For sufferers of rare diseases, options are rare too

Sabri Ben-Achour Jun 9, 2014

For sufferers of rare diseases, options are rare too

Sabri Ben-Achour Jun 9, 2014

Doctors have to swear a Hippocratic oath, as you probably know. It’s a promise to do everything required to help the sick. The economy doesn’t have to swear any such oath. So, what do you do when your disease or illness is so rare that few people have financial reason or resources to cure it?  

When Donna Appel’s daughter Ashley was just a year old and learning how to walk, Appel noticed she was bruising a lot. 

“So I brought her to the pediatrician and they said that because her skin is fair, you just see bruises more. I never really understood that,” she recalls.

Ashley kept getting bruises, but nobody thought there was anything majorly wrong. Appell says she felt like a crazy person. That is, until one night when Ashley was three. 

“Three oclock in the morning I heard her whimpering in her crib. I went in and her crib was full of blood.  She was in and out of consciousness, we rushed her to the hospital. She was there for three months,” Appell recounts.   

Ashley had bled so much she had suffered traumatic brain injury.

She had what’s called Hermansky Pudlak syndrome, a rare congenital syndrome caused by genetic mutations that interfere with the body’s ability to break down unwanted cells and material. Because it affects such basic cellular machinery, it has a lot of symptoms.

To be more specific: “Albinism of the eyes and of the skin, a platelet disorder that causes bleeding, a lung complication called pulmonary fibrosis, and that’s a fatal illness,” says Dr. Samuel Seward, Ashley’s primary physician and perhaps one of the only doctors in the country whose practice focuses on HPS patients.

These and other complications kept Ashley Appell in the hospital for much of her childhood.

“I grew up there,” she recounts in a husky, yet still delicate voice. “A lot of the doctors and nurses raised me there. And because of the traumatic brain injury, I had different specialists come to the hospital, and they would have to catch me up with school.”

The disease is incredibly rare — Just one to two people in a million get it. That’s why Ashley’s doctors had trouble identifying her illness, as people didn’t even know specifically what caused it yet. “There was no treatment out there, there was no gathered data. We felt terribly isolated,” Ashley’s mother remembers.  

The hard reality that the Appells were facing was that no pharmaceutical company thinks it’s going to make billions of dollars off of a disease that affects just a handful of people. In fact, not many researchers had ever heard of Ashley’s disease. 

There are government incentives for companies to devote resources to rare diseases, such as the FDA’s Rare Diseases Program. There are also niche companies that don’t need to make billions of dollars. But the quantity of research, attention, and resources is hardly comparable to those devoted to, say, cancer.    

“For those with rare diseases there are obviously additional difficulties,” says Terri Hinkley, Deputy Executive Director of the Association of Clinical Research Professionals.* “It’s normally a smaller patient population, there may not be the number of pharmaceutical or biotech companies interested in products for these diseases.”

And clinical trials – which are needed both for new drugs and new applications for old drugs – are expensive.  

“There are many different types and phases of clinical trials and research but individually each will cost potentially millions of dollars. The cost to bring one drug to market can be upward of $10 million.”

The Appells didn’t have that. But they did have something else. Numbers.

“Really who’s gonna care about one person,” she says. “I just had this feeling like we needed to create a mob.”  

And that is exactly what she did.  She formed what would eventually become the Hermansky-Pudlak Syndrome Network.  She enlisted her first member by getting in the audience for the Sallie Jesse Raphael show — Someone contacted her when she made an impassioned plea from the audience. At first it was just two families, then three, then dozens.

Eventually, they would hold conferences to discuss research, meetings where sufferers of HPS would trade makeup tips, and outreach events among New York’s Puerto Rican community, among whom HPS is significantly more prevalent.

While  drug companies may need dollars, researchers often need subjects.  Donna Appell started cold calling scientists. “I told them I had these families and we needed research.”

One of those researchers was Bill Gahl, clinical director of the National Human Genome Research Institute* at the National Institutes of Health. 

“I would not be studying HPS if it weren’t for Donna Appell,” he says.  The early individuals of her group “served as a substrate” for research into the causes of the disease.

“We actually collected 24 hour urine buckets from families with HPS,” recalls Appell. “ We had to do it in the winter cause they all had to be refrigerated so we put them all out on the snow on our deck. I gave awards for the heaviest urine bucket, and a funnel to the family that handed in the lightest urine bucket.”

What Appell didn’t have in money, she made up for with the old Razzle Dazzle.  The families sent cards, they put on performances for the researchers.  And they focused on marketing.

“How are we gonna get people to be interested in Hermansky Pudlak Syndrome – I mean even the name of it!” Appell recalls.

So they do what companies do and went out and trademarked a brand. “One of our members came up with a slogan ‘Dare to be Rare’.”

They’ve put it on mugs and other merchandise.  The idea is to get a brand that people like even if they have no idea what the disease is.    “Look at Boston Strong and Life is Good,” says Appell, referring to branded themes put to charitable or commercial use.

Between the urine buckets and the fundraising, researchers were eventually able to figure out the genetic mutations that caused HPS, and even run a few clinical trials through the NIH.

“I can’t highilght enough the significant power that these patient advocacy groups have,” says Hinkley with the Association of Clinical Research Professionals. “Their expertise in their disease and the resources and networks they have available to them have become invaluable to the clinical research industry.”

Researchers and drug companies are slowly realizing that studying rare diseases can improve understanding of less rare but more lucrative diseases. “If you study the rare it will lead to the common. There is so much we can learn and generalize,” says Hinkley. 

But Dr. Samuel Seward, Ashley’s primary care doctor, says not enough diseases are approached this way. “Nationally and internationally there does need to be a paradigm shift,” he says. By focusing research on cellular mechanisms or symptoms that rare and prevalent diseases hold in common, everybody wins. “In the sum total, rare diseases are much more common than people want to assume they are,” says Seward. “People like to think about the really common disease – Alzheimers, coronary artery disease, high blood pressure, diabetes. But when you think of the whole spectrum of human illness, rare diseases are important too and people are dying every day of rare diseases and every year of HPS, and we need to think more broadly about how we spend our research dollars.”

*CORRECTION: An earlier version of this story gave the incorrect title for Terri Hinkley.  She is the ACPR’s Deputy Executive Director.  The text has been corrected.

*CORRECTION: An earlier version of this story incorrectly identified the National Human Genome Research Institute. The text has been corrected.

There’s a lot happening in the world.  Through it all, Marketplace is here for you. 

You rely on Marketplace to break down the world’s events and tell you how it affects you in a fact-based, approachable way. We rely on your financial support to keep making that possible. 

Your donation today powers the independent journalism that you rely on. For just $5/month, you can help sustain Marketplace so we can keep reporting on the things that matter to you.