Meet Sadie

“She’s rare, she’s special, she’s unique, and I love her for that.”

Nobody knows what syndrome Sadie has – her collection of conditions is so rare that her family don’t have a diagnosis. When Sadie was born three years ago, she became one of 6,000 babies born every year with SWAN, or syndrome without a name.

Sadie’s mum, Nicola, first realised something was wrong at her 12-week scan, where the scan showed fluid behind Sadie’s neck. Tests followed, and by the 20-week scan, doctors confirmed that Sadie had a heart condition.

Nicola was referred to Great Ormond Street Hospital (GOSH), where she was told that her unborn child had a ventricular septal defect (VSD) – a hole in the heart – and a hypoplastic arch – a narrowing in the heart’s aortic valve. The doctors made plans to perform open-heart surgery on Sadie once she was born.

After a planned labour, Nicola wasn’t able to hold her newborn baby. Instead, Sadie was taken straight to intensive care, where, within a few hours, she stopped breathing. At that stage, doctors didn’t know that narrow airways were causing Sadie’s respiratory issues. Sadie was put into a coma at GOSH while doctors investigated the extent of her condition.

“It was extremely challenging, awful… the worst time of our lives,” says Nicola.

Sadie underwent open-heart surgery at just three weeks old. The four-hour operation was successful in closing the large hole in her heart and opening the narrow aorta, but Sadie continued to struggle to breathe.

"Is her little body going to be able to cope?"

Doctors discovered that Sadie also had Pierre Robin sequence – which affected her head and face – a cleft palate, and that she’d been born without a spleen. Surgeons fitted Sadie with a tracheostomy to help her breathing and with a gastrostomy – a tube inserted directly into her stomach – to feed her. In addition, surgeons used a balloon dilation to open one of her heart’s arteries that was too narrow.

Sadie underwent all this treatment before she was seven months old.

“Each time Sadie went to theatre, I wondered, ‘Is she going to survive the anaesthetic? Is her little body going to be able to cope with more treatment?’ But she always recovered so well, which was lovely,” says Nicola. “In total, we were in hospital for 11 months.”

The unknown

Now three years old, Sadie is supported at home by her family – including her five-year-old sister, Isla – and a team of carers who provide round-the-clock care.

“We know what each of Sadie’s conditions are separately,” says Nicola, “and we know we can manage them with the help and care we get, but as a whole, it’s unknown what her specific genetic condition is. We’re part of the 100,000 Genomes Project (a project to use the DNA of NHS patients to improve knowledge of the causes and treatment of diseases) because doctors don’t know what syndrome she has. We’re waiting to hear. But we might never get an answer.”

Sadie is now able to walk and is slowly learning to eat, little by little, following years of feeding through a tube. For her third birthday, she had a party at home with a buffet, balloons and a monkey cake, followed the next day by a rare trip to the soft play centre and Pizza Hut!

Sadie’s condition has improved to the point that, later this year, her tracheostomy may be removed. “That will be life-changing,” says Nicola. “I’ve never heard my daughter speak, or even cry. She’s managed to find ways to communicate with us, including Makaton sign language, but if we’re able to remove the tracheostomy, that will be a massive milestone for us!”

"Every penny helps move forward with research."

“Research is very important to families like ours,” says Nicola, “because we need to raise awareness and vital funds to support finding out what is wrong with Sadie and other children across the country and the world.

“Every bit of money that people can donate is much appreciated. We really want an answer, and the same goes for other families. Without that help, support and research, our children will grow up not knowing what’s wrong with them.

“Anyone that wants to give money, or do things to fundraise, I would say please donate whatever you can. However small, however large, every penny helps to move forward with research.”

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