FY14 DMDRP Consumer Peer Reviewer
Our son Christopher is a textbook example of a boy with Duchenne muscular dystrophy.
With the exception of his relatively early diagnosis at age 3, Christopher’s disease course has mirrored the averages that we see in natural history studies of Duchenne progression. He lost the abilities of climbing stairs and rising from the floor at age 9, the ability to run in any capacity at 10, the ability to rise from a chair at 11, and recently, the ability to walk at age 12. It is our hope that a new dawn is on the horizon and that the next milestones of our son’s disease progression will be slowed or even halted.
Immediately after diagnosis in 2004, I became very active in the Duchenne community as an advocate, a fundraiser, and a communicator, but my primary interest is in research. I have followed every avenue of Duchenne research and I always stay up to date with the latest ideas and advances. I have worked with many Duchenne organizations over the years and have a real understanding of our disease community and its goals and concerns.
In recent years, a lot of research focus has been on exon skipping technology as a way to treat most Duchenne mutations. While I have a very keen interest in this technology, my son has a rare disease-causing mutation that may not easily or quickly be addressed by exon skipping. This has kept me even more vigilant about emerging therapy approaches and cutting-edge technology.
The Duchenne non-profit organization Team Joseph nominated me as a Consumer Reviewer for the 2013 Duchenne Muscular Dystrophy Research Program (DMDRP) and our panel reviewed over a dozen outstanding projects. The Department of Defense’s (DoD’s) commitment to this program and the stringent review process were extremely gratifying and imparted to me the knowledge that many people are working very hard to help give those diagnosed with Duchenne a chance at longer and healthier lives. The consumer voice is vital when considering therapies in diseases like Duchenne and my voice was heard and respected throughout the DMDRP grant review process.
A Duchenne diagnosis comes with a lot of fear and uncertainty and for me, participating in clinical trials, advocacy, and programs like the DMDRP are constructive ways to fight against the disease that threatens my son’s life. I am very proud to participate in this program.