Crowdsourcing to Fund Rare Disease Research

Medically Reviewed by Brunilda Nazario, MD on March 26, 2019
From the WebMD Archives

medical researcher

When her son was born in 2011, Nicole Henwood, MD, noticed a small white patch of skin on his thigh. A few years later, she noticed two new darker-colored spots. She didn't think much about them after doctors told her there was nothing to worry about. At 6, A.J. was a smiling, energetic boy who loved to adopt animals and entertain his family with his plans to become a baseball player, wondering if he should be a pitcher or play first base.

When A.J. started school, his pediatrician noticed that his vision wasn't quite as sharp as expected. Henwood, who lives in suburban Philadelphia, brought him to a pediatric eye doctor for what she thought was a routine evaluation for glasses. This led to an appointment with an eye cancer specialist for a concerning "freckle" on his retina. She spent the next few hours sobbing in the office after the doctor told her that the spots in his retina combined with the patches on his skin made neurofibromatosis 2 (NF2) the most likely diagnosis. Suddenly, A.J. had a crippling rare genetic disease with no cure that would cause tumors to grow in his brain and along his nerves. The disease affects one in 30,000 people worldwide.

"For the first month after A.J.'s diagnosis, I cried every day and could barely get myself out of bed," says Henwood, an anesthesiologist. She and her husband, Andy, a naval officer, said they felt lost, alone, and devastated at the thought of watching their son deteriorate.

Further tests to confirm A.J.'s NF2 diagnosis showed tumors on both of his hearing nerves. He also had a benign brain tumor called a meningioma dangerously close to several blood vessels and nerves, several small tumors in his lower spine, and small tumors, called hamartomas, in both of his eyes. Though he doesn't have symptoms from these tumors yet, it is only a matter of time before they start to cause problems. A.J.'s neurologist told Henwood and her family that the best course of action was to teach her son sign language so that he can communicate when he loses his hearing.

Beyond that, they would monitor each tumor to check for growth and watch for new tumors, deciding if they needed to intervene. Currently, surgery and, in some cases, radiation are the only ways to remove tumors when they cause severe symptoms. Both can cause more damage to nerve and brain tissue.

With no hope for effective treatments on the horizon, Henwood and her family decided to fight for a cure on their own. "I just woke up one day with a fire in my belly and decided that I wasn't going to let this happen to my son," she says.

Rare Diseases and Orphan Drugs

According to the National Institutes of Health (NIH), there are 7,000 known rare diseases, but only 5% have approved treatments. Because of the small number of people diagnosed with each of these conditions, drug companies have usually have little incentive to do research or come up with treatments for these "orphaned" diseases.

In 1983, Congress approved the Orphan Drug Act (ODA) to spur development of treatments for rare diseases. It provides tax credits and 7 years of exclusive rights to market for any drug the FDA approves with an "orphan" designation. But progress toward finding cures for the 7,000 rare diseases remains slow.

In the meantime, families are in a race against time. Some have found that the most dependable way to find a treatment that may achieve orphan drug status is to fund the research and development themselves. The National Organization for Rare Disorders (NORD) reports close to 200 patient-led member organizations are funding research.

Chris Coburn, chief innovation officer of Partners HealthCare System of Harvard University's affiliate hospitals, says his office has seen a steady growth in rare disease family foundations working with Harvard researchers over the past 15 to 20 years. These foundations often fill in the gaps for researchers in terms of funding and expertise, accelerating the research and changing research priorities. He's also seen these groups support early career investigators with grant funding and support.

In most cases, family foundations, eventually, have to rely on larger pharmaceutical companies to carry out the later clinical trials because of their high cost. They also need the pharmaceutical industry to make the therapies. When drug prices are then set at astronomical amounts, it can be a shock for the foundations that helped fund the early work. Many of these foundations get no share of the profits, and parents struggle to pay for lifesaving medications for their children.

For now, Henwood says she can't wait for the day when she has to face that hurdle. "It is definitely a huge problem, but it will be a blessing to worry about pricing the drug. It would mean that we will have raised enough money, moved the process along to clinical trials, and found a company that will be able to manufacture the therapy."

Social Networking

In her quest for answers, Henwood searched through Facebook groups devoted to supporting families with NF2. She eventually joined a group called The Science of NF2, whose members shared papers detailing the latest research and cutting-edge therapies for the disease.

She learned about trials involving targeted cancer drugs, but she was drawn to research on gene therapy. The goal of most gene therapies is to put a gene into a person's cells that can either replace a damaged gene with a healthy one or turn off a broken gene. Because NF2 is caused by damage to a single gene, Henwood hoped this disease would be a good fit for gene therapy.

She learned about another doctor-mom who had raised over $1 million to fund gene therapy research for Sanfilippo syndrome, a genetic condition affecting her daughter that causes severe brain damage in childhood. Through a Facebook group for doctor-moms, Henwood contacted her. She and her husband helped Henwood set up her nonprofit, NF2 BioSolutions. Henwood and several other NF2 families have grown the nonprofit with an all-volunteer army and ambassadors worldwide to raise the funds needed to support research and educate other NF2 families about the best options for care. They have raised more than $175,000 since 2018 with a goal of $1 million needed for studies.

