Family of five year old boy diagnosed with childhood Alzheimer’s disease hopes to spread awareness and help other patients get their diagnosis earlier.

Little Isaac Tilley (five years old), was diagnosed in August with CLN2Batter Disease. After suffering for two year from various symptoms, including seizures and loss of mobility and speech delay, he had suffered from CLN2Batter disease since 2008.

Aimee Tilley (34), was stunned to discover that her son was diagnosed with childhood dementia. A variety of tests had confirmed his diagnosis.

Children with dementia have similar symptoms, and their life expectancy is greatly reduced.

The family of five-year-old Isaac Tilley who has been diagnosed with childhood dementia are hoping to raise awareness of the rare disease to help others get a diagnosis sooner. Pictured, with his mother, Aimee

Isaac Tilley’s family, five year old Isaac Tilley has been diagnosed as having childhood dementia. They want to spread awareness about the rare condition to make it easier for others to get their diagnosis. Aimee Tilley, Isaac’s mother.

Isaac was diagnosed with CLN2 Batten Disease in August after suffering from a range of symptoms - including seizures, loss of mobility, and delayed speech - for two years. Pictured, Isaac now

Isaac, who had been suffering from seizures and loss of mobility for over two years, was finally diagnosed with CLN2 batten disease in August. Pictured, Isaac now

Isaac has lost the ability to run, play football, ride his bike and scooter, and even walk without support in just eight months. Pictured, playing over the park

Isaac was unable to run, walk or play football in the last eight months. Playing in the park

A family of four that includes dad Adrian (46), and Eva (8) has been advised Isaac might not live to see his teens. His treatment is designed to slow the progress of the disease.

Aimee is Isaac’s primary carer.

“He also suffered from speech delay, and I once thought that he might have autism. I asked Isaac to see an Oxford neurologist after his private speech therapist noticed that something was not right.

“It was January of this year when I first noticed that his legs and hands were shaking and he wasn’t stable on his feet. This got worse over time and his speech wasn’t improving.

Isaac's mum Aimee was devastated to learn of her son's diagnosis after a range of tests confirmed he was suffering from the rare disease that is also known as childhood dementia. Pictured, Isaac in hospital

Isaac’s mother Aimee was shocked to hear that her son had been diagnosed with childhood dementia. A variety of tests revealed that he suffered from this rare condition. Pictured, Isaac in hospital

Isaac's symptoms mirror those of dementia, with children having a greatly shortened life expectancy. Pictured, Isaac as a baby

Isaac has dementia-like symptoms, and children have a shorter life expectancy. Isaac, as a baby

Aimee (pictured), who is now Isaac's full time carer, explained that when he was three, he had his first seizure and ten days later after another seizure, he was diagnosed with epilepsy

Aimee (pictured), Isaac’s sole caretaker now, said that Isaac was 3 when he experienced his first seizure. He was then diagnosed with epilepsy ten days later.

'It wasn't until January this year that Aimee noticed Isaac's hands and legs would shake and he was unsteady on his feet. Pictured, Isaac in hospittal

Aimee noted that Isaac was shaking his legs and hand and was unsteady on the feet. Pictured, Isaac in hospittal

CLN2 Batten syndrome; The mutation of CLN genes  

The chance of the child getting the disease is 25% if both parents are carriers.

Insufficient production of an important enzyme, which breaks down proteins and waste in the cells, is a problem in patients.

Slowly, speech, sight and movement are lost in the patient.

“He underwent an MRI and heart test in February. However, he was also given a lumbar puncture in August after receiving the results of an Epilepsy Panel Test, which had been taken at the local hospital the prior November. We were then diagnosed with CLN2 Batten Disease.

“We’d never heard of Batten Disease and we were sent an out-of-date leaflet. We were told he won’t live to his teenage years.

It’s a type of childhood dementia, where children gradually lose their abilities and then die.

In eight months, Isaac has lost his ability of running, playing football, riding his bicycle and scooter without any support, and walking even with assistance.

It’s so heartbreaking to watch. Although he wants to do them in his head, he is physically incapable.

“Before all this, Isaac had been so athletic that the only warning sign was Isaac’s delayed speech at the beginning. But it can also be attributed to many other factors. He’ll catch up. I heard that boys were lazy.

