Thank you for visiting and learning more about the mission we are now all on together! Me doing the running and you all doing the donating :)

I'm running the London Marathon on the 23rd April 2023 to support a truly unique and important charity. 

A close family friend (James) at the age of just 11 years old was diagnosed with Gaucher disease. This diagnosis impacted his life significantly, but with the support, guidance and community found through The Gauchers Association, life was and is that little more normal. 

What started out as a likely sports injury, turned to suspected leukaemia, and eventually a diagnosis of a rare autosomal recessive disease called Gauchers. Thankfully 15 years on, James continues to live with Gauchers.

The Gauchers Association (www.gaucher.org.uk) is a small, nation wide charity which provides support and advice to Gauchers patients and their families, advocates on their behalf and supports and promotes research in to the development of new treatments, in particular within areas of unmet needs.

Gaucher Disease is an autosomal recessive disease and the most common Lysosomal Storage Disorder, although it still only affects 1 in 100,000 of the general population. It is caused by a deficiency of a specific enzyme in the body, resulting from a genetic mutation received from both parents. This enzyme deficiency leads to an accumulation of Gaucher cells in various parts of the body, most typically the spleen, liver, and bone marrow. Frequently, an organ that contains Gaucher cells becomes enlarged and does not function properly, resulting in clinical symptoms associated with the disease.