A COUPLE have revealed their agony after being told their baby boy has just months to live – and their unborn daughter could suffer the same fate.
Emma Prestage, 29, and Scott Carney, 33, were given the heartbreaking news last month that 13-month-old Jace may not live past the age of two.
The baby has been diagnosed with extremely rare and incurable genetic condition called Krabbe disease.
The condition, which affects just 1 in 100,000 births, destroys the protective coating of nerve cells in the brain and nervous system.
In a second devastating blow, Emma and Scott are now facing an agonising wait to find out if their unborn daughter carries the same gene.
The couple, from Manchester, are now trying to raise awareness of the disease in the hope Jace’s memory will live on after he’s gone.
Emma’s aunt Lynsey Sutton told MEN: “There is nothing they can do for him now other than make him comfortable – it’s just the cruellest thing ever.
“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.”
She said Jace had become a “bit poorly” when he was around nine months old but doctors dismissed his symptoms as an ear infection.
He underwent further tests and a brain scan when he suddenly stopped being able to crawl and sit up.
Around three weeks ago, he stopped feeding and the couple were given the devastating news he had Krabbe.
According to the NHS, most symptoms develop at around six months old with most patients tragically dying by the age of two.
What is Krabbe Disease?
Krabbe Disease is an incredibly rare inherited condition that affects just 1 in 100,000 births.
It destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system causing severe degeneration of mental and motor skills.
Symptoms don’t begin to appear until three and six months of age.
- Limb stiffness
- Feeding difficulties
- Slowing of mental and motor development
- Clenched fists
The disease is generally fatal in infants before the age of two.
If the disease develops in older children and adults, the lifespan is longer and symptoms have a slower progression.
There is no cure and treatment is focused on palliative care. There have been some mild cases that have benefited from bone marrow transplantation when caught early.
Source: Krabbe UK
Lynsey said: “Wythenshawe Hospital didn’t know much about it because they hadn’t seen a case in over 20 years.
“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 the rarity of the disease, Emma and Scott are both carriers.
There is a one in four chance their unborn daughter will have the condition and a 50 per cent chance she will be a carrier.
Lynsey has praised Emma for being an “absolute soldier” during the heartbreaking time.
She added: “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 are now hoping to raise awareness of the disease and have organised a sponsored walk at Sale Water Park this weekend.
A GoFundMe page has also been launched to help Emma and Scott make memories with Jace.
Lynsey said: “For Emma and Scott it is just making sure it’s known about.
“Jace is the smiliest little boy. Throughout all of this and everything he’s been through his smile can still light up a room.”