I want parents to have more information about Batten Disease. Isaac’s quality of living would improve if he had it diagnosed sooner. Children should begin treatment as soon as possible.

The family of four, who also consists of dad Adrian (pictured, right), 46, and Eva, eight, have been warned that Isaac (centre) may not make it to see his teenage years, with his treatment designed to slow down the progression of the disease. Pictured, Aimee, left

This four-member family also includes father Adrian (pictured right), 46 and Eva (pictured left), eighteen. They were warned Isaac might not be able to make it through his teens, as his treatment was designed to slow down progression. Aimee is left

Isaac was diagnosed with CLN2 Batten Disease in August after a long two years of multiple tests and doctors visits. Pictured, during treatment

Isaac was eventually diagnosed with CLN2Batter Disease after two long years and many tests. Picture of Isaac during his treatment

Isaac is currently on enzyme replacement therapy, which is given via brain infusions every two weeks at Great Ormond Street. Pictured, in hospital

Isaac currently has enzyme replacement therapy. He receives brain infusions once a week at Great Ormond Street. Pictured, in hospital

After two long years of numerous tests and visits to the doctor, Isaac was finally diagnosed with CLN2 batten disease in August.

According to the BDFA, only four children with juvenile Batten disease are identified each year. It is rare and hard to treat.

Aimee said, “I am so determined to raise awareness about it because not enough is known. I have found myself explaining what Batten Disease is to doctors and other healthcare professionals.”

“Everyone should be aware that this terrible disease can strike anyone, even though it is rare.

He was not able to fit in the epilepsy group he belonged to when he started having seizures. We should have known this as a warning sign, but it was ignored.

Aimee (pictured, with Isaac and Eva) said that no mother should have to watch their child go through this

Aimee, Eva and Isaac (pictured together) stated that it was wrong for a mother to have to witness their child’s experience.

Batten disease is an inherited condition, only passed down if both parents have the faulty gene. Thankfully, Isaac's sister Eva (pictured, together), does not have the condition

Batten Disease is an inheritable condition that can be passed from one parent to the other if they both have the defective gene. Isaac’s twin sister Eva (pictured here together) is not affected by the condition.

‘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.

It’s not cheap, it works and the children thrive on it. Although Isaac is still in the early stages of treatment, I think he will recover some skills.

“We were advised to anticipate decline up to twelve months, then he should plateau for some time.

‘His speech quality has dropped even further. He drools more now. He still has seizures from time to time.

“No mother should be forced to see their child suffer this.”

“Eventually, Isaac will go blind without the need for treatment and his body will stop functioning.”

Aimee said the family are desperate to make as many fun memories as they can - especially while Isaac (pictured) still has his sight

Aimee stated that the family wants to create as many memories and fun moments as possible, especially since Isaac is still blind.

Batten disease can only be passed on if the affected gene is present in both of your parents. Isaac’s older sister Eva does not suffer from the disease.

Isaac is still with the family, but they don’t know for how long. They are making every memory possible.

Aimee explained that while the treatment won’t cure it, it will slow down its progression. However, we are not sure how long.

“I want everyone to be able to recognize the warning signs, and to encourage their parents to seek out answers when something isn’t right.

We recently visited Thomas Land. In December, we will travel to Lapland UK. It’s my goal to have as many memorable moments for everyone possible. Isaac has vision, so I’m trying to make the most of it. 

Isaac's treatment goes directly into his brain to replace missing enzymes

Isaac has lost mobility and struggles to walk in a straight line

 Isaac’s treatment goes directly into his brain to replace missing enzymes (pictured left) and right, he has lost mobility and struggles to walk in a straight line

The family have no idea how long they have with Isaac and are trying to make as many memories as possible. Pictured, Isaac loved climbing

Isaac’s family doesn’t know how much time they will have together, so they are making every moment possible. Isaac was a keen climber.

“Making Memories together is my most important goal now. We have to be brave every day.

“I hope every day that a cure is found for Isaac and the rest of his little soldiers like him.

“I only want to increase awareness of this condition and encourage other parents look into it. Each day that I haven’t done more I feel regret.

The family is currently raising funds for modifications to their house, for equipment, and for making special memories with Isaac.

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