Tracy Hart, chief executive officer of the Osteogenesis Imperfecta Foundation, serves as chair of the Rare Diseases Clinical Research Network (RDCRN)'s Coalition of Patient Advocacy Groups. Here, she talks about her work as a rare disease advocate, the founding of the Brittle Bone Disorders Consortium (BBD), and their work in rare disease patient advocacy and research.
How did you get involved in advocacy work for rare diseases?
I’ve been in the not-for-profit world a long time. A journalism major, I began by working in media for a CBS affiliate in Rochester, then worked for Easter Seals, United Cerebral Palsy Foundation, and The Arc. I spent ten years at the March of Dimes where I met families with different disorders, including some rare diseases. I had a connection with a family many years ago whose daughter had osteogenesis imperfecta (OI). When the job at the OI Foundation (OIF) came open, it felt like a natural fit.
Tell us more about the OI Foundation.
"Our mission is to improve the quality of life for those living with osteogenesis imperfecta through research, education, awareness, and mutual support."
OI, also known as brittle bone disease, is a group of genetic disorders that affect about 50,000 people in the United States without regard to race or gender. People with this condition have bones that break easily, often from little or no trauma. They can also have dental problems, hearing loss in adulthood, pregnancy complications, and other problems we’re still discovering. They are more vulnerable to lung problems like asthma and pneumonia. With good medical management and supportive care, the majority of people who have OI will lead healthy, productive lives and can expect an average lifespan.
Our mission is to improve the quality of life for those living with osteogenesis imperfecta through research, education, awareness, and mutual support. Our mantra is, “We’re here when you need us.” OI is a disorder across the lifespan. We’ll have parents who call when their child has a new diagnosis and we can offer them our newborn toolkit. We may not hear from them again until their kids are going to school, when they’re having trouble with their individualized education program or IEP. And then we may hear from people when they “graduate” from pediatric care and are looking for experts that see adults with OI.
Before I joined the organization, OIF was very involved with the National Health Council and adhered to all their standards. I was fortunate to step into a group with a great infrastructure already in place. We now have a team of 10 people and a budget of a little over $2 million a year, most of which comes from grassroots fundraising. We try to stay nimble, only planning one year out, and we always raise money first before launching any projects.
Much of our funding supports our Information Center. We provide a health educator and a program director that are available to answer questions both online and in person. We host a national patient conference and an annual scientific conference. Our conferences bring everyone together in a central location where patients can, for example, seek individual medical consultations, giving them access to experts they couldn’t otherwise see.
Patients are at the center of everything OIF does. One of our major efforts now is tackling the diversity problem in rare disease diagnosis and research, seeking the best way to reach under-represented communities.
The COVID-19 pandemic has had a major impact on our work. We quickly pivoted our services to a virtual environment, working hard with our experts to answer questions and provide resources for both patients and clinicians. All of our experts supported our work and were eager to help. We are all so connected, we were able to respond quickly.
How is OIF engaged in the Brittle Bone Disorders Consortium?
"Joining the RDCRN was a game changer for us; it put us at a very different level. We suddenly had the funding to conduct coordinated clinical research across more centers."
Research is a key part of our mission statement and has always been central to our activities. We wanted to be part of RDCRN when the network launched but were turned down in the first application cycle. We started fundraising on our own and used our money to launch a natural history study linking three different clinical research centers.
That work connected us with Brendan Lee, MD, PhD, of Baylor College of Medicine, who joined our effort to establish the Brittle Bone Disorders Consortium (BBD). He agreed to help us through the next RDCRN application process. By the time we applied for RDCRN funding again, we had something to offer. We had those sites, some preliminary data, and were ready to go.
Joining the RDCRN was a game changer for us; it put us at a very different level. We suddenly had the funding to conduct coordinated clinical research across more centers. Through the grant, a study coordinator was funded at each site, allowing more sites to join this effort. We were then able to conduct significant clinical research that benefited from all the basic research that had been done and from our robust natural history study.
In research, a little money can go a long way when you connect the right people. Many BBD discoveries have come from listening to patients. For example, since many OI patients also have intrinsic lung disease, we launched a supplemental study on pulmonary function. This research has become even more important as we respond to COVID-19.
