Photos and text used with permission of Brian Denger.
My sons were diagnosed with Duchenne muscular dystrophy (DMD) in 1997 and 1999, both at age five. There was no family history of DMD and I spent much time learning about the disorder, appropriate care and research. My sons' diagnoses happened at a time when there was no recognized standard of care for DMD and interdisciplinary clinic programs were unavailable to most families. I became involved with the Muscular Dystrophy Association and Parent Project Muscular Dystrophy, participating in fund raising, advocacy and took part in focus groups that preceded the establishment of the DMD program at a major medical center that served as a model for subsequent clinics.
The 1990s was a bleak time for DMD research. Being a multisystem disorder, DMD didn't fit into a specific Institute at the NIH and funding for research was limited. Much academic research focused on curative treatments, gene and myoblast replacement therapies and not expected to reach patients for decades. Like many parents, I sought alternatives and worked to raise awareness for the disorder and funding for research. The passage of the MD CARE Act in 2001 was the catalyst for many positive changes including a focus on translational research and near term therapies. Federal agencies coordinated research efforts which leveraged academic and private interest in DMD research. Based on my advocacy and interest, I was appointed Public Member for the Paul D. Wellstone MDCRC Steering Committee in 2002. The Committee's efforts are focused on the nine known muscular dystrophies. This compelled me to learn about many research opportunities in order to participate in committee discussions. I left that committee in 2008 to fill an opening on the NIH Muscular Dystrophy Coordinating Committee where I continue to serve.
The past decade has seen steady growth of clinical trials for new drugs designed to slow the progression of DMD. My sons participated in a number of drug studies, including studies to repurpose existing drugs and for new drugs specifically for DMD. My son Matthew succumbed to heart failure in 2013 related to DMD. His younger brother Patrick, now 21, is currently participating in a clinical trial for a new DMD drug. I've learned much about the process and the challenges investigators and sponsors face bringing a drug from bench to beside.
I learned about the Congressionally Directed Medical Research Program's Duchenne Muscular Dystrophy Research Program at a conference and expressed an interest in becoming a consumer reviewer. It was my belief that my family experience and involvement in a number of DMD activities made me well prepared for this role. I was selected to participate in the 2015 review process. Consumer reviewers rate the grant applicants' proposals based on the impact on patient care, research and clinical trials. I spent much time reading and analyzing the proposals before writing my review. In early January, all scientist and consumer reviewers participated in a teleconference to discuss their reviews before assigning a final score for each application. The scientist reviewers were genuinely interested in the how consumer reviewers rated each proposal. I was pleased that many of my comments or concerns with an application were in agreement with the scientists' statements. In the process I learned that my time was well spent and my work appreciated.
Last updated Friday, July 21, 2017