Diagnosing and treating a rare disease is difficult on a good day. Length of time to diagnosis (often more than five years), lack of therapies (there are effective therapies for less than five percent of 7,000 known rare diseases) and small patient populations (Rare Diseases Community) all lead to significant challenges for the healthcare industry in rare disease management and support of these patient populations. Even more so than those suffering with common illnesses, rare disease patients are as unique as the disease with which they suffer, making patient support even more challenging. Not only do they require a more personalized approach, but the industry must also cope with the fact that these patients often self-educate about their condition, putting them ahead of the curve in understanding their illness. Beyond education, patients’ deep knowledge of their condition makes them prime advocates for their community’s needs, such as assistance with FDA approvals for orphan drugs, fundraisers for clinical trials, and more. (See Sidebar)

In order to raise awareness and initiate diagnoses of rare diseases, the industry should engage in multichannel awareness campaigns providing comprehensive educational support as early as Phase II development of medicines targeting a rare disease. In so doing, pharma also becomes a valued contributor to the Rare Diseases Community and gains its trust. It should be working in partnership with appropriate advocacy groups to better understand the issues faced by rare disease patients and then conduct online patient and HCP awareness campaigns and social media listening efforts. Outbound contact centers can target appropriate HCP groups and identify those most likely to have potential rare disease patients. Once identified, posters benefiting rare disease patients can be placed in appropriate physician offices and follow-up emails sent to these HCPs. It is critical to enable knowledge sharing, networking and collaboration between HCPs in order to best serve this patient population. Developing expert-led rare disease medical education programs and providing online and face-to-face networking opportunities can lead to the coordination of multidisciplinary care often necessary in treating rare disease and also more quickly bring to light new treatments as they are developed.