In another case, a frequent OIF volunteer nearly died during childbirth due to an undiagnosed bleeding disorder. Her experience led to the discovery that her problem was related to her collagen defect unique to OI and we began studying that directly. A review of our registry data allowed researchers to connect the dots and recognize that this was a more frequent problem. When we told the patient about this research, she just wept. She said, “I don’t want anyone else to go through what I just went through. I almost died because we just didn’t know.”
We were also fortunate in 2019 to win a grant from the Patient-Centered Outcomes Research Institute (PCORI) focused on expanding engagement within our community. Our goal is to improve patient care by engaging all stakeholders—patients, caregivers, clinicians, and researchers—in identifying and prioritizing current gaps in care and treatment. So much of this is just connecting people.
What work are you doing to train physicians and the next generation of researchers?
"We urgently need to answer the question, 'Who is the next physician that will take the place of today’s experts?'"
We needed materials targeted at frontline clinicians who see OI patients during the course of their practice, so one of the first things we did as part of the BBD was develop a toolkit for clinicians. That toolkit has grown through the years. We also connect front-line clinicians with specialists who can consult on specific patients.
In 2018 we launched the Rare Bone Disease TeleECHO program and in 2020 launched the OI TeleECHO program. TeleECHO is a web-based initiative that brings interested parties together monthly through Zoom to listen to a 30-minute didactic presentation on a specific topic. Then, those on the call spend the next 30 minutes reviewing a case presented by a colleague that is requesting support. To date, the programs have attracted hundreds of clinicians and scientists interested in learning more about OI and rare bone diseases.
We also urgently need to answer the question, “Who is the next physician that will take the place of today’s experts?” Recently we’ve pivoted to focus on funding early career researchers. Our young investigator program is called the Michael Geisman Fellowship, named after our founder’s son who passed away. We don’t want a gap in expert care. We fund two to three new young investigators annually with two-year grants of $50,000 each per year.
Last November, we held a virtual BBD Young Investigator Symposium. The doctor who led that was one of our first Geisman fellows. It was lovely to see our efforts come full circle in that way. We opened that event up to researchers of other bone diseases beyond OI. If someone is doing really fabulous work in a related disorder, and it’s a pathway one of our researchers is studying, let’s get them together and collaborate.
Our more senior researchers are fantastic mentors and we’re seeing so many great junior researchers come from their labs. In addition, young investigators coming from different labs are bringing in fresh perspectives. They’re using technology differently as well. These young investigators have been raised in an atmosphere of team science, so collaboration is very comfortable for them.
What are your goals for the Coalition of Patient Advocacy Groups?
"I so greatly admire the work of all the patient advocacy organizations involved in the RDCRN. Selfishly, I see this as an opportunity to learn from my colleagues and to be a part of a group that “gets it” when dealing with the challenges of running a rare disease organization."
I absolutely see the value of “team advocacy.” I steal so many ideas from my colleagues—with permission of course—and I’m happy to share as well because it’s all for the common good. I so greatly admire the work of all the patient advocacy organizations involved in the RDCRN. Selfishly, I see this as an opportunity to learn from my colleagues and to be a part of a group that “gets it” when dealing with the challenges of running a rare disease organization.
I did not come into this role as a patient or a parent, but rather as a professional manager. I believe in our mission, but I’m at a different place from someone who has lived the rare disease experience. I absolutely learn from folks who have that personal connection.
I love being able to connect people and see them be successful. Many patient advocates are scientists themselves or have industry experience. There is a great deal of valuable expertise in our group.
OIF is the only patient advocacy group connected with BBD. I am on the executive committee of the BBD and listed as a co-PI on the grant. It has been wonderful to be given that level of status, involvement, and responsibility. The fact that we are also funding some of the research also gives us a bigger voice. If we’re going to put our money in, then we absolutely will have a seat at the table—and there was no discussion that we wouldn’t be partners from the beginning.
One of my goals is to make sure that patient advocacy leaders have engagement in research as a top priority. The patient community trusts us to speak for them. If we’re not demanding a seat at the table when research is being discussed, we’re not doing our jobs. The patient should be at the center of all the research.
The Brittle Bone Disorders Consortium (BBD) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). BBD is funded under grant number U54AR068069 as a collaboration between NCATS, the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Institute of Dental and Craniofacial Research (NIDCR).