Listen: Brother helping brother to cure Rare Disease
"Welcome rich and Karen. Thanks for having us go to be here. Thank you for coming. I know it's a bit chilly today. So I'm glad that you braved the elements to come on out here anytime anytime. So can you tell us a bit about yourselves? And your personal stake in cure diseases mission. Rich let's start with you. Jor Happy to So as you mentioned I'm the President and founder of cure disease. I started the organization bit over two years ago because I have a younger brother. Terry who has a disease called Duchenne muscular dystrophy as you alluded to Terry's form of do Shan is quite rare. His specific mutation type is very rare and the difficulty. With that is he's not amenable to Clinical trials for the most part because of both his age as well as ambulatory status. These group of rare disease patients aren't left behind. So you grew up with Terry. Obviously was this sort of something that you would always in the back of your mind starting on organization like this or did that idea come to you later. It's a long answer. I was trying to give you the short version of it so Yeah I grew up at Terry. Terry's four years younger than I am. we both grew up in upstate. New York we're big fans of star wars and playing catch outside when he still could Years ago in the back of your mind whether you're me or somebody else. That's impacted by rare disease. You have the idea that you want to do something. Oftentimes you don't know what I struggled with the idea of. I don't know what to do for a long time till I had the opportunity to go to Harvard Business School and partake in the volcanic fellowship at Harvard. Business School and through that I was able to me really really incredible people who were doing really incredible things to advance science and advanced therapeutics that we're lifesaving and lifesaving and one of those individuals. Dr Tim Mu at Boston Children's hospital and that's really where the story begins. Cool so care and let's move on to you. How did you get involved with care rare disease? What's Your Story Shar Well my name is Karen Morales. I'm forty two years old and when I was twenty and a sophomore in college. I was diagnosed with extremely rare form of muscular dystrophy. Though at that time was called my Oshii myopathy so over the course of the last twenty years. I've spent a lot of my time and mental resources on ways in which to keep my health in a positive trajectory ways in which to avoid the most negative of diagnostic outcomes. That I was told about when I was twenty so as part of that I always stayed very open to what was happening in medical research and through the powers of facebook finally enough. I came across a video that riches organization did last spring so spring of twenty nine thousand nine hundred and in that video I heard about the power of crisper something that I had been monitoring. I just hadn't seen anybody doing it for muscular dystrophy given my background in advertising and marketing and now I own my own agency I reached out immediately and told rich. I wanted to talk to him that and turned into coffee and a phone call. And we've been working together ever since. Could you tell us a little bit more about muscular dystrophy? Karen we start with you. Know it probably has different developmental trajectories but can get like a baseline of what the disease looks like. Sure so. There are many types of muscular dystrophy. He's like large Disease categories for most of us. We are missing or our bodies stops producing effectively a certain type of protein. They're different types of protein in different disease states. In my case it's despair Lin In Dijon its destruction and the impact of what that protein does varies by disease type so in my case the digital muscles so the ones away from the center core of my body my calves and my arms weaken over time it for my particular type. It's not a life ending diagnosis. It's potentially a life altering diagnosis right. So there is a large level of variability between the different types. And how they actually present. But the common thread across all muscular dystrophy is is until now they've been untreatable. And the majority of folks facing these really rare diseases have to take a lot of their medical care into their own hands. And I think that is a shared history that both Terry and I and the other patients in this group all have. It's with a lot of personal trial and error and working to advocate for yourself that you're able to receive the care that you need because it is still in many cases an issue that doctors and hospitals and emergency rooms don't see that often So it can be easily mis read misinterpreted and sometimes cared for in ways that are actually have adverse reactions for the patients. Themselves has terry had a similar experience to Karen in terms of his disease. Strict trajectory Terry has had a similar experiences. Karen had in with regard to his disease. In fact he had a recent fall just over the holiday where he collapsed and broke both of his femurs and the difficult challenge was living in an upstate and rural part of New York that there wasn't an immediate care center nearby that could deal with not only two broken femurs but underlying condition of do Shannon and so a lot of work is put into connecting. Terry's neurologist whose doctor Brenda Wong at the University of Massachusetts in a collaborator of ours with the care team at that hospital in upstate. New York to ensure that the proper things were done that propofol was used for instance for anesthesia in instead of a gaseous form of anesthesia. And so it's little things like this that have very big ramifications that we need to be very cautious of across the spectrum of rare diseases. Not just the muscular dystrophy but more broadly taking into consideration the patient's perspective in the patient's point of view in conjunction with the with the care team Rather than I think the traditional dynamic of the doctor being sort of the superior and the patient being the one who who accepts the information advocacy in the hospital setting is of utmost importance because it really does mean the difference between life and death as we found with my brother? What was the incentive for setting up care rare disease? I mean there are many routes. You could have taken to help Terry. So what made you decide to pursue this one? That's A. That's a good question so as I mentioned earlier during my time in business school I had the chance to meet Dr Tim you so I got to know Tim through through a mutual friend of ours and understood what he was doing the process that he was developing to characterize the patient to develop therapeutic construct specific to the patient mutation and then the rapidly test those and then get into dosing the patient all within a year and accomplish the and so meeting him. Obviously the question of mine came to mind is how do we take this applications for Batten's disease? And how do we apply it to a neuro muscular disease? Such as Duchenne Orlin girdle or any of the other number for diseases. That need help and so it was through that process. That was the spark for cure disease. As sort of as a as a patient caregiver sort of you look for those opportunities of hope where you can drive towards something. Quick rather than the traditional ten years and two billion dollars development cycle which forces. Today's patients to likely not be able to see tomorrow's treatments simply because they take too long. Karen what was it about riches organization or rich himself that convince you to sign on and help them out as being on their board of directors. It's the jokes. It definitely was a combination. Having lived through a rare disease for twenty years myself. I have followed the medical research and I've been involved in any trials that were available having also spent the majority of my life working with fortune. Five hundred companies globally introducing new products and working in a combination of Silicon Valley and traditional. Cpg Brands I was noticing that across medical research. It felt like the systems were antiquated. I knew my gene defect in the early two thousands and at that time I was told that there would probably be a five to seven year. Lag Be four therapeutics for available as a patient. I saw riches approach as something that had faster outcomes than what I was used to seeing Across the market. When I met him and I realized that he had put together. Such an incredible team of world renowned leaders across different medical institutions. I immediately was in and I've been a huge supporter ever since I think what this organization is able to do. As a nonprofit drug company will truly revolutionize the way that patients can have hope when they're dealing with these catastrophic"