The Hongkongers living with a silent killer, and sufferers hoping to help

Hundreds of people in the city may be unaware they have Marfan syndrome, a genetic disorder that makes you unusually tall but can also fatally damage the heart's main artery

PUBLISHED : Friday, 29 May, 2015, 6:29am
UPDATED : Friday, 29 May, 2015, 6:29am

When she was diagnosed with Marfan syndrome, Sandy Leung Wai-sum was in her early twenties. She had visited the doctor a week earlier because of neck and chest pains and, like most people, had never heard of the rare and potentially life-threatening genetic disorder, and had no family history of it.

"I was shocked. I was young and there were things I wanted to do that the doctors told me I couldn't do - such as travelling the world, learning glass blowing and starting a family," she says.

But Leung, then a watch technician, carried on with her interest in arts and crafts and eventually began studying ceramics. Despite the dangers that pregnancy presented, she had a daughter, who is free of the syndrome, and four years ago she quit her job to focus on making art.

This week Leung and three other Hong Kong artists whose lives have been affected by Marfan syndrome are staging a ceramics exhibition, titled "A Rare Encounter", at Gallery with a Heart in Ap Lei Chau to help raise awareness of the condition. The newly dubbed "Marfan Four" are Leung along with Judy Chu, Steve Lau Chi-keung and his wife Olga Chew, who does not suffer from the disorder.

Lau, who is also president of the Hong Kong Marfan Syndrome Association, was diagnosed with the condition after suffering a series of heart attacks in his thirties that required emergency surgery.

Experts estimate Marfan syndrome affects one in 5,000 people globally. That means about 1,400 people are living with it in Hong Kong, although there are no precise figures.

It is a genetic disorder and - as it's a dominant characteristic - a Marfan sufferer has a 50 per cent chance of passing it on to his or her children.

The syndrome results from a mutation in the gene that controls the production of a protein called fibrillin-1, which gives elasticity to connective tissue such as cartilege and blood vessels. One of the most deadly effects for sufferers is dilation of the aorta, the main artery leading out of the heart. If the aorta becomes too wide, or tears, the results can be fatal. There are myriad other possible complications affecting quality of life, including dislocation of the lens in the eye.

Chu, a watch designer, was diagnosed when she had to undergo heart surgery to correct Marfan-related problems.

"I have had many health issues since I was young. In a way, I am used to it. I don't have to take any specific medicine, but I constantly have check-ups with specialists for my heart, eyes and spine."

Frequent dislocation of the joints is another related problem that has hit Leung. "I just have to be very careful and remember all the dos and don'ts as instructed by my doctors. The symptoms that affect me daily are my eyes - they get very dry if I don't apply eye drops at night - and I sometimes put splints on my arms and legs to protect them when I sleep."

There are several physical features that are associated with Marfan syndrome, such as being tall and lithe. Such characteristics can have an ironic effect for young sufferers, according to one expert.

Ceramics start life as a piece of soft clay that hardens through firing to become beautiful but fragile artworks that can last for centuries if well taken care of. It is a metaphor for the lives of Marfan patients
Julia Ip, executive director of Project Artist X

"In general, people with Marfan syndrome are quite tall. So at school they are more likely to be selected for the basketball team," says Dr Brian Chung Hon-yin, a clinical geneticist at the University of Hong Kong. "But if the game is too vigorous, it increases the demands on circulation and can lead to complications such as dilation of the aorta."

The exhibition will showcase the work of the four, all ceramic artists in their own right, who have exhibited in Hong Kong and abroad. They were brought together by Julia Ip, executive director of Project Artist X, a social enterprise that organises events for local artists.

Says Ip: "Through their own artistic styles, the four highlight the strength and fragility of ceramics as they find these rare and conflicting attributes closely represent their own characters, a theme that resonates throughout the exhibition.

"Ceramics start life as a piece of soft clay that hardens through firing to become beautiful but fragile artworks that can last for centuries if well taken care of. It is a metaphor for the lives of Marfan patients."

