I have a disease called Atypical Hemolytic Uremic Syndrome (aHUS). This disease is classified as an Ultra Rare Disease - less than one in a million adults are estimated to be affected. The problem with having a disease this rare is that not much research happens. Since the estimated number of people who would benefit from the work done by doctors is only a handful, there is less excitement, I presume!
Contrast this with some of the more common causes of kidney failure. You will have many more people who would benefit. Fair enough!
Where does that leave people like me though?
Well, there is some work happening now. There are a few groups of people who have started giving aHUS some love. Prof. Bernard Kaplan of the Children's Hospital of Philadelphia, Dr. Tim Goodship and his team in University of Newcastle upon Tyne, Prof. Giuseppe Remuzzi and his team in Mario Negri institute, Italy, The University of Iowa in the US are all doing some really great work on this disease.
Since the number of people who would benefit from the drugs that could treat such diseases would also be very low, the drugs are also very expensive.
Soliris (the brand name for the drug eculizumab), that is used to treat my disease, aHUS, has been declared by Forbes as the most expensive drug in the world today! Talk about luck!
This takes it completely out of reach for people like me. For the people lucky enough to be in countries where insurance takes care of even such drugs or countries where the Government covers healthcare, this drug is helping many people get back their lives which had been badly affected by aHUS.
The total number of people affected by a rare disease is huge. Its just that the number of people having each disease is tiny! There is a concerted effort under way in many countries to work together since the issues faced by most of these people are the same.