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.
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, 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 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 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 has dementia-like symptoms, and children have a shorter life expectancy. Isaac, as a baby
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.
Aimee noted that Isaac was shaking his legs and hand and was unsteady on the feet. Pictured, Isaac in hospittal
“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.
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 eventually diagnosed with CLN2Batter Disease after two long years and many tests. Picture of Isaac during his treatment
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, 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 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 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 (pictured left) and right, he has lost mobility and struggles to walk in a straight line
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.
To donate, visit: https://gofund.me/9c0960f5 and http://www.bdfa-uk.org.uk/donate/