AT just three-years-old, little Isaac Tilley had his first of many seizures.
He was soon diagnosed with epilepsy and was also as also suffering from speech delay, and his mum Aimee Tilley thought he might also have autism.
The 34-year-old asked for Isaac, now five-years-old, to be referred to a neurologist in Oxford after his private speech therapist noticed that 'something wasn't right'.
She said: "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.
"We had never heard of Batten disease and were given an out of date leaflet and told he wouldn't make it to see his teenage years.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."
She explained that the condition has meant that Isaac has lost the ability to run, play football, ride his bike and scooter, and even walk without support in just eight months.
Aimee added: "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 BDFA (Batten Disease Family Association), only four children are diagnosed with the juvenile form of Batten disease every year, making the disease rare and difficult to treat.
Now, Aimee is desperate to raise awareness of the condition as she says at times, she has even had to explain to doctors and other professions what the condition is.
"Everyone needs to be aware of this vile disease, it may be rare but it can affect anyone.
What is Batten disease?
Batten disease, otherwise known as Neuronal Ceroid Lipofuscinoses, is a fatal disorder that affects the nervous system.
The condition, which typically begins in childhood, can manifest itself in vision problems and seizures.
It can then worsen, with children suffering from cognitive impairment, worsening seizures, and progressive loss of sight and motor skills.
It is often fatal by late teens or early 20s.
According to BDFA UK, an estimated 1 – 3 children are diagnosed with an infantile form of the disease each year, meaning there are probably between 15 and 30 affected children in the UK.
There are other variations of the genetic disease, with 14 strains so far diagnosed.
There is currently no cure.
Know the signs
Parents may notice early symptoms including vision problems or seizures.
Some early signs can be subtle and include personality or behaviour changes like slow learning, clumsiness, or stumbling.
Symptoms get worse over time and might include cognitive impairment, worsening seizures, and progressive loss of sight and motor skills.
Later on in the disease, children become blind and get dementia and batten disease suffers will typically die by their late teens or twenties.
"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", she said.
The family have been told to expect decline for up to 12 months and then he should plateau for a while.
She said: "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."
I want people to know the signs and encourage parents to push for answers if something doesn't seem right
Batten disease is an inherited condition, only passed down if both parents have the faulty 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.
While the treatment isn't a cure, it should slow down the progression, but the family don't know how long for.
Aimee said: "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 everyday.
"I live in hope everyday 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 everyday I didn’t do more."
The family are currently fundraising for adaptations needed for their home, equipment and making memories with Isaac.
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