A mum of two little girls who were born with an extremely rare genetic illness has made a heartfelt plea for people to support a campaign to make a vital drug available on the NHS.

Gail Rich's daughters Nicole, five, and Jessica, two, suffer from Batten disease, an incurable degenerative brain condition.

Over time, if untreated, children with Batten's suffer mental impairment, seizures and progressive loss of sight, speech and motor skills.

In most cases it will prevent children from reaching their teens.

The Rich family have been dealing with the diagnosis of both girls for more than a year and the pair are receiving pioneering treatment as part of two separate trials by drugs company BioMarin.

Gail, from Carlisle, and husband Matthew, have to deal with taking Nicole to Great Ormond Street in London for enzyme replacement therapy while Jessica is flown out to Hamburg, Germany, regularly for her treatment.

And the treatment is working, according to Gail, 40, and medics who are supporting them.

"Nicole has responded amazingly well to the treatment," Gail told The Cumberland News .

"Everyone says she's like a different girl, she's happier, brighter, less agitated and doing really well at school."

Jessica was diagnosed with Batten's a few months after Nicole, but because of her age had yet to show symptoms. They both have a strain known as CLN2.

She was accepted onto a trial in Germany by the drugs company with the hope it would limit or even prevent the symptoms from ever flaring up.

"Now she's on infusion number 19," Gail, who grew up in Carlisle's Newtown Road but now lives in Newcastle with husband Matthew.

"She is also doing amazingly well. She does not show any symptoms whatsoever. Jessica is perfectly healthy, can put her words together, she climbs and puts on her clothes perfectly fine and is only two.

"It's not just us saying this, it's the clinical team in Hamburg.

"Without doubt it's working. We see the children in the hospital in London from the original trial and those children are absolutely remarkable."

But unfortunately the drug, known as Cerliponase Alpha, is not available on the NHS and costs £500,000 per child per year. However, it is available in Germany and the US and has been backed by medical experts.

Gail has been heavily involved in the Batten Disease Family Association's (BDFA) bid to encourage the National Institute for Health and Care Excellence (NICE), a committee which gives recommendations to the Department of Health, to approve the drug to be funded by the NHS.

However, at a meeting this week, which Gail attended, NICE said it would not be recommending it.

According to reports, NICE decided there is not enough long-term evidence about the effectiveness of the drug to make it available on the health service.

In response to the decision the BDFA has launched a petition and since Monday it has attracted more than 35,000 signatures of support. They are calling for a rethink on the decision.

"We need everyone to go on and sign it to support the cause, we have a second chance," Gail said.

Currently there are two families in the UK that are not able to access the drug through any kind of trial and anyone new being diagnosed would not have access to it either. This is why the BDFA and the Rich family are urging the authorities to take action.

Dr Peter Jackson , chair of the NICE committee, said: “The committee agreed that, although cerliponase alfa is not a cure for CLN2 disease, it is an innovative treatment that is effective in the short-term in slowing the rate at which it progresses.

"Given the significant burden this disease places on parents and carers of children with the condition, and the subsequent negative impact this can have on the quality of their lives, anything that can help to improve the treatment of these children is to be welcomed.

“However, in the absence of long term evidence about its effectiveness in stabilising the disease and preventing death, and having taken all the health and non-health- related benefits of cerliponase alfa into account, the committee considered that the drug was not a good use of NHS resources.

“The committee welcomed the company’s intention to engage with NHS England to develop a managed access agreement to address clinical and financial uncertainties, but it concluded that it could not recommend cerliponase alfa for use in the NHS in England based on the current submission."

* The petition can be found by

clicking here

.

What is Batten disease?

According to the BDFA, Neuronal Ceroid Lipofuscinoses (NCLs) are several different genetic life-limiting neurodegenerative diseases that share similar features and are commonly referred to as Batten disease.

It was initially recognised in 1903 by Dr Frederik Batten but it wasn’t until 1995 that the first genes causing Batten disease were identified.

Since then more than 400 mutations in 13 different genes have been described that cause the various forms of Batten disease.

It is estimated that about 11 to 17 children, young people and adults are diagnosed with a form of the disease each year, meaning there are between 100–150 affected individuals currently living with the disease in the UK.

Gail left Carlisle in 1999 to move over to Newcastle for work purposes but her mum Kathleen Baxter, who worked at McVities, still remains in the city. Her dad Michael Baxter, who worked for Metal Box, lives in Dalston.

Gail and Matthew also have a seven-year-old son Louis.