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 sickly baby and at five weeks old she was diagnosed with reflux. We weren’t worried as one of her brothers had had it too – but 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. This did little to help her.
She continued to develop, but she struggled to put on weight because she was vomiting on average four to five 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 okay and not looking malnourished.
We had another appointment two weeks later for a review. During these two 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. Five 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.
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.
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 referral – we were told she had Krabbe disease.
Living with Krabbe Disease
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, but they still missed us and their sister. My husband’s work gave him indefinite leave which helped a lot with the pressure.
In incredibly rare diseases you feel very alone at first, but then sadly discover that many have trodden the path before you. This doesn’t make it easier but it does provide you with some support. Whilst research won’t bring Eilish back, if the work that Sparks does helps even one family then it is absolutely the best value.
What we’re doing to help save children like Eilish
Find out about our research project looking at rescuing brain cells in Krabbe disease:
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