Baby born with her brain outside her head is a ‘little miracle’: Toddler defied the odds after being given just 20 minutes to live
- Karlie Toland is thought to be the only person with five rare conditions
- She was discharged from hospital but expected to die within a few days
- Four weeks later, she had a five-hour operation to repair her brain tissue
- Karlie can now crawl and eat on her own, and is expected to walk soon
- Her parents say her future is uncertain but she will continue to defy the odds
A toddler who was given just 20 minutes to live after being born with her brain outside her skull has made a miraculous recovery.
Karlie Toland, now 17 months, is thought to be the only person in the world to suffer from five rare conditions, including encephalocele, which caused her brain to develop on the outside of her head.
Defying the odds, Karlie was discharged from hospital, but medics still insisted she would die within days.
After four weeks, Karlie’s parents Gemma Mccusker, 24, and Kyle Toland, 20, took their daughter to Belfast’s Royal Hospital for Sick Children, where the youngster underwent a five-hour operation to repair her outside brain tissue.
Fully recovered, Karlie is now crawling and able to eat on her own, with her parents hoping she will take her first steps in the next few months.
Ms Mccusker, a full-time mother, said: ‘Looking at her now makes me so proud, she’s always smiling, laughing and happy, she’s such a little miracle.
‘We don’t know what the future holds for Karlie but we are sure she will continue to defy the odds.’
Karlie Toland was given just 20 minutes to live after being born with her brain outside her skull
Defying expectations, Karlie (pictured with her parents Gemma Mccusker and Kyle Toland), now 17 months, can crawl and eat by herself, and is expected to take her first steps shortly
At four week old Karlie underwent a five-hour operation to repair her outside brain tissue
WHAT IS ENCEPHALOCELE?
Encephalocele is a rare birth defect where the structure that forms the brain and spinal cord folds and closes.
This causes a sac-like protrustion of the brain and its covering membranes through an opening in the skull.
It affects around one in 12,200 babies born in the US every year. Its UK prevalence is unknown.
Encephalocele’s exact cause is unclear but may be a combination of genetic and environmental factors, such as insufficient vitamin D and folic acid during pregnancy.
Treatment involves surgery to place the protruding brain back into the skull and close the opening.
The patient may experience ongoing complications.
Source: Centers for Disease Control and Prevention
‘I was told my daughter would die within 20 minutes’
Speaking of her daughter’s birth, Ms Mccusker said: ‘I was told my daughter would die within 20 minutes.
‘I was heartbroken and although she had part of her brain outside of her skull, she looked perfect.
‘But she refused to give up and we knew she was strong enough to pull through despite everything we were told by doctors.
‘After being discharged from hospital we went home with Karlie and used bottles of sterile water at room temperature and cotton wabs to wipe away the brain fluid leaking from her skull.
‘We had been told Karlie would die in the next few days but she defied everyone and once we got a second opinion four weeks later, she had the operation she desperately needed.’
Ms Mccusker was told during her pregnancy her daughter would likely be born with deformities, but did not expect her brain to be outside her skull.
She said: ‘During my pregnancy I was told at my 20-week scan there was something abnormal on her head but we had no idea what it was until she was born.
‘I was told to prepare myself for missing limbs, her nose to be on her forehead and that she might not even have eyes.
‘But Karlie had none of those deformities and was born with all of the correct facial features and limbs.’
Karlie was discharged from hospital, but doctors said she would survive just a few days
Karlie, who was the length of a Coca-Cola bottle, had brain fluid leaking from her skull
Karlie’s parents claim she refused to give up and fought to live despite her deformity
Karlie had a life-saving operation after her parents sought out a second opinion
She is thought to be the only person in the world living with five rare conditions
‘Karlie is a miracle’
As well as encephalocele, Karlie also has cerebral palsy; an abnormal brain structure, called holoprosencephaly; a missing chromosone, known as 22 deletion syndrome; and microcephaly, which causes her head to be smaller than normal.
Although it is unclear how Karlie’s health conditions will affect her future, her family are confident she will continue to defy expectations.
Ms Mccusker added: ‘We’ve been told by doctors that Karlie is a miracle to be alive and she really is.
‘She has proven everyone wrong and even after her major operation in December 2016 she was only in hospital for 48 hours before coming home.
‘We couldn’t believe it and although no one expected her to progress as her brain doesn’t have the normal three structures, so far she is on par with other children her age.
‘The only thing she is delayed with is her walking but she can stand if I told her hand so I don’t think we’ll need to wait much longer.’
Karlie’s parents believe the only reason their daughter is alive is due to the work of Dr Mano Shanmuganathan, a neurosurgeon at Belfast’s Royal Hospital for Sick Children.
Ms Mccusker said: ‘We are so thankful to Dr Mano that he never gave up on our daughter.
‘His surgery saved her life and given us a future with Karlie.’
Ms Mccusker said the fully-recovered youngster is always smiling, laughing and happy
Although Karlie’s future is uncertain, her mother says she will continue to defy expectations
Karlie’s parents have thanked her surgeon for refusing to give up on their daughter
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