Duchenne muscular dystrophy (DMD) is a rare genetic disease that affects roughly 15,000 boys in the US. The word “boys” is used because the illness causes degeneration of the body and is fatal, without a known cure for it, most patients rarely reach adulthood.
Compared to diseases like the flu, 15,000 is a small number but for Cure Rare Disease founder Rich Horgan these numbers shouldn’t matter, because each of those 15,000 is a life worth saving, especially his younger brother, Terry, being one of them.
Sharing his story with us, Rich explains that growing up, he would watch other kids play and run around while his brother was growing weaker and weaker, and every doctor they went to would give them the same answer, that there was no treatment.
“In my eyes, it just didn’t make a lot of sense,” Horgan shares, “how can we do more than just monitor decline? Terry is one of the 30 million who are impacted and there’s a number of rare diseases out there, Duchenne is one of them, there are still over 7000 others.”
Like many kids, Rich didn’t know much about other diseases and didn’t quite yet understand why a hospital can’t cure his brother. As he got older and started asking bigger questions, the brutal reality dawned on him.
“Your mind starts to wonder the question why,” he shares, “and why is a really dangerous question because then you start to understand the answers to why. As you understand as a kid, Duchenne goes from sort of this abstract, theoretical concept to this very real, very practical thing.”
Duchenne muscular dystrophy was discovered in the 1980s by French neurologist Guillaume Duchenne, it’s been more than 40 years since then and comparing it to COVID-19, a fairly new virus, we seem to be closer to cure for it than DMD. Horgan says that the pandemic is a clear example of Pharmacoeconomics.
To make up for the funds put into research and development, the economy of drugs needs to address illnesses that cover a wider range of buyers; the rarer the disease the less likely it has a cure—or any research into it.
“This is going to kill my brother if nothing else changes.”
Growing up around business-minded parents, Horgan took that same fondness and entered Harvard Business School, still carrying that hope that there is a way to save his brother.
“Let’s make a lot of money so that we can take that money and put it to something that’s going to help Terry,” Rich said sharing his thought, “I got to business school in 2016 and it became very obvious very quickly that that wasn’t going to work, Terry just didn’t have enough time.”
His brother never left his mind and he considered the disease as something that was going to shake his life and the people he loved, but rather than sit and wait, Rich acted on hope. “I could never forgive myself for not trying,” he said.
With his Harvard connections, Rich was introduced to MIT’s Jonathan Fleming and later to Dr. Tim Yu, a researcher at the Boston Children’s Hospital, and with that came an even crazier idea that turned Pharmacoeconomics on its head.
“I realized we could actually take medicine, and instead of doing one-size-fits-all, we could actually take it down to the granular level of one-is-to-one medicine, what we call n = 1”
It was at this point that Rich rallied a team together, including his brother’s clinician of 15 years, Dr. Brenda Wong from UMass. He founded the nonprofit group Cure Rare Disease that collaborates with the FDA and other researchers, clinicians, geneticists and bioinformaticians, that aims to produce customized therapeutics.
“It was the question What if that started this,” he said, “we know it’s a journey of a million miles, but what’s that first step? What’s the second? When you look down [at each step] by the time you lift your head up, you can get really far, and that’s exactly what happened.”
He advises the listeners to never select themselves out of whatever it is they’re pursuing, and hang on to hope as they push forward to the next step
Rich’s younger brother Terry will later this year undergo treatment and be patient 001 for the DMD treatment.
More from Rich and Cure Rare Disease
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Rich will be giving a 30-minute session where you can openly talk to him about your experience with rare disease and he will try to help out.