A British baby is among the youngest in the world to receive a revolutionary drug for a terminal brain disease, for which there was previously no treatment.
One-year-old Max Weston, from Chesterfield, suffers from Batten disease – a group of rare, genetic conditions that cause the brain to gradually shut down over five to ten years. The disease affects about one in 25,000 babies in Europe. Eventually, sufferers lose the ability to speak, move, see and swallow, and usually live for only five or six years after symptoms begin.
But a drug called cerliponase alfa, which was approved in 2019 to treat a strain of Batten disease named CLN2, has been hailed by specialists for its capability to extend the life of sufferers.
Fewer than 40 UK children have received the new infusion, with most being older than Max. While too few have been treated to collect conclusive data, ‘anecdotal evidence suggests that children who receive the treatment are living longer’, says Dr Dipak Ram, consultant paediatric neurologist at Royal Manchester Children’s Hospital.
The drug is given as a fortnightly transfusion directly into the fluid surrounding the brain, via a tube in the top of the skull.
Baby Max Weston from Chesterfield, pictured with his older sister Holly, was diagnosed with Batten disease after his sibling suffered a fit and received her own diagnosis
Max and Holly, pictured with their parents, are both receiving the revolutionary treatment at Manchester Children’s Hospital
It works by replacing a key protein called tripeptidyl-peptidase 1 that’s missing in CLN2 patients. Normally, this protein breaks down waste cellular residue that builds up in brain cells, but Batten disease patients don’t get this protection and the cells stop functioning.
The drug is unable to reverse damage that has already occurred, but can protect further brain cells. This means it is most effective in very young children. But spotting the disease early is a challenge, says Amanda Mortensen, chief executive of the Batten Disease Family Association.
‘The disease is so rare that doctors often don’t recognise it – most haven’t seen it before,’ she says. ‘So children may spend years being treated for epilepsy or other conditions before they are diagnosed.’
Max’s early diagnosis came as a result of tragic circumstances. His sister, four-year-old Holly, also has Batten disease – which was spotted in December.
The condition occurs when babies inherit two copies – one from each parent – of a specific, faulty gene. Babies with this genetic combination have a one in four chance of developing the disorder, so it is advised that siblings are screened via a blood test. Holly was a healthy baby, but was slow to walk and retain information she had been taught at nursery. Last June, at about the time that nursery staff flagged her learning troubles, she suffered a sudden seizure.
‘We were having a lovely holiday in Minorca,’ says the children’s mum, Emily Weston, 31. ‘Suddenly, Holly started to convulse and her lips turned blue. I thought she was dying and ran screaming for help.’
After spending a night in hospital on the island, they were referred to a neurologist back in the UK, who initially treated Holly for epilepsy. But as her mobility began to deteriorate, causing frequent falls, the specialist requested a blood test to screen for Batten disease, and Holly was revealed to suffer from the condition. Six days later, she underwent surgery to fit a port in her skull, through which the new drug could be delivered.
Holly, right was diagnosed after falling ill while on holiday to Spain. When she returned to the UK a specialist sought further tests after treatment for suspected epilepsy failed to work. A blood test confirmed he had Batten disease, which led to Max’s diagnosis
On the same day, doctors diagnosed Max with the same form of Batten disease.
‘We desperately hoped he would escape it,’ says Emily. ‘When we found out he hadn’t, our world was turned upside down. We grieve the life we thought we were going to have but we try to stay positive and strong for the children.’
Holly has had four transfusions, and Max two, at the Royal Manchester Children’s Hospital, though they are unlikely to see changes for at least six months.
‘The treatment can slow the development of the symptoms and potentially even stop some developing if children get it early enough,’ says Dr Ram. ‘One patient has recently made it to the age of 17 – which we’ve never seen before. While it is not a cure, it’s life-changing.’
Ms Mortensen adds: ‘One child was a few weeks older than Max when he started treatment and now he is seven, very mobile, and making progress at school – a vastly different experience to a seven-year-old without treatment.’
Campaigners are now calling for Batten disease to be added to the newborn heel prick blood test, which screens for nine conditions in the UK. Many European countries test for more genetic faults, with some testing for up to 20 conditions. But some experts say more research is needed to develop an accurate heel prick test. In the meantime, Dr Ram says the focus ought to be on generating greater awareness of the condition among paediatricians. ‘We need to get the message out to everyone about early diagnosis,’ he adds.
For the Westons, Emily says ‘bringing as much joy to the children as possible’ is the priority. ‘We try to take every day as it comes,’ she says. ‘They are happy children and that is the most important thing.’
