Hope from across the ocean
I was terrified for my baby, till a stranger gave me strength
Gazing at my newborn Isla, I wanted to stroke her cheek, revel in the first days. I’d imagined this happy moment all through my perfect pregnancy. Instead,
I was filled with worry.
It was early October 2018, and I’d only been a mum for five days.
But I just knew. Something was wrong with my baby.
I’d noticed Isla’s hands twitching soon after she was born, jerky and uncontrollable.
Her eyes would roll back in her head, too.
Me and my then-partner Michael took her to hospital but the doctors couldn’t find anything wrong.
Isla was booked to have an EEG to monitor activity in her brain, but the appointment wouldn’t be for another month.
‘We can’t wait that long,’ I told Michael.
We took her to A&E at Alder Hey Children’s Hospital, which luckily had an EEG cancellation the following week, and booked Isla in.
Specialists confirmed that Isla’s jerky movements were mini seizures. Each one potentially causing her brain damage.
But they’d no idea what was causing them.
I was devastated and worried sick.
For seven weeks, Isla was kept in for tests. I didn’t leave her side.
It broke my heart every time she screamed when a nurse took blood.
But, finally, the doctors had news.
‘Isla has nonketotic hyperglycinemia,’ the consultant explained.
Known as NKH, it is
My girl might not even reach her first birthday
a rare genetic condition, where a defect in Isla’s DNA means her body is unable to break down and process the amino acid glycine.
It is life-threatening and can lead to low muscle tone, lethargy, seizures, comas, and apnoea.
The doctors warned Isla might even need a ventilator in the future to stay alive.
Only 15 UK children had the condition – some mild, some severe, with life expectancy of just a year. I burst into tears.
My baby might not even live to celebrate her first birthday. How could I get my head around that?
There’s no cure, but the doctors could try to control the seizures with medication.
Thankfully, Isla responded well and, a week later, we were sent home with a cocktail of drugs.
Isla needed 18 syringes of meds every day. Overnight, I became her nurse, as well as her mum, spent any spare time researching NKH.
And I found a possible answer to our problems – gene therapy.
Using this, Isla could have an enzyme placed in her liver to make up for what her body was unable to do.
But it wasn’t available on the NHS and cost £5m privately. It was a huge sum, so I set up the Isla Rose Foundation to raise cash.
My life was consumed with Isla, and NKH.
I gave up my personaltrainer job – and, sadly, my relationship with Michael broke down.
Then, just before Isla turned 1, I found a Facebook group for parents whose children have NKH.
Thanks to the complex nature of the condition, most children have slightly different symptoms.
But there was one, Eric, who had the exact same flaw in his genetic code as Isla. Eric lived in Rhode Island, US, and incredibly, was 20 years old!
Essentially, he was Isla’s NKH twin!
I immediately messaged his mum Dorrie: It’s great to hear about Eric.
The more she told me about Eric as a baby, the more I realised his experience sounded much like Isla’s.
Perhaps there was a future for us after all.
Dorrie told me how Eric loved riding his bicycle every day, come rain or shine. He also played golf, basketball, and belonged to a weekly bowling league.
His life sounded so rich and full.
Between Dorrie and the Facebook group, I now feel much less alone.
Sadly, COVID-19 has paused our fundraising, but I’m determined to get Isla the gene therapy, so she can live the life she deserves.
We think Isla, now 2, has the mild variant of NKH.
She doesn’t have seizures any more and, to look at her beaming face, you wouldn’t think there’s a thing wrong.
We’ve been shielding during the pandemic, as her immune system isn’t great, but spending time with my beautiful girl has been the silver lining.
Nothing will stop me fighting to keep her by my side for many, many years to come.
To donate, visit islarosefoundation.com.