Parents beg NHS to fund "expensive" drug to keep children alive

With a smile on their faces, these beautiful children seem carefree and happy.

But their future is at stake, as a drug that has breathed new life into many people can be removed at any time.

Brineura is a revolutionary enzymatic replacement therapy. Without him, these children with CLN2 Batten disease will die.

It has been tested in the UK and licensed in 2017. But it is £ 500,000 per child per year – and has been deemed too expensive by the NHS and Nice, the National Institute of Health and Care d & # 39; excellence.

The incurable neurodegenerative disease affects 38 people in the UK and 300 worldwide, depriving children of speech, sight and ability to walk.

Brineura can slow down the disease and increase the life expectancy of 20 years. As a result, many children who take them lead a normal life, showing virtually no symptoms of Batten.

Some children in England took part in an essay or receive the drug for humanitarian reasons by the American pharmaceutical development company BioMarin. But that could end at any time.

Those who have just been diagnosed and do not take the drug will die unless it is available soon. Two children waiting for treatment have already died. It is currently available in 21 countries, including Wales. Now the families are fighting back and starting a legal challenge against the funding decision.

As a result, the Nice action and the NHS England are again in discussion with BioMarin.

But this delay has angered families, causing a father to leave Britain and move his son abroad to seek treatment to save his life. Brineura is delivered directly into the brain, via a device implanted surgically, twice a month in the hospital.

Without this drug, the average life expectancy of a child with Batten is ten years.

The drug was supposed to slow down the disease, but the parents of those who had already taken Brineura before the age of three had seen no sign of Batten.

The guidelines officially state that the drug gives the child 30 years of quality. It has been shown to reduce the rate of decline in the ability to speak and move.

CLN2 is a hereditary disease that causes a gradual, irreversible decline in the ability to speak and move, loss of balance, convulsions, blindness and ultimately death in children.

People with CLN2 do not have an enzyme called TPP1 or have too little, resulting in an accumulation of substances called lysosomal storage materials.

In people with CLN2, these substances accumulate in certain parts of the body, mainly the brain. Without drugs, people begin to lose their abilities as their condition deteriorates and brain cells die.

People who suffer from it can die from a variety of conditions including convulsions leading to coma, pneumonia or bowel failure.

After a recent meeting, NHS England and the pharmaceutical group agreed with Nice to undertake a review of the drug.

Samantha Barber, Executive Director of the Batten Disease Family Association, said: "Brineura is the first treatment for all forms of Batten's disease. It stabilizes children as they are treated. It is not a cure, but it greatly improves the quality of life of our children and their families. For those who know the ravages of Batten's disease, it's like night and day.

Matilda Moffatt

Matilda, 10, was the first child in Britain and the fourth in the world to participate in the Brineura trial.

Her mother, Melanie, 42, from Leyland, Lancashire, said, "She's put herself in danger of testing this drug to help save many more children.

"But she could die if the NHS did not make it available.

"If she had not had the treatment, she would be dead now."

Matilda was normal until the age of three, when she began to have seizures and speech delays.

Batten was diagnosed at the age of four, while BioMarin was looking for children to participate in a clinical trial in the UK.

Melanie said, "It was said that Matilda would die and although the lawsuit could be risky, I was willing to do everything in her power to save her life."

Matilda went to Downing Street to meet Samantha Cameron to highlight the plight of children with rare diseases.

She also had a secret visit to the hospital of her idol, singer Emile Sande.

Matilda travels to London's Great Ormond Street Hospital twice a month to receive the medicine, which is infused into her brain.

The average age of a child to live without treatment is 10 years.

Melanie said, "She goes to school and enjoys her life.

"It's up to Matilda to say when she's ready to die, not to the NHS.

"Without drugs, she will die quickly.

"Why, when she puts her life in danger to help others, should she be sentenced to death?

"Why is the government allowing these tests if it does not make the drug available?

"Matilda's trial ends in October and in a gesture of goodwill, she will continue to make compbadionate use for a short time. But unless the NHS makes it available in England, she will die. "

Ollie and Amelia Carroll

The eight-year-old Ollie, who runs Ollie's army to publicize Batten, captured Prince Harry's heart when he met him three years ago at the WellChild Awards.

