A girl of eight whose rare brain disorder is likely to lead to her death when she is in her teens is taking part in pioneering stem cell research in a bid to save others with same condition.
Lily Harriss’s skin cells will first be turned into stem cells and then into brain cells by researchers at University College London as they seek treatments or a cure.
About 100 to 200 cases of BPAN — beta-propeller protein-associated neurodegeneration — are known worldwide, although this is believed to be an underestimate.
Children often suffer delayed development, sleep problems, epilepsy and lack of speech and their symptoms can be mistaken for other conditions.
Lily, from Luton, was diagnosed when she was five. She has very limited communication skills and uses a wheelchair. She wakes four or five times a night and needs drugs to control seizures.
However, she loves swimming and her father Simon said she has recently began singing on car journeys.
“She’s laughed and giggled her way through everything, and she’s been through a lot,” he said.
“She’s a beautiful little girl who can be quite naughty sometimes. We’re giving her the best time we can while she’s here. We have a beautiful little girl and it’s just so cruel.”
Young people with BPAN develop abnormal muscle tone, symptoms of Parkinson’s disease and dementia.
Mr Harriss and his wife Samantha, who work for an airline, know that as Lily’s condition progresses she may have difficulty swallowing and require pain management.
Mr Harriss said: “Lily can point to things she wants, she uses a little sign language and she can say a few words, like mummy, daddy, hello and goodbye.
Medical research like this for children is just absolutely vital.
“We know we won’t get a cure for Lily but, as parents, we need to be bigger than that. Other children might benefit through Lily. We are so proud of her.”
The UCL study is being funded by £230,000 from children’s charity Action Medical Research and the British Paediatric Neurology Association. Lead researcher Dr Apostolos Papandreou hopes his research will lead to trials of treatments.
He said: “The parents I’ve met understandably feel devastated at the prospect of their children having a progressive disorder. However, they’re really keen to explore new avenues and participate in research projects.”
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