Running Belfast city Marathon on behalf of Climb

Sarah Elizabeth is raising money for Metabolic Support UK
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Belfast City Marathon 2016 · 2 May 2016 ·

Metabolic Support UK - formerly known as Climb - was founded in 1981 and is the leading patient organisation for those affected by Inherited Metabolic Disorders, supporting thousands of patients worldwide every year. For more information, please visit www.metabolicsupportuk.org

Story

Thanks for taking the time to visit my JustGiving page.

Hi. My Name is Sarah and I've set this up this JustGiving page  on behalf of Climb charity. Climb is a charity that has been set up to help raise awareness of metabolic disorders and to help funding into medical research for children battling with metabolic Diseases.

Metabolic disorders are when a defective gene causes an enzyme deficiency, which means that abnormal chemical reactions in the body alter the normal metabolic process. Many of the Inherited Metabolic Diseases can be fatal, some can be controlled by diet, and for some there are treatments to replace the deficient enzyme.

Of 800,000 babies, it is estimated that 600 are born in the UK every year with an inherited metabolic disease.

Our son was diagnosed with a metabolic disorder in September 2014. Laurence was diagnosed at just 2 days old with a rare and potentially fatal metabolic disorder if not treated promptly called Citrullinaemia, (a urea cycle disorder) Laurence was taken to ICU and our world came crashing down. Citrullinaemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood, which in turn poison the brain and other organs.

On day 3 of life Laurence’s condition was getting worse. Doctors explained that he needed hemofiltration of the blood in order to survive as the ammonia levels were steadily increasing, even during treatment. We were told that the air ambulance was needed to fly Laurence to Great Ormond Street in London for treatment urgently.


During our time in London doctors explained Laurence’s condition to us and how to try to and manage his ammonia levels using a strict low protein diet and medication. They also explained the urgency of getting Laurence to hospital immediately if he showed any of the subtle sign that his ammonia was rising. Ammonia levels can rise at any time and without warning. Little things like a cold or tummy bug could put Laurence in hospital. Laurence was also on a strict low protein diet meaning that all his meals must be weighed out. Things like Meat, bread, pasta, eggs and dairy products weren’t aloud. He was prescribed protein free milk and other food supplements.

Throughout the first year of life Laurence has had over 20 hospital admissions and over 100 blood samples taken. During this time we had been in touch with other families around the world with the same condition as Laurence’s. We watched children die because of simple things such as kidney infections or tummy bugs. After seeing other families lose their precious children, we couldn’t sit back and let the same happen to him. We searched Internet pages looking for treatments or some form of hope.

It wasn’t until Laurence was 6 months old that we started to consider a liver transplant, which would be curative of Citrullinaemia. Although is it was a cure it wasn’t to be taken lightly and gave its own set of risks and problems. However we felt that this was the only way we could help give our little man the best quality of life. Laurence became 'active' on the liver transplant waiting list in June 2015, however we were told we could wait over a year to be called. Both Laurence’s daddy and myself decided to be tested to see if we were a match in order to give Laurence piece of ours. Thankfully both of us were able to donate, however doctors decided it was best for me (his mummy) to donate as my liver was smaller and would be more suitable for Laurence’s size as he was only 12 months old. On the 7th of October 2015 Laurence was transplanted in Birmingham using the left segment of my liver. I am very proud to say that Laurence has made an amazing recovery and is doing fantastic. We are very grateful to all the medical staff in Great Ormond street (London), BCH (Birmingham) and our local, the royal hospital for sick children (Belfast). If it weren’t for these amazing people, our son wouldn’t be with us today.

Now four month on from Laurence transplant we (myself, laurences daddy and his supportive aunts and uncle)have decided to run Belfast city Marathon in aid of Climb. We want to help other children around the world living with these devastating metabolic disorders like our little man. Please donated and help fight against these disorders. Every penny counts!!!

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Donation summary

Total
£1,653.10
+ £216.25 Gift Aid
Online
£1,195.10
Offline
£458.00

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