October is Gaucher Awareness month and support
groups are holding events and creating awareness in many novel and different
ways around the world. Educating the general public about rare diseases is
never an easy task.
Gaucher disease is just one in
approximately 7,000 diseases considered to be rare. There are roughly 350
million people effected worldwide from rare diseases, which is more than Aids
and Cancer patients combined. This means that the rare disease community is far
larger than the general public realise. So maybe rare diseases are not so
unusual and more common than we think!
It is far from easy reaching a
correct diagnosis when a rare disease is concerned. The patient and family not
only suffer great frustration through this long process, but there is also the
economic impact on health funds and personal financial hardships that incorrect
diagnosis, along with years of tests and seeing different specialists entail.
Often children and adults can suffer ridicule, as if they are hypochondriacs
seeking attention, when test after test rules out the common and most likely causes.
Only when finally someone is diagnosed with a rare disease, as if solving the
last piece of a puzzle, one can see the full picture. Great relief is found by
patient, family and treating doctor, now understanding the symptoms and
suffering, there is a feeling of being at long last, understood and acknowledged.
Arriving at this point, for some, sadly can take years.
How times have changed since I was
diagnosed with Gaucher in 1968 at the age of 5 years old. I was fortunate
to be diagnosed quickly only due to having older siblings who were
diagnosed first. Gaucher, being a genetic disease, once my brothers were
diagnosed, it was fairly obvious in my case, what to test for. Back then there
was so little information, no treatment available and patients suffered greatly
in the hands of doctors who simply didn’t know about this rare disease. Today
thankfully, things are very different, and I’m often pleasantly surprised to
hear a doctor I’ve not met before tell me he/she knows about Gaucher.
Rare, medium or well done? As it's October, I would have to say RARE! Take a look at my article in The Huffington Post.
Rare, medium or well done? As it's October, I would have to say RARE! Take a look at my article in The Huffington Post.
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