Nager syndrome: Fiona's first five years

Fiona's dad, Andrew, talks about how an emergency tracheostomy saved his daughter's life, and the complex surgery she's had at Great Ormond Street Hospital (GOSH) to allow her to breathe normally.

"We could see as soon as Fiona was born that her jaw was very far back," says dad Andrew.

As quickly as Fiona (pictured right) was passed to mum Emi for her first feed, she was taken away again and rushed to special care. Doctors told Emi and Andrew that she may have Pierre Robin syndrome, where a smaller than normal lower jaw causes breathing problems. "We were so shocked and worried," says Andrew.

Diagnosis

It transpired that Fiona’s condition was in fact on an extreme scale and that she had a much rarer disorder, Nager syndrome (Nager acrofacial dysostosis).

At just 10 days old, she had an emergency tracheostomy – a hole was made through the front of her neck and into her windpipe for her to breathe through. 

She finally went home for the first time when she was almost three months old. "There was a lot for us to learn," says Andrew. "The hardest thing was the night-time."

The difficulties Fiona had with being fed through a tube plus regular hospital visits made Andrew’s job as a civil servant impossible. "The number of hospital appointments were more than my annual leave," says Andrew. 

When voluntary redundancy came up, Andrew chose to take it so that he and Emi could instead concentrate on a photography business they had started before Fiona was born. "We could run it from home and I didn’t have to worry about taking time off," says Andrew.

Distraction surgery

When Fiona was 18 months, she was referred to maxillofacial surgeon Mr Peter Ayliffe at GOSH and recommended for distraction surgery to lengthen her jawbone.

The process began in 2010, when Fiona was three. "They cut the jaw in half and put in bolts and a screw that we had to turn every day to stretch the jaw out – it was painful for her," says Andrew. "The first stage worked well but then an infection meant the screws wouldn’t hold and she had to have it redone." 

After five lots of surgery, Fiona was able to have the last bolts taken out in April. "It’s such a difficult operation," says Andrew. "But the hospital has been wonderful. They make us feel very relaxed and Fiona trusts Mr Ayliffe so much. She is never nervous before operations."

Fiona, now five, may need further surgery on her jaw to reconstruct the joint as her mouth won’t open far (she mainly uses the sign and symbol language Makaton to communicate). 

Photo of Fiona with dad Andrew
Fiona with her baby brother and dad, Andrew

Nager syndrome has also meant Fiona needed two lots of surgery to correct problems with her thumbs. She can’t straighten her elbows and is seeing a specialist for that. A bone growing across the inside of her ear blocks sound so she’ll have a permanent bone-anchored hearing aid.

Looking ahead

"Hopefully once all the operations are finished we can look at having the tracheostomy removed," says Andrew. "But Fiona still enjoys the same things as most children. She loves going to the park and riding her bike and scooter. We haven’t wrapped her up in cotton wool."

Surgery has meant Fiona has missed 80 per cent of school. "She had made very good friends but because she wasn’t going, they formed other bonds," says Andrew. But, he says: "Fiona has a very positive outlook on life." 

Andrew worked as a porter at the hospital when he was 21. "I saw then the strength of character that children have here," he says. "And what we’re most proud of is Fiona’s confidence."