Kaikohe baby one of 1200 people in world with congenital central hypoventilation syndrome

Blake Sutherland, 5 months, is one of about 1200 people in the world diagnosed with congenital central hypoventilation syndrome. Photo / Supplied

When baby Blake goes to sleep he stops breathing.

Five-month-old Blake Sutherland is one of an estimated 1200 people in the world diagnosed with congenital central hypoventilation syndrome, according to the National Organisation for Rare Disease in America. And Blake has a more rare and serious version which only about 10 per cent of sufferers have.

The most defining symptom is the inability to control breathing which results in the life-long need for a ventilator while sleeping.

For Blake, that means he will breathe through a tracheostomy tube which protrudes from his neck until he's about 5. When he's older he will be able to sleep using a mask attached to the ventilator instead.

"You look at him during the day and he's a normal baby. He's a happy, smiling, playing, dribbling little guy. He's super, super smiley. He's the happiest little boy. People don't realise the severity of it. They look at him and think, 'he's fine. Look a him, there's nothing wrong with him. He's growing, he's happy, he's smiling'," Mother Grace Waterman said.

"At night time, that's when he can die. People don't quite understand that."

The syndrome affects the nervous system, which controls many of the automatic functions in the body such as heart rate, blood pressure, sensing of oxygen and carbon dioxide levels in the blood, bowel and bladder control and temperature.

Blake's gene mutation also means he is more at risk of developing cancerous lumps.

Waterman knew something was wrong when he turned blue and became unresponsive during a nappy change at 6 weeks of age.

He came back around quickly but was rushed straight to hospital and taken to Starship for weeks of testing.

Blake Sutherland, 5 months, has been in Starship Hospital for the last six weeks as doctors trialled the best way to keep him breathing at night. Photo / Supplied

The only clue came when he failed a sleep study. Doctors then sent a blood sample to Finland for genetic testing.

The results came back eight weeks ago and for the past six weeks Waterman and Blake have been based at Starship trialling different ways to keep the "resilient" boy breathing while he sleeps.

Almost a month ago doctors decided a tracheostomy was the best option and just over a week ago surgeons placed a tube in his windpipe which he is now learning to breathe through.

"To be honest it's a hell of a lot better than a mask. He sleeps a lot better. It is still quite sore and raw at the moment. He's taking to it really, really well. Being young probably helps a lot," Waterman said.

Blake Sutherland, 5 months, will need to sleep with a ventilator for the rest of his life. Photo / Supplied

But the pair have another five or six weeks left before they can head home to Kaikohe to be with the rest of the family, including Blake's four siblings, as Waterman learns how to hook the ventilator up, use suction to clear the tube if it gets blocked and change it each week.

"You can't take your eyes of him. You have to be ready to suction him, you have to be ready to do a quick emergency trach change. It's his airway - you've got a piece of plastic down his airway and that can get blocked. You have to be awake, you can't sit down and not look at him.

"You've got to watch it to make sure it doesn't get blocked, you've got to check his colour all the time, make sure that he's breathing correctly - that he's not trying too hard to breathe."

Blake will also need regular check-ups for the rest of his life to monitor his heart, check for cancer and keep an eye on his vision.

Since Blake Sutherland was diagnosed with congenital central hypoventilation syndrome he has had a tracheostomy tube inserted and is attached to a ventilator when he sleeps. Photo / Supplied

Waterman said it was going to be an unusual journey for the family because there was no textbook on how to manage it and very few people who had experience with the condition.

"It's going to be a wait and see sort of thing. He may not be able to run, he may not be able to swim because it might affect his breathing. I'm not going to put any limitations on him but I'm going to have to be a little bit more careful than you would be with your average child," she said.

"I can't really predict anything - neither can the doctors, neither can the people that have it themselves."

Blake Sutherland, 5 months, has congenital central hypoventilation syndrome and has to be attached to a ventilator when he sleeps. Photo / Supplied

While Blake and Waterman learn how to handle the new set-up, the family are also waiting for funding approval and using the time to make preparations for their return.

Blake needs someone to watch him all night to make sure he keeps breathing, so carers have to be found and trained before they can take over the night shift.

Money from a Givealittle page set up by a friend is also being used to finish some renovations to their house and make sure it's a healthy place for Blake to live.

"If he catches a cold it could send him to hospital," Waterman said.

Waterman said it was the amazing support of her friends, family, the Kaikohe community and the amazing nurses and doctors on ward 26b at Starship that kept her and Blake going through all the challenges.