Parents head to London to advocate for “right to live” of terminally ill daughter
Addy is one of around 40 children in the UK with Batten disease
A family from Swindon is travelling to Parliament today to call for their daughter’s life-prolonging treatment to be continued.
Hayley and Dave Clarke will be joining other parents from across the country whose children have been diagnosed with Batten disease – like their own daughter Addy.
Even though the disease cannot be cured, there is a treatment – but the National Institute for Health and Care Excellence (NICE) has so far not approved the drug as they say it is too expensive.
Mr. Clarke said: “When Addie was first on it, there were only 15 children in the UK. This is because children were passing away before this treatment. Now there are 40 plus children in the UK.
“So, we're hoping to go to outside Parliament and chat with our MPs and say, ‘Look we just need NICE to pay the cost for this drug’ because it's the only treatment out there for these children and they deserve to have the right to live as much as anybody else”.
Batten disease, or CLN2, is a rare degenerative disease.
It is caused by abnormal genes which are unable to produce certain proteins.
Without those proteins, a waste product called ceroid lipofuscin cannot be flushed from the body.
When the waste product builds up in a brain cell, it can cause seizures as well as the ability to walk, talk and see.
The treatment, called Brineura, slows this process down.
“This is an ultra-rare disease and children who go on Brineura are largely living beyond what the natural disease says. Children are living much much longer and they're keeping these skills much much much longer”, explained Mr. Clarke.
Addy is one of the first children who receive the treatment.
It was first approved for use in the UK in 2019 and after parents won a judicial review, the NHS agreed to a five-year Managed Access Agreement (MAA) which saw them fund the drug while collecting long-term data.
Although the MAA ran out in November 2024, it was extended for an additional six months to allow the NHS and Biomarin, the pharmaceutical company that produces the drug, to reach an agreement.
The average life expectancy of children with Batten disease who do not undergo treatment is between eight and 12 years old – and families are left with the question of whether their children will still be receiving treatment come June.
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 6-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.
“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 6-month extension and the agreement to hold a third committee meeting on Thursday 3 April at which additional information provided by BioMarin will be the focus of the committee's discussion and consideration”.
Mr. Clarke stressed that even though Addy has been living with Batten disease for over half her life, thanks to the treatment she still has an “amazing quality of life”.
“Addy was four at the time and I remember thinking we could be halfway through her life”, he said.
“She started treatment at Great Ormond Street and now we're four years down the line – almost 5 years – and amazingly my daughter can still see. She's wheelchair-bound, yes. She can't walk anymore, she can't use the bathroom, she's had to have surgery to be able to feed her through a tube, but she can see.
“She's got amazing quality of life – we actually took her indoor sky diving the other day. She loves swimming, she loves bowling, she can still talk. She's got an amazing story to tell if she could string more than a few words together and she can communicate well beyond words. She absolutely loves the Lion King.
“And if you met her, she would light up your life”.
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