Renmore family appeal for centralised tests to spare trauma of child deaths
Published:
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Author: Denise McNamara
~ 3 minutes read
From this week's Galway City Tribune
A Galway family has pleaded with the Government to set up a centralised testing laboratory to spare others their trauma following two child deaths and multiple miscarriages after tests failed to pick up a genetic condition.
Róisín Costello and Ross Furey are sharing their heartbreaking story to campaign for a similar regime that operates in Northern Ireland and the UK which would have picked up that they had what is called a 22q11 pathogenic deletion.
They had their first miscarriage in 2019 after moving into their dream home in Renmore. When Róisín got pregnant with Ross Junior, they thought their prayers had been answered but learned shortly afterward that he had a fatal foetal abnormality.
He was delivered at 36 weeks but died 30 minutes after he was born.
The pathologist sent off samples for testing in October 2020 and they all came back clear four months later.
Because the autopsy found the baby had a hole in his heart and had some kidney problems, the family asked for another test investigating his kidneys as there were some kidney issues on both sides of the family.
That test showed he had a small 22q deletion, a genetic conditon. Parental tests were then sent to a different laboratory but without the probands test report — indicating the family history of Ross Junior — and the tests came back normal, reassuring the couple that they could keep trying for a baby.
On their eighth pregnancy the couple had Reilly, who was born with the rare chromosomal disorder Trisomy +9 and died.
After the pain of burying their two sons, Róisín and Ross decided to give it one more try and got pregnant with Oisín. But at 18 weeks they found out that he had something wrong with his kidney.
“We were petrified, thinking are we planning a third funeral?” recalls Róisín.
Oisin was born in June 2023 but had significant health problems, similar to those which Ross Junior had been born with. He was confirmed to have 22q Deletion Syndrome. Most children with 22q have heart, immune, learning, speech and behavioural difficulties.
A neonatologist asked the family if she could start afresh and send off parental samples again and this time they were finally given a diagnosis of 22q, which had been missed in 2021.
“I was shook to the core. The hospital had told us consistently it’s wasn’t 22q because of the tests. The labs have failed us massively and it was not our fault.
Pictured: Róisín Costello and Ross Furey with their 16-month-old son Oisín. Photo: Brian Harding.
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