Family’s agony as baby given months to live and unborn sister could share same fate
A couple are facing heartbreak after being told their ‘smiley’ little baby boy has just months to live – and their unborn daughter could face the same fate.
Emma Prestage, 29, and Scott Carney, 33, received the devastating news last month that their 13-month-old son Jace does not have long to live.
Doctors told the shocked parents their little boy has an extremely rare and incurable genetic condition called Krabbe disease.
The conditions is thought to affect just 1 in 100,000 births, and comes with a heartbreakingly low life expectancy.
It is likely that Jace will not survive past the age of two, reports the Manchester Evening News.
Emma and Scott, from Northenden, Greater Manchester, are now 30 weeks pregnant with their second child – a baby girl.
The couple now face an agonising wait to find out if their unborn daughter carries the same rare gene, and whether she will be born with the condition.
For Jace, nothing can be done by doctors or his family, apart from making him as comfortable as possible.
His parents want to raise awareness of the disease, in the hope that when little Jace is no longer with them, that his memory lives on.
Emma’s auntie, Lynsey Sutton, said the whole family have been left heartbroken by Jace’s diagnosis.
“When he was around nine months old he was a bit poorly like any normal child,” Lynsey said.
“At first, doctors thought it was an ear infection.
“But then he stopped sitting up and wasn’t able to crawl so Emma took him to A&E and they did a few tests.
“The doctors at the hospital thought it was something but didn’t know what.”
Jace had to undergo a brain scan and was then told to return for further tests to be carried out.
Around three weeks ago, Emma had to take him into hospital again, as he had stopped feeding over that weekend.
By the following Thursday, Jace had been diagnosed with Krabbe disease.
The extremely rare genetic disease destroys the protective coating of nerve cells in the brain and throughout the nervous system.
According to the NHS, in most cases signs and symptoms develop from around six months of age, with the disease usually taking sufferers’ lives by the time they are just two years old.
“Wythenshawe Hospital didn’t know much about it because they hadn’t seen a case in over 20 years,” Lynsey said.
“There are only four cases in the UK of children that have it and are still alive.
“It is so rare. Even when you look on the website there is barely anything about it.”
Despite there being just a one in 100,000 chance of carrying the gene, both Emma and her partner Scott are carriers.
The couple understand that there is a one in four chance that their unborn daughter will have the condition, and a 50 per cent chance she will be a carrier.
Sadly, even if their daughter is born without the gene – time is running out for Jace.
“There is nothing they can do for him now other than make him comfortable – it’s just the cruellest thing ever,” Lynsey said.
“He is unable to move his arms and legs and he can’t swallow. A lot of children go blind or deaf. The whole body just shuts down.”
Jace’s family say the only blessing is that he is too young to understand what is happening to him.
But for his parents, and wider family, the diagnosis has been devastating.
“Emma is an absolute solider, she has pulled it together for everyone else,” added Lynsey.
“She is coping as well as she can whilst being 30 weeks pregnant with a child that could potentially have Krabbe.
“The whole family is feeling it because we are all so close.
“You kind of feel hopeless because there is nothing we can really do.”
The family want to raise awareness of the disease, as well as ensuring Jace’s legacy lives on.
A sponsored walk at Sale Water Park has been organised for this weekend, and a GoFundMe page has been set up to help Emma and Scott make memories with Jace.
Lynsey said: “Jace is the smiliest little boy. Throughout all of this and everything he’s been through his smile can still light up a room.”