Story about Gaucher Disease .

my gaucher story

May 23, 2017


I was diagnosed when I was 21 going from hospital to hospital.At the age of 10 I had a big pain on my knee spend a month in hospital and was diagnosed with bone fracture.After this I was monitored for years without a diagnosis for my disease.After my sister was diagnosed with a large spleen I was also diagnosed with gaucher disease.There was no therapy no hope .The hope came in 1996 when enzyme replacement changed my life .Now I have a good quality o f life and I AM very active with my association and I am helping other patients to find the correct infrastracture to help the best health care

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