I wear two hats, for apart from living with Parkinson’s, I was born with a rare disease called “Gaucher”. I can hardly believe an entire year has gone by and here we are at the end of February, marking “Rare Disease Awareness Day” once more. Bringing attention to rare diseases today, hopefully will improve better understanding of the many complex difficulties, that go hand in hand for patients and their families.
When I was growing up, most had not heard of Gaucher disease, and little was known in 1968 when I was first diagnosed at the age of 5. There was no treatment available back then, no experts in the field, and no support or information. I was too young at the time to realise what my parents must have been going through emotionally. Today as a parent myself, I can only imagine the horror and worry that engulfs any parent in such circumstances. This is most definitely a situation any parent would dread.
We were five children, three of us diagnosed with Gaucher disease. Two were lucky in the DNA “lottery”, born simply carriers of the gene, they would never suffer from Gaucher disease themselves. Thankfully today, families don’t have to endure what my parents did, due to great leaps and bounds that have been made over the years. To diagnose Gaucher disease, today is possible with a simple painless blood test. There are many support groups and doctors who are experts in this field, and information is easily accessible thanks to modern technology and the Internet.
I have the greatest respect and admiration for those who dedicate their careers to a specific rare disease such as Gaucher, and would like to take this opportunity of thanking them. Their life’s work has made a real and lasting effect on the community, and made a huge difference on a personal level to those like myself and my family.
Please help me by sharing this blog or my latest Huffington Post article to spread the word about “Rare Disease Awareness Day”. THANK YOU!