Lily Harriss (pictured above) 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.

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.

“Medical research is absolutely vital – you have to start somewhere. We know we won’t get a cure for Lily but as parents we need to be bigger than that and look to the long term.” Lily’s dad, Simon.

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 due to sleep problems, and her dribbling and seizures have to be controlled by drugs.

Children’s charity Action Medical Research wants to work towards a cure. Along with the British Paediatric Neurology Association they have promised to fund 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.  

 

Pictured: Dr Papandreou is working in the lab at University College London and at UCL Great Ormond Street Hospital Institute of Child Health. The findings could go on to benefit millions of people.


 

Lead researcher Dr Apostolos Papandreou (pictured above), who was awarded a prestigious Research Training Fellowship by Action Medical Research, explains: “As a paediatric neurology registrar, I specialise in caring for children with conditions that affect the nervous system, including BPAN. Unfortunately, it is a progressive, life-limiting disorder and there are currently no drugs that can improve or cure BPAN.”

“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.”

Lily is taking part in Dr Papandreou’s study and Simon and Samantha are keen advocates of the importance of research.

“Medical research is absolutely vital – you have to start somewhere. We know we won’t get a cure for Lily but as parents we need to be bigger than that and look to the long term,” says Simon.

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.

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.

 

Learn more

Action Medical Research is now launching an appeal to help fund this vital research. They urgently need to raise £30,000 towards the £140,000 still needed for this vital piece of research. You can support this appeal at action.org.uk/fund.