The “Intimacy” of Working in Rare Diseases

In one of my earliest interactions with a rare disease group, the mother of a child suffering from a  rare skin disorder described an incident that still influences me today. The mother was holding her daughter’s hand to cross the street, only to find that her child’s skin tore off her body, almost like a glove. As a parent I could not imagine what I would have done. The mother wanted to help me understand the impact of the disease on her child and on their entire family, as a way of introducing me, as a scientist, to the disease. With such fragile skin, my instinct was to avoid all physical contact for fear of hurting them. To my surprise, their response was the complete opposite. Patients held out their hands to shake or their arms to hug.  I was unprepared for such a personal  invitation into their world.

Having led the R&D efforts of Cydan Development for the last three years, I continue to be inspired by the strength of the families and patients with rare diseases. I am also mindful of the incredible differences in our relationship with rare disease patients and their families compared to other disease areas.  In my 20 years working in oncology, virology and inflammatory diseases, I met a total of ten patients. That’s right, only ten. In contrast, I connected with that number of patients and parents my very first rare disease meeting and subsequently hundreds of patients and families since then.

This “intimacy” within the rare disease community is unique. For the larger, more common diseases, the standard practice and expectation among scientists is that we are not to engage with patients. to not engage directly with patients, except during clinical trials, where they are test subjects. With fewer rare disease patients in any particular indication, drug development in the rare disease space, in contrast, requires that the scientist, clinician, patient organization, and patient collaborate. This intimacy leads to a better understanding of a patient’s disease at both the molecular level and its impact on their lives, enabling smarter drug development and the potential to accelerate the creation of therapies for patients. Scientists are often uncomfortable with the idea of interacting with patients – our jobs require an objective, analytical focus. These walls come down in the rare disease space, where patients are our guides to knowledge about their diseases.

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