Lily is a happy-go-lucky little girl who loves swimming and, to her parents’ delight, has recently started to sing. “She sings in the car, it’s her own special song and it’s amazing,” says her dad Simon. Such innocent, happy moments mean the world to Simon and his wife Samantha because Lily has a devastating, life-shortening condition known as beta-propeller protein-associated neurodegeneration or BPAN.
“When BPAN was first mentioned, Lily was only five years old. We were just totally devastated,” Simon recalls. “Lily has severe global developmental delay. She 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.”
She uses a wheelchair now, wakes four or five times a night, and her dribbling and seizures have to be controlled with drugs.
Lily’s life also revolves around food. "We have to lock the cupboards and the fridge. And Lily likes to carry a spoon around in her left hand at all times – the shinier the better!” Simon says.
Tragically, Simon and Samantha know that in the coming years Lily’s health will continue to deteriorate as teenagers and young people with BPAN develop abnormal muscle tone, along with symptoms of Parkinson’s disease and dementia.
Lily’s life is likely to be short, but her parents are determined to ensure her life is as rich and as full as possible. “We’re giving her the best time we can while she’s here,” Simon says.
Lily has taken part in a study funded by Action to help children with BPAN that hopes to one day find a cure for this devastating disease.
“Medical research like this for children is just absolutely vital – you have to start somewhere. We know we won’t get a cure for Lily, but other children might benefit. Lily has so much to give, much more than she will ever realise. We are so proud her.” - Simon
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