Raise and hold hands at 12 noon today and show your Solidarity with rare disease patients around the world.
The main purpose of Rare Disease Day is to make more people aware of the 6000 – 8000 rare diseases that affect people around the world. A rare disease is one that affects less than 1 in 2000 people; most are life threatening and the majority have no cure.
This day has particular resonance in my family as almost a year ago to the day my partner was diagnosed with a rare disease called Wegeners Granulomatosis. This is a cardiovascular disease that causes inflammation of the blood vessels and can affect all tissues and organs in the body.
One of the issues with rare diseases is that, well, they are rare. Doctors do not come across them very often, so diagnosis could take a long time as the more common causes are ruled out. Neil was displaying symptoms of Wegeners for nearly a year before it was diagnosed and we are very lucky that his vital organs escaped unharmed during that time. It was only down to a very observant doctor who had heard of the disease and was able to connect his similarly unrelated symptoms of loss of hearing, severe headache and eye problems that he was able to start his treatment before his health deteriorated rapidly. Another month and he could now be on dialysis waiting for a kidney transplant. Rare Disease Day looks to make people, including health professionals, more aware of these diseases.
Another outcome of raising the profile of rare diseases will hopefully be that more money goes towards research into their causes and the development of new treatments. Neil was lucky enough to be given a new and very effective drug and is now in remission, although he will need to stick with the drugs he is on for the rest of his life. Only a couple of decades ago, the future for Wegener’s sufferers was bleak, with the only drugs available being extremely toxic and very often the cause of mortality. Even today, the first paragraph on the Wikipedia page of the disease reads: ‘Five-year survival is up to 87%, with some of the mortality due to toxicity of treatment’. When Neil rang me from hospital following his diagnosis, of course the first thing I did was to read this. To say I was mortified is an understatement! Another example of why rare diseases need more public awareness.
Raising the profile of rare diseases through the events of Rare Disease Day will be a small but vital step-forward. Anything we can do to help accomplish this will make a difference.
It may be too late to organise an event related to rare diseases in your school but it could be something you would consider doing next year, or even as an event in the upcoming Science Week. One idea I had would be to divide a class, tutor or even year group into smaller groups, each representing one disease. Students could research their disease, create posters to raise awareness which could be displayed around the school and give presentations to students in other year groups. They could even organise fund-raising events for a charity supporting sufferers of the disease.
The Rare Disease Day website
List of rare diseases with links to sites containing further information
Website of Vasculitis UK which was established, by family and friends, in memory of Stuart Strange who had started raising money for research into Wegener’s Granulomatosis.