Over 7,000 diseases are classified as rare, meaning that they affect less than 1 in 2,000 people. But collectively, rare diseases affect as many as 1 in 12 Canadians.
Rare conditions are often under-studied, and patients usually have few or no tested treatment options, including the kind of resources and support programs that are typically available to people with more common conditions. Examples include specialized programs for education, rehabilitation, psychological support, and symptom management. One reason for this is that the small number of patients with any given rare disease is a barrier to effectively developing, testing, and disseminating such programs. Further, many people with rare diseases live far from major treatment centers. These individuals often receive local care from healthcare providers with little or no experience treating their disease. Patients who live in rural areas far from specialized care are often left to cope with their illness essentially alone and may even lack access to basic information about their disease.
Scleroderma is a rare connective tissue disease that can result in skin thickening and internal organ damage. Common problems in faced by people with scleroderma on a day-to-day basis include limitations in hand function and mobility, pain, fatigue, and appearance and mental health concerns. Scleroderma has no cure, and while research on the basic science of the disease is needed, so too is research toward improving quality of life and reducing disability in people currently living with the illness. Until recently, there was little research on the problems faced by people with scleroderma and even less on possible solutions.
Fortunately, members of the scleroderma community have been working with unwavering commitment to address this gap in care. The Scleroderma Patient-centered Intervention Network (SPIN) is an international collaboration of scleroderma patients and patient organizations, researchers, and clinicians. The idea for SPIN first originated in 2009 when scleroderma researcher Dr. Brett Thombs and then-President of Scleroderma Canada, Maureen Sauvé joined forces. Together, they were determined to find a way to develop effective programs for scleroderma, test them, and get them to people with scleroderma around the world.
SPIN’s mission is to work with people with scleroderma to identify their needs and prioritize research in areas most important to people living with the disease, and to develop, test and disseminate accessible interventions that improve quality of life and empower people with scleroderma and their loved ones.
The core tenets of SPIN’s strategy are: (1) the use of novel, economically efficient trial methods to conserve resources; (2) the development of online programs to reach as many patients as possible; (3) the involvement of a global network of scleroderma care centres and researchers, and (4) underpinning it all, mutual support and partnership with patients and patient organizations.
Now, ten years later, SPIN is an internationally-recognized network that has brought together over 150 members of the international scleroderma community, has raised over $3 million in funding, has built a cohort of over 1,800 patients from 45 centers in 7 countries, and is conducting large clinical trials of its online programs. SPIN currently works with 18 different patient organizations from Canada and around with world and partners directly with dozens of scleroderma patients who play key roles in all of SPIN’s projects.
On Rare Disease Day 2019, SPIN’s mission is just as pressing as when it was first conceived ten years ago, and this year’s theme of “Bridging health and social care” is particularly relevant to SPIN’s work. The online support programs that SPIN is developing will support people with scleroderma as they navigate the many problems that scleroderma presents in a day-to-day life, including medical, social, and psychological challenges.
SPIN is a unique example of a rare disease community that has come together to transform care in what was once a rare, frightening, and poorly understood disease. In the future, we hope that this collaboration will serve as a model for other rare disease initiatives around the world.