Harry visited him later at the hospital. When Ollie was two, parents Lucy, 34, and Mike, 35, noticed that her speech was not as good as other kids her age.

Health professionals said he would catch up, but he also continued to stumble and was clumsy.

At three and a half years old, he had a seizure and was diagnosed later with Batten's disease. His sister Amelia was two years old at the time.

Soon after, doctors said that there was a 25% chance that Mike and Lucy's children would also have the disease. Blood tests revealed that their sons Danny and Mikey were clear, but Amelia had it. Lucy said, "Getting the news a second time was even worse than the first. "Both are receiving the compbadionate use medication that is due to be completed next year.

Lucy said, "Amelia has had the drugs so young that she shows no symptoms of the disease. She is at school and looks like any other child. The drugs helped prevent illness, otherwise we would not have our children. "

Lucy and Mike have paid more than £ 30,000 for a judicial review to fight the refusal to make the drug available here.

They said: "We had a compbadionate use because BioMarin thought that in a short time we would take the medicine via the NHS and that the children started. If it's a non-final, they can simply take it off and they have no chance. "

James Toohey

James, eight, has been involved in the addiction trial for five years – but his mother, Kate, fears for his future when it ends next year.

Kate, 31, Liverpool's single mother, says, "I call it the miracle drug. James learns to play football and loves to run. Without that, he would not be here.

Kate says that James started having seizures at age three.

"The trial helped prevent the disease," she says. "It is on trial until next year, but when that ends, we will be at the mercy of the NHS.

"It's a charming boy, smiling and smiling. If he does not have drugs, he will lose his smile, his word, his eyesight. He is really a poster for treatment and I join other families in fighting for this. We will not give up.

Grace Thompson

Four-year-old Smiley Grace was diagnosed early last month and is not receiving treatment.

His mother, veterinarian Izabela Swierczyska, 37, of Chesterfield, said Grace was a healthy child.

But in February, David, 52, of Grace's father, Izabela, noticed that her speech was confused and she kept falling.

Izabela said: "When I was told that she was suffering from Batten's disease, it was said that there was no treatment.

"But I googled it and discovered the drug. If the NHS does not act fast, Grace will die. It gets worse every day.

"Others have died waiting for treatment. The NHS kills our children. They are supposed to save lives, not take them.

"This is just devastating for us."

Jessica and Nicole Rich

Sisters Jessica and Nicole thrive in the drug trial.

Jessica, now four years old, was the youngest to join the trial, barely 15 months old.

Her mother, Gail, 41, of Newcastle upon Tyne, said, "She is the poster girl for this treatment.

"She has no symptoms because she was picked up early and treated.

"She does everything, she's amazing.

"And because it was picked up so early, it could be a cure for her."

Gail and her husband Matthew, 31, met below with the girls, have now joined Lucy and Mike Carroll during their judicial review.

Jessica's seven-year-old sister, Nicole, was diagnosed at four years old.

Gail said, "Since treatment, his condition has stabilized. She has a nice little life. She goes on horseback and is doing very well.

Max Sewart

Max, eight years old, was diagnosed with late-life Batten for children and offered a free six-month treatment to BioMarin – but the NHS refused.

Now, Max and his father Simon, 43, of East Harptree, Somerset, leave Great Britain for treatment in Holland. Simon will leave his wife Ivana, 39, and his youngest son Felix, five, at home.

Software developer Simon said, "It's shameful. I pay my taxes but Max is denied this treatment.

"The disease is progressing rapidly and in the last five months I have seen a decline in Max. We do not have time to wait while the NHS and Nice try to make a decision.

"If I do not act now, he will die. Children die while the NHS drag their feet.

He added: "I spoke to a specialist in Rotterdam and if we can get our insurance, Max will start treatment there.

"I will move my business, I will be resident and Dutch taxpayer from August 12, so that Max can be treated. It is ridiculous to leave the UK to save our son's life. What is going on?"