Queensland heart surgeon Homayoun Jalali has operated on eight members of the one family across three generations, likening each surgery to scaling one of the world's highest peaks.
Dr Jalali, who has conquered six of the seven tallest mountains in the world over the past 20 years, has performed heart operations on the Weaver family — from teenager Nick, who underwent surgery this year, to his grandfather, Frank.
Ten members of the Weaver family have been diagnosed with a rare genetic condition.
Marfan syndrome affects the body's connective tissue, commonly the heart, eyes, blood vessels and skeleton.
The Weavers were unaware they were at risk until the family's late patriarch Frank was diagnosed in his 60s after a health scare more than three decades ago.
"It's a little bit like building a house with good quality bricks, but the cement you're using to put those bricks together is not of perfect quality," Dr Jalali explained.
"It affects all the walls in your home and you just don't know which one is going to be affected first."
Tell-tale signs of the disorder include being tall and thin with unusually long arms, fingers and toes.
Ticking time bomb
The severity of the condition varies, but without regular monitoring, people with Marfan syndrome — caused by a defect in the fibrillin-1 gene (FBN1) — may be walking around with a ticking time bomb inside their chest.
The aorta, the body's largest artery, is at risk of dilating and rupturing, which is often fatal.
Dr Jalali, who divides his time between public and private hospitals, operated on Frank Weaver, by then in his early 80s, for a severe aortic aneurysm — a bulge in the wall of the blood vessel — about 12 years ago.
"His aneurysm who one of the largest I've ever seen,'' Dr Jalali said.
Frank Weaver's Marfan syndrome diagnosis led to other family members being tested for the disorder, which occurs in about one in 5,000 people.
Six of his seven children were diagnosed as having it, and eventually so were three of his grandchildren.
Nick Weaver, 13, is the latest family member to end up in Dr Jalali's operating theatre after experiencing shortness of breath.
This year, Dr Jalali repaired Nick's mitral valve in a five-hour operation at St Vincent's Hospital Northside, after it began to leak.
In open-heart surgery – which involves cutting through the breastbone to get to the heart — he sewed a ring around the outside of Nick's valve to reinforce and tighten it.
Dr Jalali describes the mitral valve as looking a bit like a mini "parachute with cords", helping to prevent blood from flowing backwards as it moves through the heart.
"In Marfan, it's a bit like jumping with a parachute with cords, which are all stretched," he said.
"It's not going to hold anything and then the blood regurgitates towards the lungs."
During Nick's surgery, Dr Jalali reinforced 21 mitral valve cords with a material commonly used in waterproof jackets.
"The natural cord is still there, and I doubled them up from behind," he said.
Among the challenges of performing the surgery on a 13-year-old is factoring in growth.
"That adds an extra layer of difficulty in achieving a good repair," Dr Jalali said.
"We had to balance it out to make sure that it caters for him now and … leave some room for future growth.
"The way the operation is done, it should support him through his life, that's the goal. Everything you do today has to fit into a long-term strategy."
Knowing that Dr Jalali had successfully operated on seven other members of the Weaver family gave Nick and his parents John and Michelle some peace of mind.
John Weaver, who also has Marfan syndrome, had his aortic root replaced by a different surgeon while living in the UK as a 35-year-old in 2007 — the first member of the Weaver family to undergo heart surgery for the condition.
A father's guilt
He said watching his son go through open-heart surgery was "far more stressful and traumatic" than undergoing treatment himself.
"When it's yourself, you just deal with what's in front of you and you get on with it," he said.
"When Nick was diagnosed, it brings it home. There's a high amount of personal guilt.
"But because 10 of our family across three generations have now had the surgery and have really positive outcomes, you tend to focus much more on the positives than the negatives."
Mr Weaver said his dad Frank had lived until 90, despite having Marfan syndrome.
Nick, who lives with his family at Michelton, on Brisbane's northside, knew he had the condition all his life, unable to play high-impact contact sports, such as rugby and AFL, on doctor's orders.
"My brothers can do those sports. I get kind of jealous," he said.
"But not being able to play those sports has given me the opportunity to learn other sports, like basketball and volleyball."
He's also a strong chess player, capable of beating his dad.
Nick spent 12 days in St Vincent's Hospital Northside for his mitral valve repair, including time in the intensive care unit, where he was allowed a visit from the family's labradoodle, Millie.
He's also had the lenses in both eyes replaced because of his Marfan syndrome and will require regular check-ups throughout life to monitor his heart and blood vessels.
"Ultimately, knowledge is power, so for us, knowing about it and being able to respond in a timely way just takes a whole heap of the stress out of it," his dad said.
"We've had the luxury, and Nick's had the luxury, of us knowing about it from the day he was born, pretty much.
"If you monitor and intervene early, then you've got a long life in front of you.
"As a family, we lead an entirely normal existence other than Nick not being able to play contact sport. They're small sacrifices."
Nick's sense of humour has remained intact in the face of his Marfan syndrome diagnosis, and he jokes about the long scar down his chest after Dr Jalali's surgery.
"Mine's actually a lot neater than everybody else's," he says with a grin.
"My uncles joke that it took all of them to get me to do it perfectly."
Out-of-the-ordinary surgeries
Dr Jalali, who trained in Belgium, the UK and US before moving to Brisbane 25 years ago, admitted to feeling "a lot of pressure" caring for multiple members of the one family.
He uses mountain climbing to occasionally escape the high-pressure environment of surgery, finding similarities between the two.
Detailed planning, he said, was vital to the success of both.
"[To conquer] a mountain … you need a lot of preparation, you need mental and physical strength," he said.
"That's exactly what you have with the surgeries, which are out of the ordinary, or let's say, cutting edge. You need extreme preparation. You need to train."
Dr Jalali said mountain climbing also grounded him.
"I'm used to coming to hospital — you've got trainees … you've got patients, you've got nurses. A lot of people treat you with a good degree of respect," he said.
"At some point, you may start to think that you are somebody, right? Because people give you that respect.
"And then you go to this expedition where nobody knows who you are. You carry your own gear. You live in a little tent … and bring all your garbage back with you.
"It actually resets my mind completely. And then you come back, you're ready to go and take those lessons back to care for people."
While he has climbed six of the world's highest mountains, the tallest peak – Mt Everest – eludes him.
To conquer Everest would require three months of preparation — time Dr Jalali is not prepared to deny his patients, given the long waiting lists for heart surgery.
"Everybody does their bit in life, and everything matters. From my end, I thank God every day for the opportunity which is given to me to be able to help lots of other people," he said.
"That's just phenomenal. If it wasn't for that, you wouldn't be able to keep going."
