I sit here in my home office on a snowy January day in Maryland, and I think about where I am at now in life and how I got here. As a naïve, newly minted Ph.D. in 1980, it wasn’t inevitable, or even predictable, that I would ultimately join all of you in the fight to end Duchenne. But, I’m really glad that I’m here and I’ll tell you a bit about the path along the way…
As the son of a pharmacologist and a secondary school librarian, I decided in elementary school that I was going to ‘do science.’ The interest in muscle biology came from my Ph.D. mentor, who said that I might want to take a look at these odd skeletal muscles that move the eyes. While exploring the biology of eye muscles was interesting in and of itself, the real trigger for my career path was a publication showing that the eye muscles are completely spared in boys with Duchenne. Contrary to popular belief, science doesn’t have many ‘Eureka I Found It’ moments; key discoveries generally come about when one looks at data and says ‘that’s odd!’ Short story on the eye muscle research—we ruled out a lot of options, but never quite figured out exactly why this unique muscle group had a novel response to Duchenne, but my ‘that’s odd’ moment immersed me into Duchenne. The 21 years in university faculty positions taught me a lot more than biology that allowed the next step.
The next step was not predictable; rather it was counterintuitive. Tenured full professors with solidly funded, productive laboratories simply do not leave research that they love for a role in government bureaucracy. But, there was an opportunity to go to the National Institutes of Health (NIH) and, rather than doing research myself, facilitate the funding of research across a range of neuromuscular diseases, including Duchenne. The draw was that I could have an impact considerably beyond what my own research lab could ever accomplish at Case Western Reserve University—I knew that I could be a facilitator for many other researchers. Given considerable latitude to self-define my NIH job, I found that I could not only help people get grants, but could identify gaps, facilitate partnerships, and help lead the field toward a better understanding of disease mechanisms and the launch of therapy development programs that built upon those mechanisms. So, for the second time in a career, I had a dream job…and it brought me into contact with people like Pat and organizations like PPMD.
I’ve now ended what has been just over 10 years at the NIH. Partnering with academia, advocacy, companies, government, and patient and family stakeholders became my passion and the results of those efforts have been incredibly rewarding. Through increased interactions with patient advocates, patients, and their families, it became more and more apparent that I should, one more time, walk away from a job that I love and join all of you. Pat offered a leadership role with PPMD and I realized that this is where the path through a Ph.D. program, several academic faculty positions, and the NIH was leading all along. PPMD’s approach to addressing the full gamut of issues important to the community, from research to care considerations to FDA guidance to clinical center certification to transitions into adulthood, was a particularly important consideration in my decision to join.
The challenges for the field include often disconnected and redundant efforts that waste resources and something even more valuable…time. People living with Duchenne simply don’t have time. I hope to help the Duchenne community in fostering a culture of increasing communication and partnership. No one individual or organization has the expertise and resources to end Duchenne on their own—the only way forward is to knock down the silos that sequester ideas and data and commit to pulling together, collaborating to help people living with Duchenne. I can imagine no higher calling than working toward this goal with all of you.