Alistair, Nathan and Kate are running the London Marathon -Please Sponsor Us!

My two brothers and I are running the London Marathon for the Gaucher’s Association.

This is our chosen charity because Alistair’s son, Samuel, was diagnosed with Type 1 Gaucher’s Disease when he was 3 years old. Sam is now 8 and has been extremely brave throughout his unpleasant but essential treatment for the condition.

Gaucher's Disease is a rare genetic disorder, which results from reduced activity of a key enzyme responsible for the metabolism of a subclass of fats. Symptoms include anaemia, intense fatigue, easy bruising, an enlarged spleen and liver, as well as bone pain, degeneration and fractures. Bone disease is amongst the most debilitating and disabling components of Gaucher’s Disease. Without treatment, Sam could expect to need a wheelchair by his early teens.

Treatment for type 1 Gaucher’s involves Enzyme Replacement Therapy, whereby a patient is infused with enzymes - an unpleasant procedure, because no-one likes needles - especially a child. This takes around 2 hours per treatment and is required once a fortnight, throughout an individual’s lifetime. As such, the enzyme is an effective therapy, rather than a cure.

The Gaucher’s Association provides information about the disorder and keeps families and advisers up-to-date with the latest developments. It encourages the availability of treatment, keeps families in touch for support and actively encourages medical research.

Thanks to his treatment, for which his family is extremely grateful, Sam is doing very well, and is looking forward to cheering us on along with his mum, Katie, and little brother, Oscar, who, thankfully, has not inherited the condition.

Thanks for taking the time to read this. We hope our efforts will help to raise awareness of Gaucher's Disease and we will be very grateful for any amount you can donate towards our target.

Best wishes

Kate


Donating through Justgiving is quick, easy and totally secure. It’s also the most efficient way to sponsor us: The Gauchers Association Limited gets your money faster and, if you’re a UK taxpayer, Justgiving makes sure 25% in Gift Aid, plus a 3% supplement, are added to your donation.