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Isaac Tilley was diagnosed with Batten CLN2 disease in August. The disease is also known as childhood dementia and reduces the life expectancy of children.

Isaac Tilley in the hospital

A five-year-old boy has been diagnosed with rare childhood dementia, and his devastated family is now raising awareness of the disease.

Little Isaac Tilley suffered from a variety of symptoms, including seizures, loss of mobility and delayed speech for two years.

Her mother Aimee Tilley, 34, was devastated when she was diagnosed with Batten’s CLN2 disease in August.

This rare disease is also known as childhood dementia and reduces the life expectancy of children.

Isaac’s mother, father Adrian, 46, and sister Eva, eight, have been warned that he may not reach adolescence, even though his treatment is designed to slow the progression of the disease. sickness.

Isaac lost the ability to play football, run and even walk in just eight months, his mother said.

The boy was diagnosed with Batten’s disease in August


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Aimee, who is now Isaac’s full-time caregiver, said: “When he was three he had his first seizure and 10 days later, after another seizure, he was diagnosed with epilepsy.

“He was also suffering from a speech delay and at one point I thought he might be autistic. His private speech therapist noticed something was wrong, which encouraged me to request that Isaac be referred to a neurologist in Oxford.

“It wasn’t until January of this year that I noticed his hands and legs were shaking and he was wobbling on his feet, it got worse over the next few months and his speech was still not happening. neither.

“He had an MRI, heart tests, blood tests and a lumbar puncture in February, but it was not until August, after receiving the results of an epilepsy panel test, carried out the previous November. in our local hospital we had the devastating diagnosis of Batten disease CLN2. “

Mum Aimée with her son Isaac


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The mother added: “We had never heard of Batten’s disease and we received an expired flyer and said he would not get to see his teenage years.

“It is classified as a form of childhood dementia because children gradually lose all of their skills and eventually die.

“Isaac lost the ability to run, play football, cycle and scooter, and even walk without support in just eight months.

“It’s heartbreaking to watch. In his head he still wants to do these things but physically he can’t.

“Before that, Isaac was so athletic that the only warning sign we had was his delayed speech at first, but that can be attributed to a lot of other things. I’ve been told, boys are lazy, he goes. catching up, which was so frustrating.

“I want more parents to know about Batten disease and be aware of the early symptoms, because if it had been diagnosed earlier Isaac would have a much better quality of life than he does now. The sooner the kids start. the better the treatment. “

According to the Batten Disease Family Association, only four children are diagnosed with the juvenile form of Batten disease each year, making it rare and difficult to treat.

Isaac during the treatment of the disease


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Aimee added: “I’m so desperate to raise awareness because not enough is known about it and found myself explaining to doctors and other healthcare professionals what Batten disease is. .

“Everyone should be aware of this vile disease, it can be rare, but it can affect anyone.

“When he had seizures he was not in a particular group for epilepsy, which should have been our first warning sign, but it was not investigated.

“Isaac is currently undergoing enzyme replacement therapy, given by brain infusions every two weeks at Great Ormond Street, which is currently funded by the NHSE but in 2024 it could be phased out as it costs £ 500,000 per child per year.

“I understand it’s expensive but it works and the kids get richer! We’re still so early in treatment that we still see Isaac going downhill but I think like other kids he will get some of his lost skills back.

“We were told to expect a decline for up to 12 months, then it should stabilize for a while.

Isaac photographed as a baby


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“His speech has gone down even more, he’s drooling now, he still has seizures from time to time, he can’t stand still, he has lost a lot of core strength, he doesn’t like to walk without support because he has lost confidence in himself since his fall so much and his mobility continues to decline.

“No mother should have to watch her child go through this. Eventually, without treatment, they would expect Isaac to go blind and his body to turn off.”

Batten disease is an inherited disease, passed only if both parents have the gene.

Fortunately, Eva, Isaac’s sister, does not have this disease.

The family have no idea how long they have with Isaac and try to make as many memories as possible.

Aimee said: “The treatment is not a cure, it will slow the progression but we don’t know for how long.

“I want people to know the signs and encourage parents to ask for answers if something doesn’t seem right.

“We recently went to Thomas Land and are going to Lapland in the UK in December. I am desperate to create as many fun memories for us while we can. Especially while Isaac still has his sight.

“Creating memories together is the most important thing for me now and we need to be courageous every day.

“I live in the hope every day that a cure will be found to save Isaac and all the other little warriors like him.

“I just want to raise awareness about this disease and encourage other parents to look at it and do their research. I live with regret every day that I haven’t done more.”

The family is currently fundraising for the necessary adaptations to their home, equipment, and to make memories with Isaac.

To donate, click here.

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