A Patient’s Roadmap to Curing A Rare Disease
Report from the Global Genes Summit: With community, innovative treatments and cures happen!
Having recently embraced my role as the new executive director of the Fibrous Dysplasia Foundation (FDF), I embarked on a steep learning curve. Fibrous dysplasia, McCune-Albright syndrome (FD/MAS) is a very complicated disease and the path to treatment can feel daunting. Luckily, I am surrounded by an extraordinary, smart team, a caring and engaged board of directors and world-class scientific and medical advisory committees. On my desk sits a sign, ”YOU GOT THIS” and yes, “I got this” because of the amazing team I’ve joined.
In my first few weeks on the job, I attended the Global Genes Conference where passionate people, excitement about the future of scientific advancement, and optimism all come together. Yes, in the midst of the challenges of the FD|MAS, there is optimism.
At the conference, Dr. David Fajgenbaum, author of Chasing My Cure, took the stage and shared his story of near-death relapses from his deadly and rare disease. He delivered his message: “We must reflect on our hopes and dreams and then turn those hopes and dreams into concrete action. I hoped for a cure and then realized that it would only happen if I did what I could to make it happen.”
Diagram pulled from Dr. David Fajgenbaum’s Castleman Disease Collaborative Network Approach
Not only did Dr. Fajgenbaum make substantial progress on his own fight for a cure, but he also shared a roadmap for other rare disease organizations wanting to avoid the pitfalls of traditional approaches. The Chan Zuckerburg Initiative has been instrumental in encouraging other rare disease communities to follow suit and provided copies of Dr. Fajgenbaum’s book). I read the book cover-to-cover in one sitting and it dawned on me, FDF is already following his blueprint! The Castleman Disease Collaborative Network approach involves identifying the stakeholder community, having a prioritized research agenda and recruiting experts to conduct the study.
There is an eight-step approach and FDF is already on the path. (See illustration) With FD|MAS community, innovative treatments and cures can happen!
We’ve built the community, identified top researchers IN THE WORLD, and are in the midst of prioritizing research. NIH has an ongoing natural history study and our patient registry is established. We’ve touched on all steps and we have an action plan. With you and your support, we can
- Fundraise: We need to continue our investment in information technology systems, skills training, fundraising processes, and other essential programs that allow our alliance to succeed.
- Network: We need to deepen our world-class scientific and clinical relationships whose cutting edge research forges treatment and eventual cure of FD|MAS. In addition, our collective work will inform the treatment and cures of other rare bone diseases.
- Sustain Research: We have an incredible asset in our Patient Registry, but we need to enhance and expand that resource to make sure the research related to FD/MAS is built on scientifically sound data with a secure foundation for longevity.
I invite you to reach out to me and to share your thoughts and ideas as stakeholders in our mission. As Dr. Fajgnebaum said, we can hope for a cure, but it will only happen if we ourselves take action. We cannot advance our mission without you.
