Family's plea over Batten's drug to keep Yorkshire toddler Connie alive

There is a spark in toddler Connie Annakin's eyes, a tiny light that could thrive were it not for negotiations over the cost of her life.

Connie Annakin, aged three, who has been diagnosed with the fatal genetic condition Batten disease, pictured with mother Caroline Day.

She was diagnosed with rare genetic condition Batten disease six weeks ago, which will rob her of her abilities before she takes her final breath. She might not see the age of six.

While there is a wonder-drug that could stave off symptoms for up to 30 years, it is deemed too expensive, and her family fear negotiations are taking too long.

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All as a chance at life for a three-year-old hangs in the balance.

Connie Annakin, aged three, who has been diagnosed with the fatal genetic condition Batten disease, pictured with mother Caroline Day.

"She's got a death sentence hanging over her, without treatment," says mother Caroline Day, from Farsley in Leeds.

"It's torture knowing there's something that could save her, but because of money and politics we're not allowed to have it.

"The more time goes on, the longer negotiations go on, it just gives the disease more time to ravage her body."

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Batten disease will rob Connie of her ability to walk, talk, eat and eventually breath

The rollercoaster began in April, after Connie's speech regressed. Having hit all her milestones, she suddenly stopped talking. Then the seizures began.

"It was the longest six weeks of my life, waiting to find out what it was," says Miss Day. "Of all the things it could have been, Batten's was the worst as it's fatal.

"It will take away her sight, her ability to eat, walk, talk, eventually breath. She'll be in a wheelchair, she will be tube-fed, and then she will get dementia.

"It's the most dreadful disease I've ever heard of. It's just a devastating diagnosis."

Connie Annakin, pictured with mum Caroline Day, grandmother Mavis Day, and brother Elliott Day.

While there is no cure, there is a treatment for the type of Batten's that Connie has.

In trials, it has been found that enzyme replacement therapy, from BioMarin, could halt the effects of the disease, giving her an extra 30 years of life.

But it is expensive, and could cost £500,000 a year. It is now deemed not cost-effective by NICE, and is therefore not recommended as a treatment for the NHS.

Even if the family could raise the funds themselves, it is not available privately, only through one NHS doctor at Great Ormond Street Hospital who can carry out the procedure.

Connie Annakin, with mum Caroline Day, is too young at three to understand what is happening and is oblivious to the impact on her family.

His hands are tied; there isn't enough of the drug left over from the clinical trials, and no hope of getting more for free.

Fears over 'ticking time bomb'

There are only a handful children in the UK that missed the trials, and their families are now fighting. While negotiations over cost have now reopened, Miss Day fears a decision could come too late.

"The disease is something that is out of anybody's control," says Miss Day, 41. "But the decision - as to whether she could be saved or not - is actually in the hands of people.

"It's a ticking time bomb, waiting for them to decide. What I'm asking for is a decision date to know if my daughter is allowed to live or die.

"It would not only save her life, by stopping the Battens symptoms emerging, but it would give her a normal life.

"She would be able to go to mainstream school, she would be able to dance. She would be like any other child."

Family fight

Connie is too little to understand much of what is happening, and the impact so far is still small.

She suffers seizures, and can't do as much. At sports day at nursery, she had to be helped over the finish line.

But at three, she is oblivious to the torment of those around her.

She potters contentedly in the garden with big brother Elliott, 13, trailing a fluffy white bunny as she totters along with a pink shopping trolley.

Bending to pick a flower, she laughs before trying to push it back among its leaves. She is innocent to what awaits.

In her bubble, says her mother, Connie is happy. While there was a fear, immediately after diagnosis, that she should fill her every day with Disney-esque magic, that has dissipated.

What is left is a determination to fight for her daughter's life.

"I can't let myself think about what our life would be like if she doesn't get the treatment, because I wouldn't have the strength to get out of bed every morning," said Miss Day.

"I've got to be strong and keep fighting for her."

Drug not 'value for money'

The drug is not recommended for use on the NHS, after advisory body NICE found there wasn't enough evidence that it could stabilise the condition long term, or prevent death.

The drug had proven "substantial" short term benefits, it conceded, but could not consider it value for money given its cost. Negotiations have now reopened.

“After the NICE Highly Specialised Technologies committee meeting held on July 25, NHS England and the company have agreed with NICE to undertake further work on the value proposition of cerliponase alfa for consideration by the committee," a spokesman said.

"We envisage this work will be completed in the near future. NICE will not issue draft final guidance on this topic while these discussions are ongoing."

The drug is commissioned in a number of other countries, and one family facing the same situation as Connie's is now moving to Holland.

The NHS argues the drug should be "fairly and responsibly" priced to offer patients access at a cost which offers the best possible value for the public, while allowing investment in research and development.

An NHS spokesperson said: “To date BioMarin has not been prepared to supply Cerliponase Alfa at a fair and reasonable price to the NHS, so we are pleased that following our request and the wishes of patients, their families, and MPs, BioMarin has now agreed to re-enter discussions with us."

Since Connie's diagnosis, the family has been inundated with offers of support and kind strangers coming forward to see if they can help.

- A fun day is to be held at the Phoenix Rugby Club, Bramley, on the afternoon of October 6, free to families. For information contact [email protected]

- A crowdfunding page has also been set up to support Connie's family in their campaign, and to help make every day special for the little girl. To support the campaign, search 'make memories with Connie' on JustGiving.