Rare Disease Patients and Families Find Hope in Research

After a long day of school and homework, many kids look forward to relaxed playtime. This is far from reality for Ella Murray, whose after-school activities often include a three-hour routine to take care of the wounds covering her body. In the evening, Ella’s parents must carefully remove her bandages, bathe her and break any blisters before re-bandaging her for bed.

Ella was born with dystrophic epidermolysis bullosa (EB), a rare genetic condition that prevents her body from making a protein that helps hold skin together. Children with EB are sometimes called “butterfly children” because their skin is as fragile as a butterfly’s wings. Even the slightest friction can cause their skin to blister or tear. EB affects almost every organ in the body, as well as scarring in the throat and digestive tract, and in severe cases like Ella’s, a person’s fingers begin to fuse together, making it difficult to use their hands.

Joe Murray with his daughter Ella.

“Rare diseases affect an estimated 25 million Americans and are devastating for patients, their families and the nation as a whole,” said Petra Kaufmann, M.D., M.Sc., director of NCATS’ Office of Rare Diseases Research (ORDR). “Most of these disorders are serious or life-threatening, chronic, progressive, inherited — otherwise known as genetic — disorders.”

To help create more awareness, each year since 2009, NCATS and the NIH Clinical Center have co-sponsored Rare Disease Day at NIH. This event brings patients and their families together with researchers and policymakers to learn about the latest in rare diseases research, share patients’ perspectives, discuss issues important to the rare diseases community, and share new resources. While attending the 2016 Rare Disease Day at NIH, Ella’s father, Joe Murray, shared details of his family’s story in an NCATS video project.

“It fills me with great hope to know the NIH and its collaborators are fighting with their resource dollars and expertise to make the world a better place,” Murray said.

Murray credits the NCATS video with spreading awareness about EB and the work of the Dystrophic Epidermolysis Bullosa Research Association of America (debra of America), where he serves as director of government and legal affairs. In May 2017, Ella was profiled in The Washington Post.

It was through debra of America that Murray met Brett Kopelan, whose story very much mirrors his own. Kopelan’s daughter Rafaella, who goes by “Rafi,” was born with EB the same year as Ella. And like Ella’s days, Rafi’s include grueling and painful bandage changes and a struggle to get the calories needed to help her body heal itself and grow.

“It’s exhausting,” Kopelan said. “She is certainly a lot stronger than I am.”

Accelerating Progress for Rare Diseases Research

Brett, Rafi and Jackie Kopelan show off the strength in partnering with patients and families for smarter science (2017).

Kopelan recalls the moment when he learned why his daughter was born without skin on her feet and one hand. After hearing the diagnosis, he searched the internet for answers, only to learn that EB has no approved treatments. Research on the disease was in very early stages, and patients usually did not live past early adulthood.

“This is the worst disease I’ve never heard of,” Kopelan thought at the time. He set out to help speed EB research by getting involved with debra of America, and in 2011, he became the organization’s executive director. 

debra of America helps families in many ways, from providing an on-call nurse for questions and support to providing specialized bandages, which are expensive and often not covered by insurance. In addition, the organization funds research on EB treatments and holds conferences to foster collaboration and speed progress. NCATS provided support for debra of America’s research conference in 2015.

“Bringing together researchers from around the world with industry enables better protocol development, better recruitment — in essence, better drug development,” Kopelan said.

NCATS regularly partners with patient advocacy groups to accelerate progress in rare diseases research. Through these collaborations, NCATS has developed tools, resources and other initiatives featured in the Center’s latest video, which highlights the Genetic and Rare Diseases Information Center, Toolkit for Patient-Focused Therapy Development, and more.

Patients as Partners

Numerous clinical trials are ongoing for EB therapies ranging from wound creams to gene therapy to stem cell transplants. But there is still significant work to do for EB and the thousands of other rare diseases that have no approved therapy.

Ella Murray, Ava Navarro and Rafi Kopelan pose for the press at a debra of America event (2017).

Rafi is not sitting idly by waiting for a treatment. She learned to advocate at an early age, appearing on television and in commercials to promote EB awareness. She has spoken to everyone from the senior leadership of bandage companies to biotechnology companies to classes of medical students. All her public speaking practice paid off in her successful bid for student council in 2016.

As Rafi’s story demonstrates, patients play a significant role in raising awareness about rare diseases and uniting both the patient community and investigators for more efficient progress. A central part of NCATS’ mission is to partner with patients at every step of the translational research process and ensure that outcomes are relevant to and directly address patient needs.

“No one patient group can solve all the challenges in rare diseases research,” Kaufmann said. “By looking for commonalities among rare diseases and finding solutions for common bottlenecks in the translational research pipeline, we hope to speed treatments for families like the Kopelans and Murrays, as well as all patients who suffer from these devastating disorders.”

Posted February 2018