This special connection with clay was echoed by Leung: "I love the fact that I can be totally in control of clay and make all kinds of shapes out of it. On the other hand, I am fascinated by all the surprises and unexpected outcomes when the clay is fired. It is just like my life, and I think that's why my work really reflects my condition."

Another aim of the exhibition is to spread the word about the syndrome and encourage people who may have it to seek medical advice and treatment as soon as possible.

Lau says: "We hope to promote public understanding of the syndrome, especially among parents, schools, athletes and medical professionals, to facilitate early diagnosis and proper treatment."

The need for greater awareness is a major concern of the Marfan Foundation in the US, which estimates that half the people living with the condition do not know they have it. Its president and CEO, Michael Weamer, says: "It is critical for people with Marfan syndrome to be diagnosed early and treated correctly. If they are not diagnosed and treated, they are at risk of a sudden, early death from a tear in their aorta. But there is good news: with diagnosis and treatment, they can live a normal lifespan."

There are other major benefits to learning about the condition sooner. One is that surgery to replace or repair a faulty aortic valve or part of the artery that is stretching can be done in a more controlled way.

"If we can do the surgery electively, rather than in an emergency, there are things we can do to make it more successful," Dr Chung says.

"And we want everyone who has Marfan syndrome to know they have it before they embark on getting married and having kids. And if they do choose to have children, there are things doctors can do such as pre-natal diagnosis."

The exhibition shows how far the artists have come in their relationship with the illness.

As a child, Chu had to wear a full-torso cast for a year after surgery to correct a curved spine. But she has never talked about her illness publicly, and when she appeared in a documentary about it, she asked for anonymity.

Taking part in the exhibition "feels like coming out of the closet", she says. Her diagnosis when she was about 30, helped make sense of her constant ill health. "It sort of linked up all the health problems. It showed that it's not just me."

While setting up some of her works for the exhibition, Leung shares the sentiment. "A few years ago, I probably wouldn't have agreed to do this," she says. "I didn't want to acknowledge that I had Marfan syndrome, but now I am OK and open about it."

One of her works is based on Chinese chess, while another looks like a game of tic-tac-toe. They remind her that in life "the outcome isn't just under your control", she says. "It's about your opponent's moves too."

"A Rare Encounter", Gallery with a Heart, unit 1514, 15/F Harbour Industrial Building, 10 Lee Hing St, Ap Lei Chau, May 30-Jul 1, noon-7pm Tue-Sat (by appointment Sun and public holidays). For details, call 2420 7600 or go to projectartistx.com

 

 

 

Signs and symptoms of Marfan syndrome

Although people are born with Marfan syndrome, the features may not surface until later in life. These might become more obvious during a growth spurt in adolescence, or even later. Symptoms can vary considerably, even among members of the same family. Some may develop potentially fatal problems, while others suffer milder effects. Many features are progressive, however, and will get worse with age. And problems such as aortic stretching may not be immediately obvious. The more visible signs to look out for include:

  • Disproportionately long limbs or fingers and toes
  • Abnormally curved spine
  • Sunken chest
  • Flat feet and crowded teeth
  • Extreme nearsightedness If you have any of these symptoms, you should be referred to a specialist for examination. "There are clinical tests that specialists will be able to do," says clinical geneticist Dr Brian Chung Hon-yin. "The gene can even be tested in Hong Kong. From the blood cells we get the DNA and can read out the fibrillin gene to check if there are any spelling mistakes. If we can find the mistake, we can make a diagnosis."

 

According to the Marfan Foundation in the US, there are other features you can test for. One is if your arm can't straighten fully: if the angle at your elbow is smaller than 170 degrees when fully extended, this could be cause for concern. Another is if your thumb, when enclosed by the fingers in a fist, pokes out beyond the little finger. You can also test by wrapping your thumb and little finger around the opposite wrist until they touch. If the thumb covers the entire fingernail of the little finger, this could also be a symptom.