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A couple whose son was born without a diaphragm are reeling after doctors revealed their unborn second child will have the same severe condition - a one in 50,000 chance. Neil and Amy Rubenstein's son Aiden, now three, was born with a severe case of Congenital Diaphragmatic Hernia (CDH).
The condition usually causes a hole to develop in the baby’s diaphragm - but Aiden was born with no diaphragm at all and had to have a new one made out of sports clothes fabric.
Neil and Amy Rubenstein have been told that their unborn child has the same diaphragm abnormality that their son Aiden, three, suffers from. The condition is not thought to be genetic
The family, from Chicago in Illinois, U.S., were shocked when doctors diagnosed their unborn second child with the same condition - just 20 weeks into the pregnancy.
‘It was like a bomb that hit us. Neither of us could speak,’ said Mrs Rubenstein.
‘I had to be peeled off the examination table by Neil. We were hysterical.’
Aiden has been undergoing treatment at the Lurie Children's Hospital in Chicago under the care of paediatric surgeon Dr Marieta Reynolds.
She said: ‘In my 30 years of working with CDH patients, I have never seen a family with two children with this same condition.’
At present, no-one knows what causes CDH, which kills more than half of its sufferers.
Aidan was born without a diaphragm because he has a severe case of Congenital Diaphragmatic Hernia. The condition normally causes children to be born with a hole in their diaphragm
The couple learned during Mrs Rubenstein's 20 week scan that their second child has the same condition. They say they were so shocked that they could not speak
Patients must undergo surgery that closes the hole by either stitching together the muscle or using Gore-Tex fabric, which is used in waterproof clothing.
But as a result, they suffer with pulmonary hypertension – high blood pressure in the blood vessels that supply the lungs - and underdeveloped lungs, meaning they find it difficult to breathe independently.
There is no suggestion CDH is genetic, which makes the Rubenstein's diagnosis all the more shocking.
Aiden's surgeon, Marieta Reynolds, said: 'In my 30 years of working with CDH patients, I have never seen a family with two children with this same condition'
Aiden had a diaphragm created out of Gore-Tex - a material that is usually used for making sports clothing
Mrs Rubenstein spoke about when the baby was diagnosed. She said: 'It was like a bomb that hit us. Neither of us could speak. I had to be peeled off the examination table by Neil. We were hysterical'
They had already undergone five years of fertility treatments in an attempt to avoid passing on a gene that Mrs Rubenstein carries for neurofibromatosis – a genetic condition that causes tumours to grow along the nerves.
The fertility treatments did not work and they conceived Aidan naturally - but the neurofibromatosis gene was not passed on.
Today, Aiden has all the appearance of a healthy child, but the family live in constant fear that his diaphragm could rupture or that he could twist his intestine.
Mr Rubenstein said: ‘When you see how well Aidan is doing now you can't imagine how touch-and-go it was at one time, how sick he was.
Mr and Mrs Rubenstein say they live in fear of Aiden's diaphragm rupturing. They say that he is now just like any other child other than for his scar
Before Aiden (pictured in hospital as a baby) was conceived naturally, his parents had five years of failed fertility treatments in an attempt to produce a child without a genetic condition that Mrs Rubenstein carries. Luckily, he does not have it
Mr and Mrs Rubenstein say they will approach their new baby's illness with the same optimism that helped them cope with Aiden's. Image shows an ultrasound scan of the baby
‘If you see him, apart from his scar, you wouldn't think that there was ever anything wrong with him.’
The couple are determined to raise awareness of the condition, which affects as many children as cystic fibrosis.
So much so, that they have donated two of their frozen embryos to CDH research in the hope of finding the cause of the condition.
And while they find themselves facing the same heart-breaking fight again, they have vowed to face it with the same optimism and vigour that has given Aiden a second chance at life.
WHAT IS CONGENITAL DIAPHRAGMATIC HERNIA?
CDH is a hole in the diaphragm that allows organs from the abdomen to move into the chest.
This prevents the normal development of the lungs meaning the baby will struggle to breathe when it is born.
In severe cases, no diaphragm is present at all.
CDH affects about one in every 2,500 babies.
It is often diagnosed during a routine pregnancy ultrasound - otherwise it will be picked up when the baby is born and struggles to breathe.
The outlook for babies with CDH is increasingly positive with new surgical techniques being developed.
It is not known what causes CDH.
It can lead to complications including chronic lung disease, failure to thrive and developmental delays.
Babies with the condition require surgery to repair the hole and return the organs to the abdominal cavity.
This prevents the normal development of the lungs meaning the baby will struggle to breathe when it is born.
In severe cases, no diaphragm is present at all.
CDH affects about one in every 2,500 babies.
It is often diagnosed during a routine pregnancy ultrasound - otherwise it will be picked up when the baby is born and struggles to breathe.
The outlook for babies with CDH is increasingly positive with new surgical techniques being developed.
It is not known what causes CDH.
It can lead to complications including chronic lung disease, failure to thrive and developmental delays.
Babies with the condition require surgery to repair the hole and return the organs to the abdominal cavity.
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