A mum said no after she was offered an abortion after discovering her unborn daughter had a rare brain condition and abnormality. Now, the family is now celebrating her incredible recovery after the tot underwent major surgery on her oesophagus at just a few hours old.
Marie Stockdale, 35, a dinner lady from Penrith, Cumbria, was delighted to be expecting twin daughters with her partner, 48-year-old HGV driver Paul Kipling. But their excitement soon turned to frantic worry.
While Mila was healthy in the womb, doctors found that her twin Ava had a rare brain condition and an abnormality where her oesophagus was not attached correctly, which would likely need surgery after being born. Marie tuned down a termination to give Ava a “chance to fight” - when the twins were born in May 2022 Ava underwent emergency surgery to correct her oesophagus.
READ MORE: Dad at risk of losing sight as eyelid swelled to ‘size of cherry tomato’ after devastating diagnosis
The twins are now eight-and-a-half months old and, despite a tumultuous first few weeks, feeding through a tube and continued hospital treatment every two months, Ava has come on leaps and bounds. “It was terrifying to watch my newborn baby being whisked away for major surgery,” Marie said.
“Ava went through a lot in the first few weeks of her life so to see her now, getting stronger each day, is wonderful.”
It was not until Marie’s 20-week scan that she discovered there were complications with her pregnancy. Doctors found that Ava had a lot more amniotic fluid surrounding her body than Mila.
They drained some of the fluid while the girls were still in the womb, but it continued to build back up, confirming their diagnosis that Ava had oesophageal atresia and tracheo-oesophageal fistula as she was not swallowing the fluid. These conditions cause an abnormality where the oesophagus, the tube that connects the mouth to the stomach, is not attached correctly, ending in a pouch further up her body.
Ava was also diagnosed with a brain condition called rhombencephalosynapsis, which is a rare abnormality of the cerebellum, has varying degrees of severity and can cause other disorders such as cerebral palsy. “Because the condition is so rare, doctors had no idea how severely it would affect her, and I was offered a termination,” Marie said.
“It was never an option though, I had to give her a chance to fight.” Marie had a caesarean booked for May 23, 2022, when her waters broke the night before.
Luckily, Marie was already staying near her hospital in Newcastle for the week prior so doctors could monitor her preeclampsia, a condition that can cause babies to be born prematurely or not grow as expected. Taken to theatre for an emergency caesarean, Marie was put under anaesthetic and came round in a hospital room six hours later.
She said: “Paul had been able to spend time with Mila, while Ava had been taken to a special baby unit and, once I’d come round, they took me through to meet her.”
She added: “We had spent the weeks leading up to the birth trying to come to terms with what laid ahead for our daughter after we’d found out about her condition, but nothing could have prepared us for when we saw her tiny body on a ventilator, covered in tubes and wires. It was very tough for us to see her like that.”
Ava went through assessments and doctors determined that it was best for her to have surgery that same day. At less than a day old, Marie and Paul said their goodbyes as Ava was whisked away for surgery.
During the procedure, surgeons closed the gap between Ava’s oesophagus and windpipe before sewing together the upper and lower parts of the oesophagus. The surgery was a success and Ava was taken back to the special baby care unit where she was closely monitored during her recovery.
“There were a few complications after Ava’s surgery, they found that both of her vocal cords were paralysed but were unsure how this had happened,” Marie added. “It could have been because of the effects from the anaesthetic, from the surgery itself or potentially part of her brain condition but it meant that Ava was unable to cry or make any noise for a while, but as she recovered, she started making little sounds as her vocal cords started to work again.
“She was soon letting us know she was there, or when she needed something.”
Just when Marie hoped Ava was getting better, she had a setback, developing tracheomalacia, which occurs when the cartilage in the windpipe, or trachea, has not developed properly and caused Ava breathing difficulties where she would turn blue and need assistance from an oxygen machine.
At five weeks old, the tot underwent her second major surgery, to lift her aorta and fix it to the sternum so she could breathe correctly. “Mila and I had been discharged but thanks to the support of The Sick Children’s Trust, we were able to stay with Paul at Crawford House, just next door to where Ava was,” she said.
“Being at home, together as a family, is just wonderful.”
Since being discharged, Ava has needed to return to hospital every two months to undergo oesophagus dilation procedures due to the scar tissue narrowing her throat. Surgeons are hopeful that Ava’s oesophagus will get stronger and eventually stay open without treatment.
Marie says her little girl has come on leaps and bounds since her tumultuous first few days. “She’s doing really well, the twins are eight and a half months old and, while Ava is slightly behind her sister at hitting milestones, she is starting to do more things for herself,” said Marie.
“Doctors are monitoring her brain condition but so far, it seems to be mild.”
Ava is currently being tube fed as she has no sucking reflex and has regular physiotherapy to help her with head control and general movement, but her surgeons are pleased with her progress.
“We love seeing her get stronger every day, being with her twin sister,” Marie added. They’re both little characters, Mila is very chilled out and patient and Ava is really happy and smiley.”
Since Ava’s recovery, Marie and Paul have started raising money for The Sick Children’s Trust. For the twins’ christening, the couple raised £400 in support of the charity.
“Without The Sick Children’s Trust, we would have gotten into financial difficulty with the expense of travelling and staying near the hospital, it would have been horrendous and, without the charity, we would have been really stuck,” Marie said. “What The Sick Children’s Trust does is truly amazing for families, and we can never thank them enough for their support.”
For more information, visit: www.sickchildrenstrust.org
Read more of today's top stories here
READ NEXT:
