A Glenrothes tot has been diagnosed with a rare genetic disorder after doctors first thought he was experiencing acid reflux.
Now aged 16 months, Asher’s diagnosis was a complete surprise for mum Ruth McGarrity, who first noticed what she thought were seizures when he was five weeks old.
Doctors originally said Asher was experiencing acid reflux, a common but usually harmless complaint in babies which can leave them arching their back or spitting up food.
Asher was given medicine for reflux but at a routine hip scan, one of the staff noticed the seizures and said something more serious was going on.
An appointment was arranged at the Royal Hospital for Sick Children in Edinburgh, where he underwent a raft of tests that eventually confirmed the seizures.
“They did blood tests which was the start of the genetic testing. It was the beginning of August 2020 that we got the test back that it was CDKL5,” Ruth added.
CDKL5 is rare genetic disorder that causes severe epilepsy as well as developmental delays in infants.
Seizures caused by CDKL5 are often drug-resistant and unable to be controlled by medication.
After Asher was diagnosed with the disorder, which can be worse in boys, Ruth and her husband Lee desperately worked to understand the condition.
Ruth, who also has a six-year-old daughter named Elodie, told The Courier: “He was in and out of hospital trying to get the right dose of medicine, it was really difficult.
“When we first left Edinburgh when he was around 12 weeks they said we’d get a number to phone for advice on the dose.
“We tried that and couldn’t get a hold of anybody, and Lee at one point had to sit in front of the entrance to the hospital so someone would tell him.”
The worried mum, who lives in Glenrothes, reached out to other parents with experience of the disorder and epilepsy.
She found out more about alternative therapies, including CBD oil, which has been linked to an improvement in some conditions where traditional medicines have proven unsuccessful.
“I heard about CBD oil in the news, and I started looking into it when I was Googling to find out what could help.
“I joined a group for children with epilepsy, and I felt like it was a route we should go down,” she explained.
Ruth got in touch with a local company that supplies CBD oil.
Although not licensed for medical use, CBD oil products are commonly used by many as an alternative medicine.
CBD oil success
After starting Asher on a low dose, Ruth said she noticed a difference in the number of seizures he was experiencing.
“We got started on the CBD oil which has to be spaced out from other medicines.
“Within weeks we noticed a reduction in his tonic seizures, we started it in May 2021 and by the end of June he had nine days of no seizures.
“That was the longest he had gone without a seizure since he was five weeks old.”
But a few months later Ruth started to notice new movements, which she explained were tell-tale signs of infantile spasms, a dangerous form of epilepsy that can cause brain damage.
Glenrothes tot experiences three seizures each day
Asher also has a symptom where his brain can’t process what his eyes can see.
His mum added: “He got put on steroids for the spasms but they didn’t do anything. He’s now classed as drug-resistant.”
Asher now experiences around three seizure episodes every day, with seizures each lasting around 10 seconds.
Ruth is currently planning to wean Asher off from his prescribed medicines in the hope she can increase the dose of the CBD oil and potentially reduce the seizures.
The family’s choice to follow an alternative route comes at a cost, both personal and financial.
Ruth explains: “We understand he might never be seizure-free, but it’s his quality of life we are focussed on.
“We’d rather he had seizures but not be drugged up, but it might be we come back to the medicines.
“It has been a learning curve, I’ve had to put a lot of trust in myself and Lee has had to put faith in me too.
“You have to take a lot of responsibility that we’re not doing what the doctors recommend. It’s all on us if it goes Pete Tong.”
You have to take a lot of responsibility that we’re not doing what the doctors recommend
Ruth McGarrity
The medicines also cost around £200 each month, a financial burden only likely to increase with Asher’s dose.
Ruth, who has given up work to care for Asher, has set up a crowdfunder to help fund his CBD oil and visits to a private physiotherapist.
Once the dedicated mum reaches her £5,000 target she has committed to shaving her hair off.
“I’m under no illusions Asher might end up in a wheelchair,” she said.
Crowdfunder
“I just want to say I’ve done my part and I’ve tried to give him the best chance of him reaching his full potential, whatever that is.
“I’ve had to leave my job, and Lee has gone self-employed so he has flexibility if we need him.
“Our finances have been flung in the air, and at least if we know Asher’s side of stuff is covered we won’t have the stress that we can’t afford his CBD oil until we get on our feet.”
