Like most patients with polyostotic fibrous dysplasia, I was diagnosed in childhood. As such, this has been a constant "guiding" force throughout my entire life. I cannot think of anything polyostotic fibrous dysplasia has not had a direct or indirect impact on. I was diagnosed in the 1950s, when we had no understanding of the disease and how to treat it. It was also a time when there were no "adaptive activities." As such, you either participated in all the sports and activities that the "normal kids" did, or you were "not normal." Not wanting to dissociate myself from siblings and neighborhood friends, I took the approach that if I could not directly participate, I could "help" in some ancillary way so that I could still be involved with my peers; eventually, I was officiating track and field at the youth, interscholastic, intercollegiate, and international levels. This "I can help" attitude also led me into the field of education and, eventually, into this field of medicine — specifically into the field of orthopaedic surgery. Obviously, in the field of medicine, I was drawn toward gathering as much information as I could on polyostotic fibrous dysplasia, this "rare disease."

With the development of internet bulletin boards, email, social media, and other electronic means of communication, I was able to connect with what eventually became the Fibrous Dysplasia Association, which has now become the Fibrous Dysplasia/McCune-Albright Syndrome Alliance (FD/MAS Alliance). It has been phenomenal to watch this organization grow from a couple of dozen people interacting on internet bulletin boards to having in-person meetings and small meeting rooms in New York or Washington, D.C., to spawning similar organizations literally worldwide and raising hundreds of thousands of dollars for research. Within the FD/MAS Alliance, I serve on the Scientific Advisory Committee, the Medical Advisory Committee, and the Board of Directors. As an individual who both treats fibrous dysplasia (FD) and suffers from FD, I regularly speak at the Patient and Family conferences from one or both viewpoints.

I first became aware of the Congressionally Directed Medical Research Programs and the Peer Reviewed Medical Research Program when the FD/MAS Alliance contacted me about being a peer reviewer in fiscal year 2020. As a practicing physician, I am not involved in basic science research and so I serve as a consumer reviewer. This has allowed me to "look inside the ivory towers" of academic research and medicine. It was very enlightening and very enjoyable to discuss the proposals with the other reviewers, both the consumer reviewers and, more importantly, the scientific and technical reviewers. Each of us looked at the proposals from totally different viewpoints and discussed the merits and weaknesses. It is interesting to see the breadth and the depth of the basic science, and to a lesser extent clinical science, investigation into the musculoskeletal system.

The peer review process heightened my awareness of the rigor involved in developing a research project to properly probe the basics of skeletal development, and the extent of the interactions of seemingly unrelated physiologic systems on bone and skeletal development. The more we can understand what controls bone growth and how we can control the genetics of the mutation that causes FD, the sooner we will be able to develop treatments or cures.

As I have polyostotic fibrous dysplasia, I have experienced the disease from both sides, as a treating physician and as a patient being treated. Trust me that orthopaedic surgery is "far better to give than receive.” Having served as a consumer peer reviewer, I would encourage the patients and families to help support the research fundraising efforts by FD/MAS Alliance and other organizations. There are tremendous advances being made in the understanding of not only what the pathophysiology of FD/MAS is, but in being able to attack it at the cellular level. For the researchers and clinicians out there, my involvement with the FD/MAS Alliance and the International Consortium has shown me that it is not as “rare” as we once thought. There is a significant population needing your research and advancement in treating all aspects of the disorder.

The views, opinions, and/or findings contained in this paper are those of the author(s) and should not be construed as an official Department of the Army position, policy, or decision.

References:

1. Fibrous Dysplasia/McCune-Albright Syndrome Alliance (FD/MAS Alliance). https://fdmasalliance.org.