Science With Heart

For more than 10 years, Gary Brenner, MD, PhD, has been working to unlock the mysteries behind Schwann cell tumors, also known as schwannomas. Schwann cells produce the myelin that insulates parts of nerve cells, but when the signal to stop replicating is lost due to genetic damage, these mutated cells can form bulky tumors around nerves. Schwannomas are responsible for the hearing loss seen in NF2. Several genetic diseases increase the chance of having schwannomas.

Brenner sees patients at Massachusetts General Hospital's Pain Management Center. His research centers on a gene therapy that targets mutated Schwann cells and reprograms them to self-destruct, leaving the underlying nerve intact and functional. So far, his research shows encouraging results against human schwannoma cells injected into mice. The therapy has cut the size of the tumors and eased pain without causing nerve damage. The next steps include studies to ensure safety before clinical trials to learn if the therapy can help human patients. These trials are costly, time-intensive, and require a thorough understanding of the regulations around the FDA process. By some estimates, it can take 10-15 years and $1 billion to develop one new medicine for human use.

When Henwood connected with Brenner, they immediately worked to move the gene therapy to human trials faster. "It's motivating to know about Henwood's child, who's almost the same age as my own," Brenner says. "I can't imagine and can't help but feel empathy. ... There is an inequity, a lack of justice in rare diseases that don't receive attention due to financial reasons."

Henwood jokes that she sometimes sees herself as Brenner's executive assistant, sending alerts when paperwork is due or telling him about documents that need to be signed to move the work along. "What NF2 BioSolutions lacks right now in monetary support, we make up for in terms of expertise provided by volunteers who come from pharmaceutical industry and FDA backgrounds. They know the FDA regulatory process inside and out. Without these volunteers, I don't know what we would do. I've seen some FDA consultants charge over $100,000 for advice," Henwood says.

Not Just NF2

Though Henwood's experience has shown her how fragmented the drug development process still is, she does say that the pieces of the puzzle have been much easier to find because so many people have stepped in to help. "Every time I have needed someone to guide me, or when I reached a potential hurdle, the people I needed with the skills to help have come out of the woodwork. And no one has asked me for a penny," says Henwood. "They have all donated their talents to help these children. It has been humbling to see."

Her next major goal is to raise enough money to fund a toxicology study as required by the FDA before clinical trials can begin. With enough funding, the gene therapy could be in human trials in as early as 14 months. She has created an campaign to help raise funds and is working with other NF2 organizations to advocate for more federal funding for research.

Henwood's determination to fight for a treatment for her son will not only benefit those with NF2. Strategies that work for one rare disease can also enhance treatments for other diseases.

In the whirlwind of a full-time job, a nonprofit to run, and a mix of fundraisers, advocacy trips, and research conferences, Henwood has much less time to spend with her daughter and son. "I wish I could spend more time with A.J. now, but I have to choose: Spend time with him now and watch him suffer in a few years, or hope that I can make up the time in the future after we find a treatment," she says. "Right now, all he knows is that he has some spots that need to be watched and that Mommy is out there fighting for him."

By the Numbers

Fewer than 10: Number of FDA-approved treatments for rare diseases between 1973 and 1983

25 million to 30 million: Number of Americans living with a rare disease

10 to 15: Number of years it can take to complete clinical trials for one new medicine before human use

350 million: Number of people living with a rare disease worldwide

7,000: Estimated number of rare diseases currently identified

200,000: Maximum number of people affected by a disease for it to be defined as rare in the U.S.

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Show Sources


Nicole Henwood, MD, president and CEO, NF2 BioSolutions, West Chester, PA.

UpToDate: "Neurofibromatosis type 2."

National Institutes of Health: "Rare Disease Clinical Research Network."

Lancet: "Spotlight on Rare Diseases."

National Institutes of Health: "FAQs About Rare Diseases."

University of California, Davis: "What is Translational Research?"

National Organization for Rare Disorders: "Member Snapshot."

National Institutes of Health: "What is Gene Therapy?"

NF2 BioSolutions: "FAQs."

Amber Salzman PhD, president and CEO, Ohana Biosciences, Merion Station, PA.

Gary Brenner, MD, PhD, director, Pain Medicine Fellowship, Massachusetts General Hospital; associate professor, Harvard Medical School.

Cancer Gene Therapy: "Schwannoma gene therapy by adeno-associated virus delivery of the pore-forming protein Gasdermin-D."

University of California, Davis: "What is Translational Research?"

Chris Coburn, chief innovation officer, Partners HealthCare, Cambridge, MA.

Peg Brivanlou, PhD, partner, King & Spalding, New York.

Kaiser Health News: "The High Cost of Hope: When The Parallel Interests of Pharma and Families Collide."

The Scientist: "The Challenges of Rare-Disease Research."

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