I almost died from condition that advance could help spot in womb
WHEN I was born my food pipe was not connected to my stomach, meaning that instead of swallowing food, I inhaled it.
Oesophageal atresia (OA) is a rare defect affecting around one in 3,500 births that is usually not diagnosed until after delivery, when the baby cannot feed.
At just a few days old I needed an emergency operation under general anaesthetic to lengthen my oesophagus and reconnect it to my stomach, a procedure that had only been pioneered a few decades before I was born.
I still have a large scar on my back under my shoulder blade.
The breakthrough from University College London (UCL) and Great Ormond Street offers hope that congenital conditions like mine could be spotted earlier, helping parents avoid the pain of seeing their child struggling after birth for unknown reasons.
Despite advances in ultrasound technology, 80 per cent of cases are still diagnosed after birth and the longer it takes to pick up, the more chance there is that the baby will die.
Getting a diagnosis earlier can also help families prepare. Growing up with OA is not easy and I lost count of the number of operations I needed to stretch my oesophagus as I grew, or
hospital dashes to remove food that had got stuck.
The oesophagus is not just a tube but also a muscle that squeezes food down as you swallow, and scar tissue hampers that ability.
Meal times as a child were a constant source of stress for all the family, with my dad regularly being called on to hold me upside down by my ankles and give me a good shake to loosen a clump of rice or piece of meat that had become wedged in my throat.
Regular visits to the specialist would require being fed thick and chalky barium drinks and put under an X-ray machine to check food was moving correctly.
Over the years I have learnt how to manage the condition, which largely relies on cutting food up into tiny childlike pieces, taking small bites and drinking copious amounts of water with every meal. The last time I had food stuck in my oesophagus was at university when I ate a particularly fatty piece of beef at a barbecue and it lodged solidly for 48 hours.
With no sign of it shifting I took myself off to A&E at the Royal Victoria Infirmary in Newcastle where I was immediately put on a drip and sent
to a specialist ear, nose and throat clinic.
As we drove past the Town Moor, the ambulance driver swerved to avoid revellers leaving the annual “Hoppings” funfair, mounted the kerb, and jolted the piece of beef free. It meant I avoided undergoing yet another operation.
Thankfully, the future now looks brighter for children born with OA. In 2018, scientists at Cincinnati Children’s Centre for Stem Cell and Organoid Medicine grew a human oesophagus in the laboratory from stem cells, opening the door to transplants.
Perhaps if babies can be diagnosed in the womb, then it may be possible to start growing a replacement oesophagus before they are even born and a lifetime of difficulties could be avoided.
It would certainly make a diagnosis of OA less difficult to swallow.