A five-year-old boy has been diagnosed with rare childhood dementia, with his devastated family now raising awareness of the condition.
Little Isaac Tilley suffered from a range of symptoms including seizures, loss of mobility, and delayed speech for two years.
His mum Aimee Tilley, 34, was devastated when he was diagnosed with CLN2 Batten disease in August.
The rare condition is also known as childhood dementia and causes kids to have a shortened life expectancy.
Isaac's mum, his dad Adrian, 46, and sister Eva, eight, have been warned he may not reach his teenage years, even though his treatment is designed to slow down the progression of the disease.
Isaac lost the ability to play football, run and even walk in just eight months, his mum said.
Aimee, who is now Isaac's full-time carer, 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 speech delay and at one point, I thought he may have autism. His private speech therapist had noticed something wasn't right which encouraged me to ask for Isaac to be referred to a neurologist in Oxford.
"It wasn't until January this year that I noticed his hands and legs would shake and he was unsteady on his feet, this got worse over the next few months and his speech still wasn't coming along either.
"He had an MRI, heart tests, blood tests, and a lumbar puncture in February but it wasn't until August, after receiving results from an Epilepsy Panel test, taken the previous November at our local hospital, that we were given the devastating diagnosis of CLN2 Batten disease."
The mum added: "We had never heard of Batten disease and were given an out-of-date leaflet and told he wouldn't make it to see his teenage years.
"It's classed as a form of childhood dementia as children progressively lose all their skills and eventually die.
"Isaac has lost the ability to run, play football, ride his bike 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 this, Isaac was so athletic so the only warning sign we had was his delayed speech in the beginning but that can be put down to a lot of other things. I was told, boys are lazy, he'll catch up, which was so frustrating.
"I want more parents to know about Batten Disease and to be aware of early symptoms because if it had been diagnosed sooner, Isaac would be having a much greater quality of life than he does currently. The sooner children start treatment, the better."
According to the Batten Disease Family Association, only four children are diagnosed with the juvenile form of Batten disease every year, making it rare and difficult to treat.
Aimee added: "I'm so desperate to raise awareness because there isn't enough known about it and I've found myself explaining to doctors and other health professionals what Batten disease is.
"Everyone needs to be aware of this vile disease, it may be rare but it can affect anyone.
"When he was having seizures, he didn't fit into a particular group for epilepsy which should have been our first warning sign but this wasn't investigated.
"Isaac is currently on enzyme replacement therapy, given via brain infusions every two weeks at Great Ormond Street, which is currently funded by NHSE but in 2024, it could be taken away as it's costing £500,000 per child per year.
"I understand it's expensive but it works and children are thriving on it! We are still so early into treatment that we are still seeing Isaac decline but I believe like the other children he will gain back some of his lost skills.
"We were told to expect decline for up to 12 months and then he should plateau for a while.
"His speech has declined even more, he drools now, he still has seizures now and then, he can't stand still, he's lost a lot of core strength, he doesn't like to walk unsupported because he's lost his confidence since falling so much and his mobility is continually declining.
"No mother should have to watch their child go through this. Eventually without treatment, they would expect Isaac to go blind and his body will shut down."
Batten disease is an inherited condition, only passed down if both parents have the gene.
Thankfully, Isaac's sister Eva does not have the condition.
The family have no idea how long they have with Isaac and are trying to make as many memories as possible.
Aimee said: "The treatment isn't a cure, it'll slow down the progression but we don't know how long for.
"I want people to know the signs and encourage parents to push for answers if something doesn't seem right.
"We recently went to Thomas Land and are going to Lapland UK in December. I'm desperate to make as many fun memories for us all while we can. Especially whilst Isaac still has his sight.
"Making memories together is the most important thing to me now and we have to put a brave face on every day.
"I live in hope every day a cure will be found to save Isaac and all the other little warriors like him.
"I just want to raise awareness for this condition and encourage other parents to look into it and do their research. I live with regret every day I didn't do more."
The family is currently fundraising for adaptations needed for their home, equipment and making memories with Isaac.
To donate, click here.
