‘We'd never heard of it': a woman tells of her daughter's death of mitochondrial disease
I had another scan nearer Lily's due date and that time there was no blood flow between the placenta and the baby. I had to have an emergency caesarean. That was at 35 weeks. She was so tiny, 3lb 8oz, but they couldn't find anything wrong with her.
After four or five weeks I was allowed to bring her home. She wasn't putting on weight. One day, when she was about seven weeks old, I was out with the kids for the day, and when I took her out of the pushchair she had stopped breathing, she was grey and foaming around the mouth. We got her to a hospital and she started breathing again. She was discharged, but a friend of mine who's a paediatric nurse advised me to take her to East Surrey hospital, where she was born and they had all her notes. We were there for 10 days while they did more tests.
The doctors thought she might have a metabolic disease and blue-lighted us to the Royal Brompton to see a specialist. They agreed, but we were allowed home. We had to get a taxi back and on the way Lily stopped breathing again. I had a nurse with me who performed CPR. Lily had two cardiac arrests a couple of nights later at East Surrey and ended up at Evelina children's hospital on life support.
Lily had a lumbar puncture and some more tests. They strongly suspected she had mitochondrial disease. We were told: 'I'm really sorry, there's no treatment, there's nothing we can do, Lily's going to die.' We had a muscle biopsy to confirm the diagnosis but they didn't think the result would come back before she died.
Lily didn't die when they turned off life support. We took her home and she survived for six months. I used to sit up in bed with her on my tummy because I was so frightened of waking up and her not being here. I couldn't bear the thought of her being on her own.
We had never heard of mitochondrial disease. After Lily died, we asked for donations instead of flowers at her funeral and there was nowhere to send them. There was no active charity dedicated to mitochondrial diseases. We thought, it's never going to change unless we do something. We just did it, we set up The Lily Foundation.
We knew that in order to treat it or to find a cure, we had to be able to diagnose it properly. So we raised money for a gene-testing programme. That was a hugely successful project and it's now a routine test for mitochondrial disease.
The charity has now raised more than £11m and supports more than 1,300 families and patients across the UK. Our website is full of information and we run annual meet-ups for families, for adults and for young adults. We have closed Facebook groups that bring people together. People go on there for practical advice and support as well.
For parents to have an opportunity to have a baby free of these diseases that's genetically theirs, what they have done in Newcastle is not only an incredible piece of science to be celebrated, but an amazing step forward for families. It is such a tightly regulated, robust process from beginning to end, and that's something we should be extremely proud of. There will always be learning. It's a new technique and I hope it opens doors for more in the future. This is about giving families a choice when every other option has been ruled out.
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