Eilish

EilishEilish, 16th November 2013 – 9th September 2014,

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. By the time she was 12 weeks old, we got a prescription for stronger medication from the GP, again, this did little to help her.

She continued to develop but she struggled to put on weight because she was vomiting on average 4 to 5 times a day. She was stiff and her fists were always clenched. Her head control was good though and she had a lovely smile, she’d even started to laugh.

Getting a diagnosis

After about four months, when Eilish still wasn’t getting better, our GP referred us to a paediatrician and we were given an appointment on the 17th March 2014. We stayed overnight but she was a puzzle because she was feeding ok and not looking malnourished. We had another appointment 2 weeks later for a review. During these 2 weeks Eilish worsened. I couldn’t get her to feed and when I did, she vomited. We went back to see the paediatrician on the 2nd April and she was admitted. They inserted a feeding tube and treated her for severe reflux. 5 days later the consultant saw her and she was having an especially bad day. He decided to order an MRI scan and another scan to monitor her brainwaves. These took place on Wednesday 9th April and by Friday the 11th we were told there were some abnormalities on her MRI scan but the specialists couldn’t agree on what they were seeing. On Monday 14th April 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. On Thursday 17th April – 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.

Living with Krabbe Disease

Eilish 2Eilish needed a feeding tube and high doses of ibuprofen to help with nerve and muscle pain. She had to have a range of medications which helped settle her and she was in less pain. She also had a gastrostomy and fundoplacation which stopped her vomiting and we felt she had a better quality of life then.

The disease put a lot of stress on us. We were fortunate we had family around to help care for our two boys. My mum moved in so that the boys were settled in their own house although they still missed us and their sister. My husband’s work gave him indefinite leave from April until the end of September which took a lot of pressure off us.

In incredibly rare diseases you feel so alone at first then sadly discover many have trodden the path before you. This doesn’t make it easier but it does provide you with some support. Whilst finding out more won’t bring Eilish back if the research that Sparks is funding helps even one family then it is absolutely the best value.’