Physical Health United Kingdom Project #6530

Finding treatments & cures for childhood illnesses

by Sparks Charity

Project Report | Mar 17, 2016
Eilish's story - research into rare diseases

By Ellie Windle | Corporate Partnerships Manager

Baby Eilish

Eilish’s mum, Kirsten, tells us about the difficulty in getting a diagnosis for Krabbe disease and the tragic loss of her daughter.

“Eilish was always a sicky baby and at 5 weeks old she was diagnosed with reflux. We weren’t worried as one of her brothers had had it too, however the medicines that worked for him seemed to have little effect on Eilish.

She continued to develop but she struggled to put on weight because she was vomiting on average 4 to 5 times a day.

Getting a diagnosis

After about four months our GP referred us to a paediatrician. I couldn’t get her to feed and when I did, she vomited. She was treated for severe reflux and also given an MRI scan. We saw a neurologist and a metabolic specialist. That evening we were told Eilish had an incurable enzyme deficiency. They weren’t sure which one but they would do further tests. A month after our first referral we were told she had Krabbe Disease.

Although there was a sense of relief that we knew what was wrong with Eilish, and we could now help stop the pain she was in, we were totally devastated and heartbroken. Nothing can prepare you for being told that your child has an incurable, rare disease.

“She had a range of medications which helped the pain. Whilst finding out more won’t bring Eilish back, if the research that Sparks is funding helps even one family then it is worth it.”

How we’re helping
Krabbe disease is a disabling condition that currently has no cure – most babies with the disease will die by two years of age. With Sparks' funding, Professor Timothy Cox and his team want to discover more about how the disease progresses – and how to stop its progress. They are testing whether they are able to block the disease process that kills brain cells and help affected children as a result

Without supporters like you, Sparks wouldn’t be able to fund research into Krabbe disease.

Thank you.

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Dec 9, 2015
Living with Childhood Arthritis - Joe's Story

By Ellie Windle | Corporate Partnerships Manager

Joe playing football

Thank you so much for your support of Sparks’ pioneering children’s medical research. Your amazing generosity helps fund research to find better treatments and cures for childhood illnesses and to improve the quality of life of children with a range of medical conditions – from the most common illnesses to rare diseases.

Living with Childhood Arthritis – Joe’s Story

Joe was diagnosed with Juvenile Idiopathic Arthritis (childhood arthritis) when he was six years old which left him unable to walk at times. Thanks to research and the development of a new medicine, he’s now a fit 14 year old who stars for his local football team.

“When I was six I had really painful joints which left me unable to walk. I remember being diagnosed with juvenile arthritis, it was really horrible. My Mum and Dad were shocked as arthritis is something that you think only old people get.

“I was in hospital for a few weeks, isolated away from my friends. I was put on a number of different drugs and steroids. One of them used to make me sick every time I took it.

At hospital I was told about a new medicine. It was a bit scary at first as it was brand new, but the alternative was daily injections so I was eager to try it!

“The difference the new medicine has made to my life is amazing. Friends that I’ve made over the last few years don’t even know I’ve got arthritis. I run around every weekend playing for my local football team and sometimes get to Arsenal games with my Dad.

“One of the best things about the new drug is it means I miss less school and seeing my friends. I want to work for the Police when I’m older. Research and this new drug has opened up these options for me. The work that Sparks funds is so important. It’s helping children like me all over the country and I’m so grateful.”

How Sparks is helping

Arthritis is a condition where the joints become inflamed, painful and stiff. There are estimated to be around 12,000 children living with it in the UK and if not well controlled, can lead to severe pain and disability.

Sparks’ research led by Professor Lucy Wedderburn’s team at the UCL Institute of Child Health are aiming to develop a simple test that will predict whether a child will respond well to medication for arthritis or not as well as when they can stop taking it. This will ensure they get access to the most effective treatment as quickly as possible.

Thank you so much for helping to change the lives of children like Joe.

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Sep 3, 2015
Nicola's Story - Premature Birth

By Ellie Windle | Corporate Partnerships Manager

Sebastian at home with Mum and Dad

Thank you for supporting Sparks and helping us to fund pioneering children’s medical research. Your generosity helps fund research into conditions that affect the health of babies, children and expectant women – like Nicola, who is one of the thousands of women affected by premature labour.

Premature birth – Nicola’s Story

Premature birth – before 32 weeks - is a major cause of death in new born babies and can lead to life long disability. The World Health Organisation has identified premature birth as the leading cause of death for children under the age of five.

Luckily Nicola was able to take home her son Sebastian, born at barely over 24 weeks, but it wasn’t an easy journey.

“I was in established pre-term labour. I just kept thinking that it couldn’t be true; it was ridiculous because I hadn’t even reached the 5 month mark. We didn’t know if, by the end of the day, we were going to be a family, if our child was going to survive.

Sebastian was in intensive care for 8 weeks. During that time, amongst other problems, he had 11 blood transfusions, a grade 3 bleed on the brain, he got E-coli, his lungs collapsed and he had a skin infection. He spent another 5 weeks in hospital.

“Sebastian is home now and is a cheeky, boisterous 19 month old,” Nicola says. “He’s on oxygen the whole time and has to go back to hospital for tests but we are moving forward. We have some dear friends who had a little girl who was born a week after Sebastian and she never came home, she passed away at 5 months. We feel incredibly lucky but at the same time you feel guilty that yours is a success story.”

How Sparks is helping

Finding a way to accurately predict premature birth could help prevent some of the 50,000 babies currently born prematurely each year in the UK.

With Sparks funding, Professor Phil Bennett at Imperial College London aims to pioneer a technique to predict the likelihood of premature labour through simple blood and urine tests. His team are researching the metabolic changes in blood and urine that can be detected as early as 13 weeks in pregnancy. This could help to accurately identify women who are more likely to give birth prematurely and provide targeted treatment for those at risk.

Thank you so much for helping to make possible research into premature birth which will change the lives of countless families like Nicola’s.

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