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.”
Living for today
Lily takes medicines for dribbling and to control her seizures. She suffers from sleep problems and uses a wheelchair. Tragically, this rare condition is progressive: teenagers and young people with BPAN develop abnormal muscle tone, along with symptoms of Parkinson’s disease and dementia.
Simon and Samantha are determined to ensure Lily’s life is as rich and as full as possible. “We’re giving her the best time we can while she’s here,” Simon says.
Vital medical research
“Medical research like this for children is just absolutely vital” explains Simon. “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 of her.”
Lily and living with BPAN
Lily's parents, Simon and Samantha, kindly shared their experiences to create this moving film that shows the devastating impact of living with BPAN.