Derbyshire family in 'agony' as NHS decides on future access to vital treatment for 'cruel disease'
A Derbyshire family are facing an agonising wait to find out whether treatment for a rare genetic disease will still be available on the NHS beyond this spring – even though their children are living proof of the difference it can make.
Spinkhill parents Emily and James Weston are anxiously hoping for a resolution between NHS England, the National Institute for Health and Care Excellence (NICE) and California company BioMarin to secure an ongoing supply of the drug Brineura, with the existing agreement set to expire in May.
Brineura is the only treatment for CLN2 disease, a neurodegenerative condition which develops in early childhood, and is currently provided to around 40 children in the UK, including the Westons’ three-year-old son Max.
The family are painfully aware of the drug’s potential to slow the disease down, as their daughter Holly, six, was diagnosed too late to experience the same benefit.
Civil servant Emily, 33, said: “Holly developed completely normally up until around her third birthday, but things started slowing down and we noticed she wasn’t progressing in line with her peers. Then in May 2022 she had a seizure out of the blue.
“The seizures became more frequent and she was diagnosed with epilepsy quite quickly. Medication seemed to stabilise things but then she started to become unsteady on her feet.
“It’s a really cruel disease. One of the reasons it takes so long to diagnose is that things go downhill, then stabilise, so you think you’re just getting on top of it, then it goes again.”
As Holly began exhibiting more symptoms beyond epilepsy, doctors in Chesterfield and Sheffield ordered tests for more rare explanations, eventually reaching the diagnosis of CLN2, one of 13 disorders collectively known as Batten disease.
Affected children do not produce enough of the enzyme TPP1, which normally removes waste materials from cells in the central nervous system. The build-up of waste eventually causes the cells to die, leading to the loss of cognitive, motor and visual functions.
Around 150 children and young adults in the UK are thought to be living with Batten’s at present, but only those with CLN2 have any option for treatment.
Emily said: “When the neurologist first mentioned this as a possibility, I googled it and thought it sounded dreadful but I was sure Holly didn’t have it. At the time she was walking and talking like any other little girl.
“The test results came back on a day we happened to be at the hospital for one of her routine epilepsy reviews. As soon as they said it was Batten disease, I knew what it meant and that it was horrendous.
“There’s no way to describe that moment. Your world just stops when you get information like that. It’s very hard to process.”
To make matters worse, Max was then tested for the same condition and diagnosed within a week.
Emily said: “Our lives and our family dynamics have changed dramatically in the past two years. Holly has quite profound and complex needs, she’s lost her mobility, she can’t eat and she’s blind.
“She goes to the specialist Stubbin Wood School full-time and they’re fantastic with her, then at home she relies on us for everything. We’re lucky to have an incredible network of family, friends and health professionals around us.
“It’s a totally different story with Max, because he started treatment at such a young age when he was pre-symptomatic. He turns four this month and he’s still showing no symptoms and doing really well. It’s incredibly difficult for all children living with Batten’s but you see better results the earlier you start treatment.”
Brineura mimics the missing enzyme, helping to clear waste from the cells and slowing the build-up.
Patients require initial surgery to have a port inserted in their skull, then the drug is infused into their brain fluid every two weeks.
Emily said: “Holly began treatment immediately but it takes 6-12 months for the drug to start working and in that time the disease keeps progressing.
“Unfortunately she deteriorated so rapidly we weren’t seeing enough benefits for her, so we made the difficult the decision to end the treatment in late 2023. She hated going to Manchester for the appointments and we wanted to just enjoy the time she had left outside of a hospital.
“With Max, the treatment is just part of his life. The staff at Manchester Children’s Hospital have become like a second family, he absolutely loves going. It’s big shift for our family to travel every two weeks, but it’s actually always a nice day.”
Adding a happier complication to the picture, seven weeks ago the Westons welcomed baby Rory thanks to IVF and genetic screening to ensure he would not inherit the same disease.
The outlook for Max is much less certain. Brineura was first introduced on the NHS in 2019 on a ‘managed access agreement’ – meaning its cost effectiveness would be assessed over five years to determine whether it should be offered permanently.
To the families involved the treatment is priceless but, at a reported cost of £500,000 per child per year, decision-makers must be satisfied Brineura meets certain criteria to receive a share of NHS resources.
As the end of the managed access agreement neared in autumn 2024, NHS bosses announced a six-month extension for new and existing patients until May 2025 – and since then there has been no news.
Commercial sensitivity means negotiations between the NHS, NICE and pharmaceutical companies are kept largely confidential, leaving patients, families and doctors in the dark as to how talks are progressing or where hold-ups might arise.
Emily said: “We were always aware of the five-year agreement and we’ve been able to dial into NICE meetings to observe some of the discussions, so we knew this was coming.
“The deal was that we had to take part in routine tests so they could gather data. When they announced the six-month extension they said there wasn’t enough data available to immediately approve it, so they would have to negotiate on the cost.”
