Parents fight to save baby with rare genetic disorder

The parents of a baby whose thought to be the only child with a rare chromosome disorder in Northern Ireland are planning to travel to England for a second medical opinion on their treatment options.

Bangor infant Jorja Emerson is 17 months old and has 1q43q44 deletion syndrome, a rare chromosome disorder that has affected her development.

In November last year she started having seizures and now her parents Robbie and Carly have been told to prepare for the worst.

They have been left with many unanswered questions.

Carly told UTV: “I thought we’re getting somewhere, she started rolling over, she started catching her feet and now with all her seizures and this last week, I just feel totally heartbroken.

“It’s horrible, it just feels like we’re lost, we’re on our own. She’d be having prolonged seizures, this is her second time in intensive care, she had a prolonged seizure on the 11 July and it lasted 17 hours. Unfortunately we got worse news, we were told that our daughter’s brain is decaying.”

Jorja has been moved out of intensive care at the Royal Victoria Hospital in Belfast, and now her parents hope to get a second opinion at a private neurology clinic in London.

“You have to question things and go down every road, and if that leads you to the same road, that’s a diagnosis. I don’t think we can just take the first prognosis,” Robbie explained.

Carly added: “I just want answers for my baby girl, I want to give her the best life that we can as parents no matter what the outcome is.”

In a statement the Belfast Health and Social Care Trust says while it cannot comment on individual cases, it continues to do everything possible to provide support for the family at what is a very worrying time for them.

Robbie continued: “We think Jorja is the only child in Ireland with this condition. We just want Jorja to have the life that she deserves like everybody else, like every other child. We just want the answers and need to know what it is, what’s wrong with Jorja and how we can treat it and go forward.”

While Jorja's condition is very complex the family hope by getting her to England there's a fighting chance she might be able to make a recovery.