by patients’ crowdfunding campaigns.

Even better than the funds, he said, is the awareness that comes when a patient’s family goes public with pleas for research. In just two years, family activism helped bring forward more than 60 patients with the rare genetic mutation he studies, known as DDX3X.  Having such a large pool of patients available to participate in trials “accelerates the research process,” he said — and that’s a big deal for a disorder that was “essentially undiscovered” just two years ago.

No matter how much they raise, however, the families know they must always temper their expectations.

It’s a long and often heartbreaking path from early glimmers of hope in a lab to actual therapies that help patients in the clinic. Many drugs that show promise in rodents fizzle when tested in humans. And though rare disease treatments typically get speedier review at the Food and Drug Administration, it can still take years to get a product from lab to market.

So for all these families, it’s a long shot that they’ll be able to  save their own children.

The hope, of course, is that some other child might benefit where theirs did not.

‘Go home and love your kid’

As an infant, Purnell Sabky was slow to hit developmental milestones. His parents didn’t think much of it. But at Purnell’s 6-month checkup, his pediatrician noticed that his liver was enlarged — leading them to the doorstep of the Boston Children’s Hospital genetics department.

After a battery of tests, they got a diagnosis: Niemann-Pick type A, a disease with zero options for treatment.

“We left with a death sentence, basically: ‘Go home and love your kid,’” said Taylor Sabky, who is 29 and teaches math to immigrant students in the Boston area. Sam Sabky, also 29, runs a gourmet coffee startup called King’s Row Coffee. The two met as undergrads at Princeton University; Purnell is their first child.

Niemann-Pick belongs to a family of rare diseases called lysosomal storage disorders. A mutation in the SMPD1 gene leads to a dearth of an enzyme, sphingomyelinase, which in turn leads to a buildup of a type of fat called sphingomyelin. This overload of bad fats winds up killing cells, particularly in the brain, lungs, spleen, and liver.

There are four types of the disease: type A, B, C1, and C2. Purnell’s variety, type A, is “as rare as it gets,” Sam Sabky explained — and by far the worst.

As the family processed that horrifying news, they also started to dig deeper into the science behind the disease.

“We found out that there was research for this gene therapy treatment, and it was closer than we thought. The barrier was just funding,” Taylor said. “That turned a hopeless situation into a hopeful one.”

With the help of the Wylder Nation Foundation, the Sabkys quickly learned that researchers at the University of California, San Francisco, had developed a virus containing a gene that could correct the enzyme deficiency in patients with Niemann-Pick type A.

But it’s costly and time-consuming to multiply that virus enough times to make an impact when it’s injected into a patient.

The research team needed about half a million dollars to take that next step. So the Sabkys made a moving video showing Purnell, who’s now 14 months old, laughing in his high chair and cuddling with his mom and dad. They posted it on the crowdfunding site GoFundMe, set a goal of raising $750,000 by the end of June, and worked with a public relations firm to pitch their story to local and national media.

It worked: In the past month, news outlets ranging from Boston television news stations to People magazine have covered Purnell’s story.

“We’ve definitely taken a business approach here. Sam and Taylor have been very strategic, for instance, in how and when they put out social media posts about Purnell,” said Laffoon, Wylder Nation’s founder. “And all kinds of wonderful people have come out of the woodwork to help.”

The first donations came in within hours. So far, the Sabkys have collected more than 8,000 pledges, many of them anonymous, in amounts ranging from $10 to $10,000.

Among the most touching contributions have been small donations from the children Taylor Sabky teaches. One student, who lives in a homeless shelter, gave $10 to the cause — and said she was sorry she couldn’t give more. Taylor Sabky’s desk is filled with posters and inspirational letters from people who want to help save her son.

About $500,000 of the money raised by the Sabkys will fund research at Children’s Hospital of Philadelphia to create the viral vector that could deliver the gene therapy to patients.

That’s projected to take about six months — an eternity when dealing with a fast-moving neurodegenerative disease like Purnell’s. But the vector isn’t meant exclusively for Purnell: They’re looking to manufacture enough for a full Phase 1/2 trial that could enroll six to eight patients.

In the meantime, there’s a ton of red tape to sift through: The Sabky family needs to get permission from the FDA to allow Purnell to take part in this experimental gene therapy. The researchers, too, need regulatory approval to run the clinical trial. Some of the crowdfunded money will be used to prepare those applications.

The family will also likely appeal to the FDA to allow Purnell to take a drug from Genzyme that was developed for a different form of the disease, Niemann-Pick type B. The Sabkys hope to slow the course of Purnell’s disease with what’s essentially an off-label therapy.

“It’s nice to know that there are steps we can take: We’re not just winging it,” Sam Sabky said. “Right now, there’s a chance everything will line up. It’s not a great chance, but a chance — so we have to take it.”

Helping to steer research

One of the most successful crowdfunding campaigns for rare disease was led in recent years by the parents of Eliza O’Neill.

They raised more than $4 million to speed up research for Sanfilippo syndrome, another lysosomal storage disorder, with about $2 million coming directly from a crowdfunding campaign. This helped Eliza, who has the disease, get access last May to an experimental gene therapy from Cleveland biotech Abeona Therapeutics. The trial is very small, and results are preliminary, but patients so far seem to be responding.

Then there are Leena and Anil Panwala, who have raised more than $150,000 to support research for their daughter, Ariya, who was diagnosed last year with a genetic disease called infantile neuroaxonal dystrophy, or INAD. They don’t want to leave it up to the whims of pharmaceutical companies or federal grant reviewers to determine which research gets funded.

“That’s our biggest motivation for starting our foundation and raising the money: We’re making sure the control comes from families affected by INAD,” Leena said. “It allows us to get more and more scientists researching this particular mutation — and get more accountability from the researchers.”

Unlike the Sabkys, the Panwalas aren’t focusing on pushing forward a single avenue of research. A gene therapy has potential, but Leena Panwala has seen this treatment method fail in patients. “That opened our eyes to not put our eggs in one basket,” she said.

So one of the Panwalas’ initial aims is to create a postdoctoral position focused exclusively on the disease at a university where research for an INAD gene therapy is already underway. Next year, they’ll also sponsor a $100,000 research grant through the Rare Genome Institute.

The family plans to continue to raise money in their daughter’s name. They’ll fund enzyme replacement therapy, research into supplements, further study of existing drugs — anything that might give Ariya a chance.

A race against time

The Sabkys know that gene therapies for lysosmal storage disease will be far more effective the earlier they’re administered — before the lipids have had too much time to accumulate in the body.

By the time the treatment is ready to test, Purnell’s disease may have already progressed too far for him to benefit. The Sabkys know that. But they keep pushing.

“We know there will be a point where he’s too far gone neurologically for the treatment to work,” Sam Sabky said. “Gradually he’ll become distant, and lose his smile and laugh. That’s really the saddest part we’re racing against.”