Our baby girl was born with her brain poking through her head – and was given minutes to live
A BABY born with part of her brain protruding through her forehead has defied doctors expectations after she was given just minutes to live.
Medics warned that Karlie Toland would most likely be stillborn after spotting her rare condition during her mother’s 20-week-scan.
But determined mum Gemma-Sarah McCusker, from Lurgan, co Down, vowed she’d never give up on her unborn child.
Karlie was born with an encephalocele – meaning part of her brain was poking through a hole in her skull – and her terrified parents were again warned she’d only live a minutes.
But against the odds, Karlie survived and when she was three-weeks-old she underwent a four-and-a-half-hour operation to cut away the protruding part of her brain and close the hole between her eyes.
The little girl still has complex medical needs – she also has a condition called Alobar Holoprosencephaly which means her brain isn’t divided into two different hemispheres.
But proud Gemma-Sarah, 27, reckons her three-year-old daughter is nothing short of a miracle.
“Karlie has defied every expectation so far,” she says.
“Every prediction for her has been wrong. If my daughter won’t give up, then I’ll never stop fighting for her.”
Gemma-Sarah and Karlie’s father, Kyle Toland, had been so excited to be first-time parents.
But when they went for their 20-week scan at Craigavon Area Hospital in summer 2016 their worlds were turned upside down.
“I was looking forward to finding out the baby’s sex, but the sonographer went really quiet and then went to fetch a doctor,” Gemma-Sarah remembers.
What is Alobar Holoprosencephaly?
Holoprosencephaly is a rare developmental brain defect that affects around 1 in 20,000 kids.
It occurs when the brain fails to divide properly into the right and left hemispheres.
There are 4 types of holoprosencephaly, distinguished by severity.
From most to least severe, the 4 types are alobar, semi-lobar, lobar and middle interhemispheric variant.
What are the signs?
The most severe forms of holoprosencephaly cause seizures and, in some cases, severe mental difficulties.
Typical facial defects involve the eyes, nose and upper lip.
There is no standard course of treatment for holoprosencephaly - doctors will treat an individual's various symptoms and support the patient as best they can.
The prognosis for individuals with the disorder depends on the severity of the brain and facial deformities.
“The doctor told us we were having a little girl, but they’d found a large mass on the front of our baby’s face. It also looked like her brain was severely deformed.
“We were advised to think about a termination. Our baby had no chance of survival.
“Tears were pouring down my face and I was shaking my head. No way. No. Absolutely not.
"I couldn’t get words out so I just carried on shaking my head. There was no way I was giving up on her.”
There was no mistaking her problem. Part of her brain was literally sticking out of her forehead, between her eyes. It looked like a small purple ball
Gemma-Sarah
Medics told Gemma-Sarah her baby would most likely die in her womb.
“They told us to go home, rest, and come back to hospital when I felt her stop kicking,” she recalls.
But her pregnancy continued until November 3, 2016, when at 36-weeks her waters broke.
“The looks on the nurses’ faces as they settled us into a delivery room said it all,” says Gemma-Sarah.
“Our baby would most likely be stillborn and everyone knew it.
“We were warned that if she was alive, she’d only live for 10-15 minutes – just long enough for a quick cuddle.”
But again baby Karlie defied the odds, letting out a healthy cry as she came into the world.
Gemma-Sarah assumed she was hearing a child in the neighbouring bay until her baby was placed in her arms.
“She was so beautiful. I hadn’t known what to expect. I’d been terrified she would look horribly deformed," she recalled.
I’d been terrified she would look horribly deformed
Gemma-Sarah
“But she was gorgeous, with her pretty wee eyelashes, rosy cheeks and ten tiny fingers.
“There was no mistaking her problem though. Part of her brain was literally sticking out of her forehead, between her eyes.
"It looked like a small purple ball. I told Kyle it was her wee unicorn."
Karlie was placed in an incubator by Gemma-Sarah’s bed and the family were told to say their goodbyes.
But instead of slipping away the baby began snuffling for a drink.
She survived her first night, was fitted with a feeding tube and began filling her nappies.
Uncertain future
Karlie was moved to neonatal ICU and Gemma-Sarah demanded a second opinion on her daughter’s future.
Dr Mano Shanmuganathan, a surgeon in Belfast, heard about Karlie’s case and sent scans of her brain to experts at Alder Hey Children’s Hospital in Liverpool.
They came up with a plan to cut away the portion of Karlie’s brain that was protruding, but there was no way of knowing what damage that would do.
Gemma-Sarah decided to give her daughter the chance.
“I’ll never forget the moment when the porters wheeled her away down a corridor at Belfast’s Royal Victoria Hospital,” she says.
“I had no idea if I’d ever see her again.”
Once more Karlie battled through, but the surgery left her with a scar running between her eyes but she made an incredible recovery.
She has since diagnosed with other health problems, including cerebral palsy, microcephaly, and 22q deletion syndrome.
She also has an ultra-rare condition called Alobar Holoprosencephaly, which means her brain is fused across the middle and hasn’t divided into the usual left and right hemispheres.
Doctors warned she could be profoundly disabled, and would be unlikely to ever walk and talk. But of course Karlie has defied all expectations.
First steps
Now aged three, she is taking her first steps and learning to talk and her favourite things are Peppa Pig and cheesy pasta “noo-noos”.
She’s even become a big sister – Gemma-Sarah had a second daughter, Sáorfhláith-Jade, last August.
“She’s bright as a button,” smiles Gemma-Sarah. “She’s a really fast learner.
“She still has a wee red scar on her face from the operation, but we think she’s absolutely gorgeous, with her blonde ringlets and smile that lights up the room.”
Children born with Alobar Holoprosencephaly rarely make it to adulthood and there’s a chance Karlie could start having seizures.
Most read in Fabulous
Determined to continue fighting for her daughter, Gemma-Sarah is now planning to attend an international conference on Holoprosencephaly in the USA in summer 2022.
READ MORE SUN STORIES
“My dream is to meet other families with kids with the same condition, and hopefully get Karlie seen by the world’s leading experts,” she says.
“Karlie’s our sunny wee miracle and she’s not done yet!”