ISAAC Tilley was like any other two-year-old boy; he was a “bundle of energy” who loved football and cuddles with his older sister.
But weeks after his third birthday, he suffered a terrifying seizure while at the beach on holiday. Then his parents were given the worst news of all – he likely wouldn’t live beyond the age of 12.
Her concerns grew when the youngster had a seizure while on holiday a year later[/caption]
Here, his mum Aimee, 38, shares her family’s heartbreaking journey after Issac’s shock diagnosis, as they make precious memories together before time runs out.
Watching my two-year-old son kick his football around the back garden, I couldn’t help but smile.
I said to my husband, Adrian: “I can’t believe how good he is.”
Isaac was so skilful for his age that we were convinced he’d play in the Premier League one day.
He’d always been a bundle of energy. If he wasn’t kicking a ball, then he was climbing or just running around.
But he loved his cuddles too and doted on his five-year-old sister, Eva.
Just a few weeks on, in 2018, I took Isaac for a routine check with the health visitor.
When she picked up he had a speech delay and suggested speech therapy, I wasn’t that worried.
Though his words still weren’t clear, I always knew exactly what he was saying, and he’d hit all his other milestones ahead of time.
But when Isaac turned three, our world started falling apart.
In August 2019, we were on holiday with my in-laws in Hunstanton, Norfolk, and had driven to the seafront.
As we were about to get out of the car, Isaac said, “Mummy” – only it came out all slurred.
Suddenly, his eyes glazed over and started twitching, and his body went floppy.
We then realised he wasn’t breathing properly.
Adrian scooped Isaac up, and we ran towards a group of paramedics who luckily happened to be working at a seaside event.
By now, Isaac’s body was shaking violently, and one of the paramedics confirmed it was a seizure.
I always urge people to slow down and really appreciate life because my brave boy’s battle has opened my eyes to what truly matters
Aimee Tilley
It was terrifying. But thankfully, after five minutes, it stopped.
Isaac was taken to hospital, where a CT scan came back all clear, and later, we were told an MRI scan looked normal too.
It was a huge relief. But just 10 days on, Isaac suffered another seizure and was diagnosed with epilepsy.
Unfortunately, none of the medications we tried stopped the seizures, and life felt out of control.
‘Nothing could have prepared us’
When Isaac was four, his walking suddenly changed. He started taking long, wide steps with his arms stretched out, as if to steady himself.
But because of the pandemic, doctor’s appointments weren’t face-to-face, so medics couldn’t make a proper assessment, even when I filmed him walking.
Then, eight months later, in August 2021, we were waiting for the results of intense blood testing Isaac had undergone when a nurse called me and said: “Can you come in earlier, and can you bring someone with you?”
I knew instantly it was bad news, but nothing could have prepared us for what we were about to be told.
“Isaac has CLN2 Batten disease,” a doctor explained.
Aimee and her partner Adrian say their world came crashing down when Isaac started school[/caption]
It’s a severe, degenerative genetic disorder that affects the nervous system.
It is essentially a form of childhood dementia, and it means our son will lose all of his motor skills, as well as his sight.
When the doctor mentioned the phrase “life expectancy”, Adrian tearfully asked how long Isaac had left. We were told he would not likely live beyond the age of 12.
It all just seemed so cruel. But something inside me snapped, and I thought: “No, I’m not going to let this disease take my boy.”
One day, Eva caught me in tears, and she asked why I was crying so much.
“It’s not like Isaac is going to die,” she said. As young as she was, I knew we had to reply with the truth.
I told her: “Isaac has a poorly brain. We don’t know exactly what’s going to happen, but we know Isaac isn’t going to make it to be a man like Daddy.”
I’m not sure how much she understood.
He was initially diagnosed with epilepsy that didn’t respond to medication[/caption]
Things progressed quickly. Isaac had surgery to fit a device into his brain so he could receive infusions of a so-called wonder drug called Brineura, which slows the progress of the disease.
