"I felt like someone was looking out for me"
Advancing rare disease research through partnership
Often, it's the parents of children with rare and poorly understood conditions who become prime movers in helping advance research and treatments for their kids and other families in similar situations. One way some organize and multiply their efforts is by creating a nonprofit research foundation dedicated to this mission, or by getting involved with one that already exists.
Through these efforts, parents can raise and distribute funding for research grants, produce vetted information and educational materials and create public awareness campaigns. But another vital aim of these rare disease foundations is creating working alliances in academia, industry and government to optimize partnerships in the United States and even abroad.
On Feb. 28, the virtually held NIH Rare Disease Day called attention to these often behind-the-scenes activities. One of the sessions - Our Journey With NIH: How One Rare Disease Organization Forged a Transformational Research Partnership – focused on the perspectives of a pediatric patient, a parent, a medical researcher and a nonprofit leader.
The rare disease discussed was juvenile myositis (JM), a serious autoimmune condition where the body's immune system attacks its own cells and tissues. Affecting under 5000 young people in the U.S., key features of JM include muscle weakness, fatigue and skin rashes.
The Cure JM Foundation was created in 2003 by a small group of parents and grandparents to address the fact that little was understood about this rare condition - and with an express aim of finding improved treatments and supporting patients and families affected by JM.
"Where does one start from virtual ground zero?" asked James Minow, Cure JM's Executive Director. "We knew we had to recruit other families and get them involved. We sought to bring the best medical and research expertise on board and finally, we had to establish partnerships with institutions like NIH to leverage the enormous research capacities they have. These efforts helped us get started."
NIH Gets involved
NIH's Dr. Lisa Rider, Head of the Environmental Autoimmunity Group in the Clinical Research Branch of the National Institute of Environmental Health Sciences, has produced a significant body of research on JM and other systemic autoimmune diseases. Her group has conducted a number of natural history and treatment studies of JM and related conditions and new studies are currently being designed. Dr. Rider credits Cure JM for providing numerous patient referrals for this research. "Our partnership with Cure JM has been instrumental in expanding our focus on JM research," stated Rider.
"They have helped support training for some of our research fellows, and also funded several key collaborations in our work, including support for an international myositis genetics consortium, studies of treatment responses in patients with JM, and work to develop new response criteria for myositis."
Rider spoke further about additional links between Cure JM, NIH and jointly-conducted external research studies with George Washington University, which have helped hone the training of pediatric rheumatology fellows, residents, medical students and visiting faculty in providing clinical care to JM patients.
The value of this alliance with NIH was publicly acknowledged at Rare Disease Day, when Cure JM expressed its thanks to the several NIH Institutes involved in "finding better treatments and cures for patients and families who are living with JM."
A Parent's Perspective and a Patient's Experience
Kristine Alderfer, recently elected as President of Cure JM's Board of Directors, spoke about her initial experiences to help her daughter Katherine, who was diagnosed with the condition at age 4.
"A rare disease foundation needs to focus on being part of the process that brings forth better treatments, and many rare diseases don't have approved treatments. For Cure JM, it made sense to partner with major research institutions and especially NIH. Cure JM learned that NIH was already conducting basic myositis research and was able to help direct investigations specific to JM," said Alderfer.
Kristine's daughter Katherine spared no detail in describing her daily experiences with JM – the appearance of a skin rash, being unable to climb stairs, choking on food and mood problems.
"My muscles were being destroyed and I was failing more every day," recalled Katherine. Once a diagnosis of JM was made, her family did more research and found a children's hospital in Indianapolis where she started infusions to stop further muscle deterioration.
"This was the start of 12 years of hospital stays and more treatments trying to figure out what worked best," Katherine added.
It was at this point Katherine's family connected with Dr. Rider at NIH through a study on twins and siblings that are discordant for autoimmune disease. "I am thankful for this and so glad that Cure JM supports research in the NIH studies I have been part of. Participating in research studies is something rare disease patients have to do if we are going to find cures for so many of these diseases. When we take part in research we are building our own future."
Katherine further observed that some JM patients respond better to existing treatments and further research is need to help those JM patients who are not as fortunate. "I had heard that no two kids with JM are exactly the same, but the doctors and researchers at NIH already knew this." She also feels good that while she is being helped, this same work is helping others like her. "When I came to NIH I felt like someone was looking out for me."
Kristine Alderfer's advice on finding help at NIH and other large research facilities is to start with internet research. A starting point is the Genetic and Rare Diseases (GARD) information center. She also urges parents to make full use of the NIH RePORTER, a valuable portal to aggregated information on the spectrum of NIH research. You enter the disease to find researchers studying the disease and which ICs are funding research for them. You can find published studies, even if they were not associated with NIH, and connect with those groups".
The NIH Clinical Center's Office of Patient Recruitment (OPR) can help with clinical trial participation – it's just a matter of contacting one of their information specialists to start the process.
Dr. Rider added "A rare disease foundation adds the dimension of bringing in families and finding strength in numbers and dedication to a cause. Cure JM has been very successful in engaging families and that translates into accelerated research participation. Seeing Katherine's outcome, and how she's doing with JM, has been so heartening to see through the years."
Sponsored by the NIH Clinical Center and the National Center for Advancing Translational Sciences, you can watch the 2022 Rare Disease Day panel discussions, rare diseases stories and more.
- Robert Burleson