In February of 2013, our healthy one year old son caught a cold which turned into fever and rash and lasted 15 days. After numerous blood tests, and time in the hospital, we received the diagnosis of Systemic JIA. Our lives were changed forever. Basically his immune system was attacking his body. The treatment was massive doses of steroids, and a new Ã¢â‚¬Å“biologicÃ¢â‚¬Â drug called Anakinra, which required daily injections and was intended to disrupt his bodyÃ¢â‚¬â„¢s inflammation response.
Since that day, we have lived with SJIA and understood what a tough disease it is, how little is known about the causes and although there are some new treatments (the biologics), there is no cure. And for a subset of patients, like our son, the biologics donÃ¢â‚¬â„¢t seem to work very well.
SJIA is a rare disease – in US about 100 of every 100,000 children have JIA (Juvenile Idiopathic Arthritis) and about 10% of those have Systemic JIA. There are only 200 Pediatric Rheumatologists in US, and even within their practice, this is one of the rarer diseases.
RashmiÃ‚Â and I are entrepreneurs, we donÃ¢â‚¬â„¢t accept the world as it is, we try to change it, to make it better. This is what we did when we founded SlideShare, and Uzanto before that.
While we see the bleak research landscape forÃ‚Â SJIA (no new drugs around the corner), we also see opportunity. Its a rare disease and patients are scattered all over the world. There is a core group of researchers who are interested in SJIA. But its hard for them to run studies (because of lack of participants). There is no patient organization advocating for this disease, and connecting patients & researchers.
In recent years, patient organizations for specific diseases have had a huge impact on the course of research (e.g, Cystic Fibrosis Foundation). More recent examples of parent run foundations like the NGLY1 Foundation have gone after the genetic basis of a disease. We are inspired by the many examples of rare disease organizations, especially the parent led ones, and will do our best to have a positive impact on the lives of Systemic JIA patients.
We have been running the Foundation for a few months now, have funded a few research studies. The first conference supported by the Foundation is happening this weekend. We hope to pick up pace with Foundation activities in the next few months and have an impactful 2015.
Jon Boutelle & Rashmi Sinha, SJIA Foundation