Type 1

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Diagnosed at the age of 10 after a routine blood test. Tested because my brother was diagnosed after a period of not being able to walk and being hospitalised (age 7).  

Both initially diagnosed with Leukaemia and my parents were told we only had 10 years to live.

Later found out from a less morbid doctor that it was Type 1 Gaucher.

Both found to have enlarged liver and spleens and both had portacaths fitted to receive fortnightly Cerezyme treatment. 

 

I have never really presented with any noticeable symptoms and am a married mum of two and primary school teacher.  My brother often complains of bone pain but is otherwise well and has a full time hands on job.

I'd be interested in hearing from anyone else in the UK with this condition to share stories but understand I am lucky for the condition not to affect my daily life.