Our family, friends, and local community in Kettering, Northamptonshire, all stepped up too.
My sister created a fundraiser to help with all the adaptations needed in our house to look after Isaac safely.
Another fundraiser raised an amazing £5,000, enabling us to go to Disneyland Paris in November 2022, before Isaac lost his sight.
Isaac started at a school better suited to his needs and, six months in, he began using a walker to get around.
Aged seven, he had lost his central vision, which meant he could only see a few feet ahead of him.
Then, when Isaac turned eight, Adrian came home one day with an unexpected proposition.
He loved taking part in IRONMAN events and said: “They’ve got IRONKIDS Wales coming up. Why don’t we enter Isaac?”
What is batten disease?
BATTEN disease is a group of genetic conditions that cause cells to collect waste instead of getting rid of it.
It affects the structure and function of cells and ultimately causes their death.
The disease leads to seizures, vision loss and problems with thinking and movement.
Symptoms get worse over time and children diagnosed with it tend to die early.
There are 14 known types of Batten disease grouped into categories based on the age when symptoms begin.
The first signs and symptoms of Batten disease include:
- Vision loss
- Personality and behavioural changes
- Clumsiness and issues with coordination, balance and movement
- Seizures
Other symptoms may include:
- Difficulty with thinking and reasoning
- Speech and language problems, such speech delay, stuttering and repeating words or phrases
- Tremors, tics, muscle spasms and twitches
- Memory loss (dementia)
- Hallucinations and episodes of psychosis
- Sleep disturbances
- Muscle tightness
- Arm and leg weakness
- Heart problems, such as arrhythmia (in teens and young adults)
Batten disease that begins between the ages of six months and two to four years typically progresses rapidly and ends in death aged eight to 12.
If it is diagnosed aged five to eight, patients usually die in their late teens or early 20s.
Adults can also develop a form of the condition, which generally begins before the age of 40. Although age of death is variable, this type does shorten life expectancy.
Overall, batten disease is very rare, affecting an estimated 100 to 150 people in the UK, according to the University of Edinburgh.
Source: Cleveland Clinic and the Brain Foundation
It was a ‘run only’ event for children aged three to 15 in Tenby, Pembrokeshire, and the organisers confirmed Isaac could take part on his walker.
When we told Isaac, he was so excited, throwing his arms in the air.
But the race was nine months away, and it was touch and go whether he’d be able to take part.
Just a month before the big day, he needed an operation to fit a feeding tube, but remarkably, he recovered in time.
‘A flood of happy tears’
On race day, in September 2024, Eva, Adrian, and my in-laws all watched from the sidelines as I took my place next to Isaac at the start of the 500m course.
We’d decorated his walker with posters that read: “I can’t see you! Please cheer for me!”
The crowd clapped and cheered, and chanted “go Isaac” as he pushed his walker along.
He didn’t stop beaming from start to finish. It took him just 10 minutes, and when we crossed the finish line, the place erupted in applause.
When the organisers gave him his medal, I was in a flood of happy tears.
Isaac is now 10 and a ‘happy little boy’[/caption]
Nine months on, Isaac is now 10 and a happy little boy.
He loves his big sister, school, friends, going swimming and being out on his trike.
His vision has now completely gone, and we don’t know what the future holds, but I’m so grateful that the Brineura medication gives him the quality of life he still enjoys.
We only learnt after his diagnosis that learning difficulties alongside seizures are a major red flag for Batten disease, so now I’m doing my best to raise awareness.
I always urge people to slow down and really appreciate life because my brave boy’s battle has opened my eyes to what truly matters.
Aimee has started a podcast for those caring for children with additional needs called Raising the Extraordinary, which can be found on Spotify and Apple Podcasts.
You can also follow Isaac on Instagram (@isaac_fighting_battens_disease).
To find out more about batten disease, visit bdfa-uk.org.uk.