- Max Weston, one, from Chesterfield, has a rare genetic condition
- Batten disease causes the brain to shut down between the ages of five and ten
A British baby is one of the youngest in the world to receive a breakthrough drug for a terminal brain disease, for which there was previously no treatment.
Max Weston, one, from Chesterfield, has Batten’s disease – a group of rare genetic conditions that cause the brain to shut down gradually over five to ten years. The disease affects around one in 25,000 babies in Europe. Eventually, sufferers lose the ability to speak, move, see, and swallow, and typically don’t live for 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 called CLN2, has been hailed by experts for its ability to prolong the lives of sufferers.
Fewer than 40 UK children have received the new infusion, with most older than Max. Although too few have been treated to collect conclusive data, “anecdotal evidence suggests that children who receive the treatment live longer,” says Dr Dipak Ram, consultant pediatric neurologist at Royal Manchester Children’s Hospital.
The drug is given by infusion every fortnight directly into the fluid surrounding the brain, through a tube at the top of the skull.
It works by replacing a key protein called tripeptidyl-peptidase 1 that is missing in CLN2 patients. Normally, this protein breaks down cellular residues that accumulate in brain cells, but patients with Batten disease do not have this protection and the cells stop functioning.
The drug is unable to reverse damage that has already occurred, but can protect other brain cells. This means that it is most effective in very young children. But spotting the disease early is a challenge, says Amanda Mortensen, executive director of the Batten Disease Family Association.
“The disease is so rare that doctors often don’t recognize it – most have never seen it before,” she says. “So children may spend years being treated for epilepsy or other conditions before being diagnosed.”
Max’s early diagnosis came as a result of tragic circumstances. Her four-year-old sister, 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 condition, so siblings are advised to be screened via a blood test. Holly was a healthy baby, but was slow to walk and to retain the information she learned in nursery. Last June, around the time nursery staff were reporting her learning disabilities, she suffered a sudden seizure.
“We were having a great holiday in Menorca,” says the children’s mother, Emily Weston, 31. “Suddenly Holly started convulsing 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 in the UK, who initially treated Holly for epilepsy. But as her mobility began to deteriorate, causing frequent falls, the specialist ordered a blood test to screen for Batten disease, and Holly was found to have the condition. Six days later, she underwent surgery to install an orifice in her skull, through which the new drug could be administered.
That same day, doctors diagnosed Max with the same form of Batten disease.
“We desperately hoped he would get away with it,” Emily says. “When we found out he didn’t, our world was turned upside down. We mourn the life we thought we had, but we try to stay positive and strong for the kids.
Holly had four transfusions, and Max two, at the Royal Manchester Children’s Hospital, although they are unlikely to see any changes for at least six months.
“Treatment can slow the development of symptoms and potentially even prevent some from developing if children get it early enough,” says Dr. Ram. “A patient recently turned 17 – something we had never seen before. Although it is not a cure, it is life changing.
Ms Mortensen adds: “One child was a few weeks older than Max when he started treatment and is now seven years old, very mobile and progressing in school – a very different experience to a child of seven years 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 are testing for more genetic defects, 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 should be on educating pediatricians about the disease. “We need to get the message out to everyone about early diagnosis,” he adds.
For the Westons, Emily says “bringing as much joy as possible to the children” is the priority. “We try to take each day as it comes,” she says. “They are happy children and that is the most important thing.”