She added: “It’s agonising, it’s our son’s life at stake. We’ve seen what happens to children who have Batten disease. Holly lost her ability to walk, talk and see within six months.
“If the treatment ends, we know what the future looks like for Max. It’s a terrifying prospect that we’ll have to watch him regress, knowing there is a treatment that works.
“And this isn’t just about Max. There will be children out there with this condition who haven’t been diagnosed yet, and this treatment needs to be available for them to.”
There are so few children living with CLN2 that their parents form a close-knit support network across the UK, including two more families nearby in South Yorkshire.
They are linked by the Batten Disease Family Association (BDFA), a charity which provides specialist support to more than 100 families across the UK, funds medical research efforts and clinical education to improve early diagnosis, and it has also been advocating for patients in the Brineura deliberations.
Chief executive Liz Brownnutt said: “BDFA was set up by parents for parents to ensure no family walks this path alone, and that they have all they need to live this life they have to live.
“My niece and nephew were both diagnosed with CLN2 before this treatment was available. It followed the natural progression and they sadly passed away aged six and nine. But now we’re already seeing children live to 14 or 15, they’ve retained their motor skills, still running around and talking. It’s quite remarkable.”
Alongside its representations to the NHS and NICE, the BDFA is seeking to build broader public and political support behind investment in Brineura.
The charity will be hosting an event in Parliament on Wednesday, March 12, with Lord Ian Botham.
James will be there too, talking about the family’s experience with Holly and Max and helping to make the case to patients’ local MPs and national health officials.
Liz said: “These families are in agony now. I don’t know what other word to use. It’s intolerable suffering when they’re already dealing with so much. It just seems cruel.
“We were puzzled when they announced the extension. We’re bound by some confidentialities, so the only thing to say is that we’re incredibly frustrated.
“It’s been through the full re-evaluation process, they’ve had the necessary committee meetings and instead of making a decision they just announced an extension. They’re meant to issue guidance at the end of the process but they didn’t, so we couldn’t respond.
“We’re calling on NICE and and NHS England to engage in a process with the manufacturer. We’re told they are in that process but we’re not part of the conversation, so we’re urging them to ensure this isn’t delayed beyond the end of May. These families need a decision and they need it fast.”
She added: “Rare disease medicines are expensive and there are so few patients that the data is always going to be very limited, but we have to remember the NHS has significant buying power and the ability to negotiate lower prices.
“And at the end of the day, we’re talking about children and their quality of life – you can’t put a price tag on that.
“Whatever happens, even if we get a ‘no’, we won’t stop fighting until Brineura is secured. A world without it is unthinkable for our families. What they’re going through is utterly heart-breaking.
“Anyone who wants to support us can look our social media, share our posts and tell their own MP about the situation. We’re a very small community but we need our voice to be heard. These children’s lives matter.”
In response to questions from the Derbyshire Times, a NICE spokesperson said: “Since 2019, Brineura has been provided for eligible NHS patients under a Managed Access Agreement. With the support of NICE, NHS England and BioMarin have agreed a six-month extension of the current agreement. This will now run until 27 May 2025.
“All parties will now use the extension period to try to reach an agreement that secures permanent access for current patients and allows new patients to start treatment. During this period, newly diagnosed patients can be assessed for treatment eligibility and start treatment under the terms of the current agreement.”
They added: “There are currently no arrangements to enable access to Brineura as part of standard NHS care following the expiry of the agreement. As part of the ongoing NICE evaluation the next steps will aim to enable commercial discussions between NHS England and BioMarin to progress further and will not affect continuation of treatment under the now extended agreement.
“Discussions between NICE, NHS England and BioMarin so far have been constructive, leading to the agreement of the six-month extension, and are continuing.”
A representative for NHS England echoed that position.
A spokesperson for BioMarin, said: “Brineura plays an important role as the only approved treatment for children with neuronal ceroid lipofuscinosis type 2 (CLN2).
“Our discussions with NICE and NHS England are ongoing, and we remain committed to enabling continued access to Brineura for children in England.”
Through all the ups and downs in their family, Emily and James have raised around £50,000 for charities supporting families like theirs and that work will continue whatever happens next.
Emily said: “It’s been important to focus our minds on something else while going through these traumatic times. We started out raising money for BDFA and as Holly’s got more poorly and we’ve used other organisations, we’ve started raising money for Stubbin Wood School and Bluebell Wood Children’s Hospice.
“BDFA has been an incredible source of support and having the rest of the Batten’s community working together has helped get me through whenever things felt uncertain like they are now.” She added: “It’s so important to have that support, and to have an organisation fighting to secure access to treatment for our family and all the future children who might be diagnosed.”
To learn more about the charity, go to bdfa-uk.org.uk. Readers can support its work with donations via the Westons’ fundraising page at gofundme.com/f/holly-and-max-battle-batten-disease.