The former CEO of the Defence Materiel Organisation, Warren King, was recently awarded the U.S. Secretary of Defense medal for outstanding public service, an award previously given to officials such as Hillary Clinton. When told he would be able to bring a guest to the ceremony, he had a surprising choice- Arturo Porzecanski, a professor at American University who he credits with helping to save his life through Rareshare, a Rare Genomics Institute website for rare disease sufferers. Mr. King and Mr. Porzecanski have an extremely rare illness called Systemic Capillary Leak Syndrome (SCLS), which causes plasma to temporarily leak out of the blood system. Episodes may cause death/permanent muscle damage, but mysteriously resolve themselves after several days. Through the Rareshare SCLS community page, which Mr. Porzecanski created, Mr. King learned about IVIG treatments, a type of immunoglobulin therapy that has been highly effective in preventing episodes from recurring. After telling his doctor about the treatment, she was able to secure it for him and other sufferers in Australia.
“Rather than give up in self pity, Mr. Porzecanski has became a community organiser for those of us who suffer from [SCLS’s] potentially debilitating or deadly effects, a fierce advocate for continued research and sharing of information on an international level, and a persuasive lobbyist for the identification of an effective treatment.” says Mr. King.
“It gave me great pleasure to put down everything I knew: all the critical articles, the world’s experts, information about custom shoes,” says Mr. Porzecanski.
“For me there was just a lot of support in knowing I was not alone.” You can read more about Mr. Porzecanski’s story in this 2009 Washington Post article.
There are hundreds of people like Mr. Porzecanski who have started communities for their rare diseases on Rareshare, to share the latest treatments, specialists, and their personal experiences. Rareshare now has over 8,000 active users, with more signing up every day. Come see if your rare disease has a community!
June 11, 2015