At just three years old, little Isaac Tilley had his first of many seizures.
He was quickly diagnosed with epilepsy and also suffered from delayed speech, and his mother Aimee Tilley believed he might be autistic as well.
The 34-year-old asked for Isaac, now five, to be referred to a neurologist in Oxford after his speech therapist noticed “something was wrong”.
She said: “It wasn’t until January of this year that I noticed his hands and legs were shaking and he was unsteady on his feet, it got worse over the next few months and his speech was still not being done either.
“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.
âWe had never heard of Batten’s disease and we were given an expired flyer and told us that he would not be able 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.”
She explained that the condition meant that Isaac lost the ability to run, play football, cycle and scooter, and even walk without support in just eight months.
Aimee added: âIt’s heartbreaking to watch. In his head he still wants to do these things but physically he can’t.
âBefore 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.
âI 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 currently has.
âThe earlier children start treatment, the better.
According to the BDFA (Family Batten Disease Association), only four children are diagnosed with the juvenile form of Batten disease each year, making the disease rare and difficult to treat.
Now Aimee is desperate to raise awareness of the disease as she sometimes says she has even had to explain to doctors and other professions what the disease is.
âEveryone should be aware of this vile disease, it can be rare, but it can affect anyone.
What is Batten disease?
Batten disease, also known as neuronal ceroid lipofuscinosis, is a fatal disease that affects the nervous system.
The condition, which usually begins in childhood, can manifest as vision problems and seizures.
It can then worsen, children suffering from cognitive impairment, worsening seizures and a progressive loss of sight and motor skills.
It is often fatal in the late teens or early twenties.
According to BDFA UK, around 1 in 3 children are diagnosed with an infantile form of the disease each year, which means there are likely between 15 and 30 children affected in the UK.
There are other variants of the genetic disease, with 14 strains diagnosed to date.
There is currently no cure.
Know the signs
Parents may notice symptoms early, including vision problems or seizures.
Some early signs can be subtle and include changes in personality or behavior such as slow learning, clumsiness, or stumbling.
Symptoms worsen over time and may include cognitive impairment, worsening seizures, and progressive loss of sight and motor skills.
Later in the disease, children become blind and suffer from dementia, and people with latte disease will usually die in their late teens or twenties.
âWhen 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.
âIsaac 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 Â£ 500,000 per child per year.
“I understand it’s expensive but it works and the kids thrive on it! We’re still so early in treatment that we still see Isaac going downhill but I think like other kids he’ll get some of his lost skills back.” , she said.
The family were told to expect a decline for up to 12 months, then it should stabilize for a while.
She said: “His speech has diminished even more, he drools 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 his confidence since he has dropped so much and his mobility keeps declining.
âNo mother should have to watch her child go through this.
“Eventually, without treatment, they would expect Isaac to go blind and his body to die off.”
I want people to know the signs and encourage parents to ask for answers if something doesn’t seem right
Batten disease is an inherited disease, passed only if both parents have the defective gene.
Fortunately, Isaac’s sister, Eva, does not have the condition.
The family have no idea how long they have with Isaac and try to make as many memories as possible.
Although the treatment will not cure, it should slow the progression, but the family does not know for how long.
Aimee said: âI want people to know the signs and encourage parents to ask for answers if something doesn’t seem right.
âWe 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.
âCreating memories together is the most important thing for me now and we have to have a brave face every day.
âI 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 study it and do their research. I live with the regret that I haven’t done more.”
The family is currently fundraising for adaptations necessary for their house, their equipment and to make memories with Isaac.
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