Suffering from Gaucher disease a rare
genetic disorder, I understand only too well what it's like being a
minority. There are approximately just 10,000 known Gaucher patients in the world.
Having a rare disease may sound special, but believe me, it's not. Finding fellow sufferers, a support network, doctors who understand and have experience with a particular rare disease, treatments and medications that due to a small market are often
highly expensive, make things very difficult indeed. When people ask what illness
I suffer from, I silently take a big deep breath, before launching into an
explanation about a rare disease I know they have never heard of. Over the
years I have got the description down to a fine art and can give a concise account of Gaucher, leaving the person informed but not
overwhelmed by too much information. At least most have heard about Parkinson's , even if they do not fully understand how debilitating this common disease is.
You probably are wondering what
Mesothelioma is, and like Gaucher I am sure many have not heard of this rare
disease. I happened to come across a remarkable woman who has survived
Mesothelioma, which is a very rare deadly cancer with extremely low survival
rates. As I began to read Heather's story, I realised that despite this deadly
form of cancer being very different from Gaucher disease, we did in fact share
much in common, and are both on a campaign of sorts to bring greater awareness
to the general public. A rare disease, by its very virtue, has problems of
its own that other common diseases do not bear. Going into a hospital where
nurses and doctors have never heard of the disease you suffer from, is a
frightening experience, and until you are in capable hands who understand a
rare disease, precious time can be wasted and life threatening.
No comments:
Post a Comment