Finding treatments & cures for childhood illnesses

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.