Mansfield couple discover they carry killer NKH gene after newborn's death

Niall and Shannon Quinn, with son Mac. Credit: Family handout

A couple say they are living a "nightmare" after being told the extremely rare condition which claimed the life of their newborn baby may prevent them from ever having children.

Shannon and Niall Quinn's son Mac died at two weeks-old after being diagnosed with nonketotic hyperglycinemia (NKH), a genetic disorder affecting around one in 76,000 babies.

The couple, from Mansfield, were dealt a further blow after finding out they were both carriers of NKH and may not be able to have children again without using IVF.

Mrs Quinn, 30, said: "Every day I think 'it's a nightmare, I'm going to wake up'.

"He's been snatched away, it's so cruel."

Mac was born at King's Mill Hospital on 5 May last year. The family were discharged, but Mac was struggling to feed and was not crying normally.

Mr Quinn said: "When we brought him home he wasn't really responding to anything, we thought that was normal as he'd been in the womb for nine months."

It was only when they returned for a check-up the next day that doctors realised Mac's condition was deteriorating.

He was diagnosed with NKH, which affects a patient's ability to break down the amino acid glycine, resulting in its accumulation throughout the body. NKH is unsurvivable.

Mr and Mrs Quinn were told Mac was unlikely to survive beyond a week and they should take the humane decision to withdraw life support.

Mr Quinn, 29, said: "It was the hardest thing I've ever done in my life. You think it'll be over quick. Five minutes went by, then an hour went by, 12 hours went by and you start to believe he's pulling through and think it's a miracle.

"It hits you deep and it hits you hard. When you get told that everything crashes down."

Mac died on 19 May last year, two days after his ventilation was withdrawn.

The couple say they are concerned Mac was not given a reflex test before they were discharged from hospital.

Mrs Quinn said: "He could've died at home and it been put down to cot death. We might've never found out we had this condition.

Mac was born with a rare genetic disorder

"A reflex check is a two-second job, I think every baby should be getting these checks before they are sent home. It wouldn't have saved him but it was so cruel, they said everything's okay you can go home so we were going home thinking we can start a new life and taking photos."

Following Mac's death Mr Quinn decided to raise money for the wards at KMH and the Queens Medical Centre, which looked after him.

He will take on the Three Peaks challenge - climbing Snowdon, Ben Nevis and Scafell Pike within 24 hours - along with his friend and brother-in-law to coincide with the first anniversary of Mac's death.

Mrs Quinn described her son as "absolutely beautiful, just perfect in every way." and that they both want to "give something."

A spokesperson for Sherwood Forest Hospitals Trust said: “We are sorry for the pain that Mac’s family understandably feel following their untimely loss and we are so incredibly grateful for the decision they have made to ensure that his legacy lives on through the funds they are raising for our neonatal and children’s wards who cared for him.

“We would like to thank Mac’s family for this incredible gesture that will ensure that babies like Mac and their families can continue to receive the best possible care here at Sherwood.”

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