Transforming Health Care through Innovative and Impactful Research

Robert McDonald, M.D.
FY12 DMDRP Consumer Peer Reviewer

Let me give you an idea of our journey in Duchenne and the role of peer review, etc.

Our son Mark is the youngest of our nine children, our sixth boy. He started to walk at a normal time but was slightly delayed in other tasks compared to the rest of our children. By the time Mark turned two, we were beginning to question whether he had an orthopaedic or neuromuscular problem. Years earlier, in order to learn molecular, genetic and protein analysis techniques, I had briefly performed research in the laboratory of a scientist involved in muscular dystrophy projects. We would discuss DMD and I recall thinking that it was such a horrible disease that I wished never to be visited upon any family. Little did I know that fate would befall Mark.

As the years went by and I subsequently completed my medical and post-graduate training, I always paid attention to DMD - I could see elements, faint though they were, in Mark's activities. We requested he undergo a pediatric developmental examination and testing. It was difficult to "pull the trigger," and my wife and I prayed that our suspicions were wrong. I vividly remember the phone call from the lab informing me that Mark's CPK level was "triple-checked and too high to accurately measure" and the crushing, heart-wrenching agony I felt. It was not necessary for anyone to explain the consequences of the words that were ringing in my head and ripping through my soul. I went home to tell my wife, Annette. We cried and vowed to attack the problem with all of the strength and passion we had. That evening we let all the kids know, and they jumped in to help as well. We are very proud of our children's efforts to share with the community through various efforts including running marathons and even working in DMD research, as our oldest son, Thomas, is doing.

As luck would have it, the scientist I had briefly worked with in the past, Jeffery Robbins, Ph.D., was working at Cincinnati Children's Hospital. I tracked him down and called him that very day. He graciously listened as I described Mark's plight and put us in touch with Pat Furlong, the founder of Parent Project Muscular Dystrophy (PPMD). As a result, we were immediately able to get "plugged in" to a wonderful community of DMD/BMD patients, parents, scientists, doctors, and others working around the world to defeat the ravages of these diseases.

My experience as a researcher allowed me to quickly read hundreds of papers and reviews on DMD research and other disciplines with mechanisms germane to treating DMD/BMD. Through those efforts and involvement with PPMD, I became a reviewer for the PPMD scientific advisory committee, the TREAT-NMD Advisory Committee on Therapeutics (TACT), and other nonprofit organizations and pharmacologic players in the Duchenne space. I eventually joined the PPMD board and now serve as chairman, which helps me advocate even more with the FDA, Congress, and the NIH.

PPMD nominated me to serve as a reviewer for the DMDRP FY12 program last year and we reviewed many outstanding projects in January 2013. I was thrilled to see the dedication and commitment of this DoD program and the involvement of the consumers affected by this disease. The review process was thorough and professional and it was gratifying as a consumer involved in the process to have my voice heard and respected. This program, as well as other peer review efforts I have participated in, gives my family a sense that we can and are doing something to help all the young men with DMD. It serves to give families real hope against a very dark and tragic diagnosis.