Today, February 28th, is International Rare Disease day. This is an annual event designed to raise awareness of rare diseases for the general public, patients, and politicians or decision makers.
What’s a rare disease? Well, by definition a rare disease is a condition that affects less than 1 in 2000 people (or if you’re in the States, it’s a disease that affects less the 200,000 Americans). There are between 6000 and 8000 different rare diseases. Some are so rare that they don’t even have names. Wegener’s Granulomatosis certainly fits into this group. It is a condition that is estimated to affect 1 in 50-100,000 people. Lucky me! Before being diagnosed I had certainly not heard of it. Most nurses I spoke with didn’t know what it is, and most doctors will never see a patient with this condition throughout their entire career. It’s rare.
A rare disease has it’s challenges. Not many people suffer from each condition, so there may not be much research into causes or treatment of the disease. However, if you look at rare diseases as a group it’s obvious that a lot of people suffer from some sort of rare disease. It’s estimated that 50 million people in Europe suffer from a rare disease. Many conditions have similar symptoms and treatment regimes. Grouping diseases together allows for better research and treatment of diseases. I’m lucky enough to reap the benefit of some of this work already.
Recently (past few years) a drug called Rituximab was approved for treating Wegener’s. This drug is commonly used for patients with Rheumatoid Arthritis. It’s a new and expensive drug ($5000 per dose!) but it is meant to replace the harsher regime of heavy corticosteroids and chemo drugs. In my case it has worked well. Unfortunately it was still the second choice after chemo failed. My hope is that future research will prove that treatments like this should be standard and made available to everyone despite the cost. That is why I’m embarking on this fundraising trip. I hope I can make a difference and allow for some specific research to take place.