Last updated 6 Jun 2019, 06:54 PM
RareShare celebrated its 10th anniversary this year. It started in early 2008, when two generous, idealistic men, David Isserman and Eric Steele, thought there should be a better way to bring together rare-disease patients, families and healthcare professionals to share knowledge, personal experiences and find emotional support. The idea took hold, as the web-based platform grew its membership and expanded its informational content. In 2014, RareShare was transferred to the Rare Genomics Institute, which continued to develop the website with its team of dedicated volunteers.
One of RareShare’s original communities and currently its largest is for Systemic Capillary Leak Syndrome (SCLS). It was founded by Arturo Porzecanski, its present leader. He was diagnosed in 2005 and confronted what could be a lifetime of episodic pain, disability, and negative repercussions on his job, family and friends. The standard of care to prevent episodes of SCLS was high doses of theophylline and terbutaline, medications with terrible mood-altering and other side effects. In a published review, only about one-fourth of SCLS patients benefited from the treatment. Arturo tracked down and managed to connect with a handful of SCLS patients, but the effort at creating community soon fell apart as one by one they succumbed to SCLS-related episodes or complications. In May 2008, he stumbled onto RareShare and he seized the opportunity to start a SCLS community on the platform. Despite being an exceeding rare, one-in-a-million condition, it only took about two years for RareShare’s SCLS community to reach 100 members, and a decade to reach 350, mainly from Europe and North America. One measure of success has been the emotional support for patients and caregivers, as well as the dissemination of vital information on the diagnostic, management and treatment aspects of SCLS, which by testimonials have had life- and limb-saving impact. Just as important is the role that RareShare’s SCLS community has had in finding and disseminating information on what has become the best preventative treatment for episodes of SCLS – intravenous immunoglobulins (IVIG).
As a symptomatic patient without effective treatment options who was experiencing episodes more and more frequently, Arturo Porzecanski combed the medical literature and reached out to researchers searching for potential breakthroughs. He eventually found one – Dr. Zahir Amoura at the Hôpital Universitaire Pitié-Salpêtrière in France, who had observed that two SCLS patients treated with IVIG exhibited milder symptoms, and that others were also reacting well. It took years of persistent follow-up to expand upon these initial observations. RareShare played a key role in disseminating the early findings to other researchers and ultimately validating IVIG as a highly effective treatment in published reports. During 2008-10, Arturo and several other RareShare community members became experimental recipients of the IVIG treatment, and all of them remain episode-free and alive today. While not curative, IVIG has made SCLS a manageable disorder for most patients. This story about the power of community to provide emotional support and knowledge dissemination about a rare disease, leading to an effective treatment, is a shining example of the power of the RareShare platform to provide a life-saving experience for many of its nearly 1,000 virtual communities.