Threat to son's treatment for rare disease 'agony'

A mother has spoken about her "painful" experience over the potential end to her son's life-enhancing treatment for a rare genetic disorder.

Aimee Tilley, from Kettering in Northamptonshire, was participating in a rally in Westminster on Wednesday after being told NHS access to the drug Brineura, which slows the progress of Batten disease, was set to end in May.

Her son, Isaac, eight, had CLN2 Batten disease diagnosed in August 2021. It is an incurable condition which causes childhood dementia, epilepsy and loss of sight.

Ms Tilley said: "It is agonising. We face enough difficulties with our children as it is. The fact we've got this black cloud hanging over us... you almost can't put it into words, it's painful. We shouldn't have to be doing this."

Batten disease causes a rapid decline in a child's ability to walk, talk and see, and is estimated to affect about 40 children in the UK - with an average life expectancy of about 10 years.

Brineura is the only approved treatment that slows the condition's progress.

Health officials claim "constructive" talks are being held with the drug's manufacturer over continued access to it.

Since starting Brineura treatment, Isaac has experienced significant improvements in his quality of life, engaging in activities such as horse riding, swimming, and skating.

Ms Tilley added that during the rally she had met her local MP, Rosie Wrighting, who pledged to support the families' cause.

Ms Wrighting said: "It was amazing to meet Aimee, Isaac and family in Parliament yesterday, and hear about the campaign for children with Batten disease.

"I was really touched by the strength they have shown in campaigning for Isaac and other children across the UK.

"I also met with other MPs, parent experts and campaigners, and will work with them and continue following closely any updates from NICE [National Institute for Health and Care Excellence]."

Ms Tilley added: "These children have skills. [Brineura] gives them the quality of life that they deserve. It's given them years of quality life they would never have had."

"We will never ever stop fighting. [The government should] back us and do the right thing."

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