Hope for terminally-ill 10-year-old Leyland girl as NHS reverses drug decision

Matilda with mum Melanie
Matilda with mum Melanie

The mother of a terminally-ill 10-year-old girl has spoken of her delight after the NHS has agreed to pay for life-lengthening treatment.

Matilda Moffatt from Leyland has Batten Disease, a rare genetic disorder which robs sufferers of their sight, mobility, speech, and often leads to death by the age of 12.

Matlida and mum Melanie

Matlida and mum Melanie

Her trial with an American pharmaceutical company where Cerliponase Alfa - an enzyme replacement - is injected into her brain, comes to an end next month, and the NHS had been refusing to continue the treatment.

NICE, a government body which decides which drugs and treatments are available on the NHS in England, said a lack of long-term effectiveness meant the treatment was not “value for money”.

Mum Melanie said Matilda has been "given a death sentence", but today, it has been announced that a deal has been struck with manufacturers Biomarin, and the NHS will now be able rapidly to offer this treatment to Batten disease sufferers not currently receiving treatment, by Christmas at the latest.

Melanie said: "I'm absolutely lost for words, speechless.

"None of us who have been campaigning for this can quite believe it. We have put the pressure on and it's paid off.

"All the stress has gone from my shoulders."

Speaking earlier this year, Melanie said: “It ( Cerliponase Alfa) has given Matilda a quality of life, it has really slowed the progress down. Children with this condition normally have a lot of seizures, but her last big one was in February 2014.

“I truly believe that if she wasn’t on this medication, she wouldn’t be here."

Professor Stephen Powis, NHS national medical director, said: “This is important news for children and their families suffering from this devastating disease who can now have access to a life-changing treatment, having endured a long wait for the company to make a fair offer.

“This latest deal coming on the back of a number of other recent successful negotiations demonstrates that there is no reason for other companies not to show equivalent flexibility in order to benefit NHS patients, taxpayers and indeed themselves.”

NHS England has agreed the terms of a commercial deal which has allowed NICE to confirm that it can now recommend this treatment as part of a managed access agreement (MAA), while additional evidence about its effectiveness is gathered over the next four and a half years.

During this period, patients will be able to receive this treatment where clinicians and parents agree that it is suitable.

What is Batten Disease?

Batten Disease is the common name for a range of rare, fatal, inherited disorders of the nervous system.

These genetic mutations disrupt the cells’ ability to dispose of wastes. Cells are thrown out of balance with the build-up of proteins and lipids (fats).

Most forms of Batten disease usually begin during childhood. Children with the disease often appear healthy and develop normally before they begin to show symptoms.

Common symptoms for most of the forms include vision loss, seizures, delay and eventual loss of skills previously acquired, dementia, and abnormal movements.

As the disease progresses, children may develop one or more symptoms including personality and behaviour changes, clumsiness, learning difficulties, poor concentration, confusion, anxiety, difficulty sleeping, involuntary movements, and slow movement.

Over time, affected children may suffer from worsening seizures and progressive loss of language, speech, intellectual abilities, and motor skills.

Eventually, children with Batten disease become blind, wheelchair bound, bedridden, unable to communicate, and lose all cognitive functions.

Approximately three to four children are diagnosed with a juvenile form of the disease each year, meaning there are probably between 30 – 40 affected children and young people in the UK.

The Background:

Melanie first became concerned about Matilda just before her second birthday, when she noticed she was slow to learn certain things and her speech was delayed.

She then began having seizures at three years old, and was diagnosed at the age of four.