Lily is living for today
Children's Health Lily was diagnosed with the rare and tragically, fatal disease, BPAN (beta-propeller protein-associated neurodegeneration) when she was just five.
Lily is a happy go lucky eight-year-old but behind her smiles, her parents, Simon and Samantha are aware that the future will involve almost unimaginable heartbreak. Lily was diagnosed with the rare and tragically fatal disease, BPAN (beta-propeller protein-associated neurodegeneration) when she was just five.
Children experience a period of developmental delay and, often, epilepsy in early childhood. Sadly, they deteriorate significantly over time, developing abnormal muscle tone, features resembling Parkinson’s disease and symptoms of dementia.
"There are no drugs that can improve or cure BPAN."
Little is known about the disease’s underlying cause and there are no drugs that can improve or cure BPAN. Current medical approaches focus only on symptom alleviation.
Lily uses a wheelchair now, wakes four or five times a night due to sleep problems, and her dribbling and seizures have to be controlled by drugs.
The work of charities on BPAN
Children’s charity Action Medical Research wants to work towards a cure. Along with the British Paediatric Neurology Association they are funding a potentially groundbreaking research project that is investigating ways in which BPAN brain cells malfunction and looking for drugs that help correct the cells’ behaviour.
"Parents are keen to explore new avenues and participate in research projects."
Lily is taking part in the research, led by Dr Apostolos Papandreou who was awarded a prestigious Research Training Fellowship by Action Medical Research. Dr Apostolos explains: “I can only begin to imagine what families feel when faced with such a diagnosis. The parents I’ve met understandably feel devastated at the prospect of their children having a progressive disorder; however, they’re also really keen to explore new avenues and participate in research projects, hoping to thus find answers for their loved ones and for others, which I find truly inspiring.”
Research and trials
Lily’s mum and dad are keen advocates of the importance of research as Simon explains: “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.”
This research will investigate how genetic changes associated with BPAN alter the way brain cells work. It will also look to identify measurable indicators of the presence and severity of the disease.
"We know we won’t get a cure for Lily, but other children might benefit."
These markers will be important for the next phase of the project, as they could possibly represent a quantifiable indication of the effectiveness of potential drug treatments.
Dr Papandreou hopes this study may help lead to a cure one day. He says “Drugs that show the most promise could then be tested further and put forward for future clinical trials, with the ultimate aim of developing treatments that improve the lives of both children with BPAN and their families.”
This work could have far-reaching implications. BPAN is not the only neurodegenerative disease whose workings are poorly understood. Dr Papandreou’s findings could go on to benefit millions of people, by shedding light on closely related conditions such as Alzheimer’s and Parkinson’s.
Action Medical Research has been funding medical breakthroughs for 65 years and has helped to beat polio in the UK, fight meningitis, prevent stillbirths and develop ultrasound scanning in pregnancy. Today we fund a broad range of cutting-edge medical research most likely to deliver real benefit in pregnancy and to babies, children and young people. Find out more www.action.org.uk/fund