Wendy White has been recognized as one of the 100 most inspiring people in pharma for her work with rare diseases. Her company, Siren Interactive promotes the connection between research and patients. Today she tells us, why rare diseases should matter to everyone.
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If you want to know what healthcare will be like tomorrow, take a look at rare diseases today.
Why would diseases that affect less than 1 in 2,000 people lead the way for the other 1,999? Consider this: there are nearly 7,000 rare diseases and together they impact 25 to 30 million Americans.
Each one of these diseases requires a unique approach in terms of diagnosis and treatment and what we’re discovering is how effective this approach can be for more common diseases. Personalized medicine, based on our growing understanding of genetics, is impacting everything from how we treat colorectal and breast cancers to the dosing of warfarin.
Innovation happens at the margins, as Bill Gates famously noted. Change takes place not in those areas of knowledge where there are tested protocols and entrenched solutions, but where knowledge and solutions are lacking. In medicine, rare diseases are that growing edge. The knowledge and methods coming out of the rare community benefit us all.
Statins Were Discovered via Rare Disease Research
Sharon Moalem, MD, PhD, the award-winning author and geneticist, has created a video explaining the often overlooked fact that rare disease research unlocks cures for everyone.By studying people with rare genetic disorders, researchers gain invaluable insights into how our bodies function; opening up avenues for new medical discoveries and groundbreaking treatments for the rest of the population. A classic example is research on familial hypercholesterolemia (FH) that led to the development of statins that block the enzyme HMG-CoA reductase and help reduce elevated cholesterol levels. As Moalem says, “The rare informs the common.”
Technology Speeds Diagnoses
One of the biggest challenges for rare disease patients and the doctors who care for them is diagnosis. According to the Shire Rare Disease Impact Report it takes an average of 7.6 years in the US and 5.6 years in the UK for a patient with a rare disease to receive a proper diagnosis. Through no fault of their own, physicians find it impossible to keep up with the volume of new information. Donald Lindberg, director of the National Library of Medicine, once said, “If I read and memorized two medical journal articles every night, by the end of a year I’d be 400 years behind.”
The rare disease community is meeting the challenge head on with the help of technology designed to aid diagnosis and search engines, like Find Zebra, that may have broader application for more common diseases. As new technologies, such as DNA sequencing, are perfected they also become more affordable—enabling widespread use.
The Healthcare Value of Empowered Patients
Rare communities are models of what can be achieved by empowered patients. We recently conducted a workshop at the World Orphan Drug Congress, bringing together leaders from industry, patient groups, and healthcare professionals to talk about trends in patient advocacy. The discussion was wide ranging, touching on the role of patient organizations in filling clinical trials, the need for pharmaceutical companies to develop compassionate use policies, examples of advocacy groups working with the FDA to determine secondary endpoints, and foundations receiving orphan drug designations.
Ten years ago, this level of collaboration among researchers, industry, and patient groups would have been surprising. But today, it seems more like a model of the future. In their Health Policy Brief, the Robert Wood Johnson Foundation noted that there is a growing body of evidence demonstrating that patients who are more actively involved in their healthcare experience better health outcomes and incur lower costs . Perhaps more than anything, the rare disease community has contributed to the improvement of healthcare by changing the way we see patients from passive recipients of care to partners in a relationship with better health as the end goal.
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Wendy White, Siren Interactive
Wendy S. White
Founder and CEO, Siren Interactive
Wendy founded Siren Interactive in 1999. For more than 14 years across more than 30 disease states Siren has had 1 focus, finding rare disease patients and connecting them to appropriate therapies. She is the recipient of the 2011 Manny Heart Award. She served as a board member for the National Organization for Rare Disorders (NORD) for 4 years, is a current board member and the President-Elect for the Healthcare Businesswomen’s Association (HBA), a board member of Global Genes, and part of the Chicago Life Sciences Consortium executive advisory group. In 2011, Wendy led the collaboration with 12 fellow rare disease caregivers to co-author Uncommon Challenges; Shared Journeys: Stories of Love, Hope and Community by Rare Disease Caregivers.
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