Aimee Tilley says she is fighting to prolong the life of her six-year-old son who has Batten disease.
Isaac's parents Aimee and Adrian have had to adjust to his illness over the past year
Mrs Tilley, 35, says the family, who live in Kettering in Northamptonshire, are doing everything they can to make sure his life is as rich as possible. "We were told a genetic test performed eight months before had returned with a result of CLN2 Batten disease. The result had been delayed due to Covid."Isaac's sister Eva does not suffer from Batten disease, which is inherited
Mrs Tilley and doctors wondered if this was a side effect of his new medicine, but specialists said this wasn't the case.There a "barrage" of tests were carried out, she recalls. At the same time, Isaac's mobility was getting worse. Known as infusions, the treatment slows the progression of the disease by adding Brineura, a synthetic form of an important enzyme, into his brain fluid.Children with the disease are missing the TPP1 enzyme, which gets rid of rubbish from brain cells. Without it, the cells deteriorate, causing brain damage."He's their star patient because as soon as the doctors come into the room and gown up, he starts watching his iPad and just sits there.
"People used to talk to me about creating memories, and I used to think 'how can I do that when there's a massive black cloud over us?'," says Mrs Tilley."We went to the beach and played football, built sand castles, and spent quality time as a family, away from social media and the phones going off constantly.
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