They were told by a paediatrician that their baby daughter was suffering from a rare genetic disease linked to serious heart problems.

“Sai-yu was in the hospital’s intensive care unit after she was born as she was not able to breathe on her own and her face was blue because of that,” her father, Lai Chi-leung says.

“After a series of examinations, the doctor told us that she seemed to be suffering from a genetic disease.”

Sai-yu was transferred to the Queen Elizabeth Hospital where specialists diagnosed the condition as Marfan syndrome, a genetic disorder found in 1 in 5,000 people that affects the body’s connective tissue.

“The doctors at Queen Elizabeth Hospital told us our daughter’s condition meant we needed to be prepared because a baby born with Marfan syndrome might not live very long,” Lai says.

“I was very depressed for a couple of weeks. But after some while, I thought we had to face the problem and deal with it after all, so why not try to be positive?”

Connective tissue holds all the body’s cells, organs and tissue together and plays an important role in helping the body grow and develop properly.

As connective tissue is found throughout the body, the defective gene that causes Marfan syndrome can affect many different parts of the body.

Features of the disorder are most often found in the heart and other organs, blood vessels – including aortic enlargement, the expansion of the main blood vessel that carries blood away from the heart to the rest of the body, which can be life-threatening – bones, joints, skin and eyes.

Sufferers tend to be tall and thin with long limbs, fingers and toes.

Modern treatments lessen Marfan syndrome symptoms

About three out of four sufferers inherit the disorder from a parent who suffers from it, but some people with the Marfan syndrome are the first in their family to have it.

Although there is no known cure, modern treatments can lessen the symptoms of Marfan syndrome, which means many people with the condition have a normal life expectancy

A few months after her birth, Sai-yu was able to be discharged, but the real challenges for her and her family had only just begun.

Like many people with the condition, Sai-yu has long limbs and can become easily out of breath and dizzy.

She also suffers from extreme near-sightedness and needed an operation after the lenses of her eyes became dislocated.

She has frequent hospital check-ups as her lungs are susceptible to infection. Her lungs collapsed once and she needed to undergo an operation when she was about 10.

“I wanted to play basketball but couldn’t – I could only watch other kids play,” says Sai-yu, who must avoid high-intensity activities and contact sports because she has weak bones.

Enlarged aorta required heart surgery

She also suffered from an enlarged aorta, which meant she had to take long-term medication for her blood to reduce the risk of the blood vessel tearing.

However, the medication led to side effects, such as fatigue and dizziness, and badly affected her ability to study and her social life.

In early 2016, Sai-yu’s case was referred to the Adventist Heart Fund of Hong Kong Adventist Hospital Foundation.

Sai-yu underwent cardiac surgery at the Hong Kong Adventist Hospital – Stubbs Road in August, with the operation and aftercare carried out by a surgeon and team of doctors from the Adventist Heart Fund, which also provided financial assistance to the Lais together with a generous donor.

Doctors from the hospital also participated in the surgery.

The foundation, set up in 1999, aims to provide timely medical treatment for sick and underprivileged children in Hong Kong, mainland China and Asia through its Heart, Hearing, Medical and Orthopaedic charity funds.

“After we evaluated her condition, we thought it was time to do the operation even though the size of her aorta had not reached five centimetres [the size when surgery is considered],” says Dr Eddie Cheung, assistant medical director of the Adventist Heart Fund and a specialist in paediatrics.

“We wanted to lower the risk and didn’t want to wait until her condition got worse.”

The complicated open-heart surgery took place in a state-of-the-art theatre at the hospital’s Hong Kong Heart Centre, and was carried out by a special medical team that comprised some of the city’s most experienced paediatric cardiac surgeons.

During the operation, which lasted for about four hours, the experts replaced the dilated and unhealthy part of Sai-yu’s aorta with a fabric tube.

Fortunately, the surgery was a great success and common postoperative complications, such as an irregular heartbeat, disappeared after a month.

“We consider that Sai-yu has completely recovered from the surgery,” Cheung says.

“But following the surgery, she still has to continue taking her medication.

“The surgery has not only drastically improved her quality of life but also reduced the risk of an aortic dissection [or tearing], which can be fatal.”

Sai-yu’s father says: “We’d known that Sai-yu would have to undergo this surgery since she was born.

“As parents, of course we were nervous and worried.

“But we are so grateful that Sai-yu was treated by some of the best doctors and medical staff in Hong Kong, and that the Fund has helped us a lot – and given us hope.”

The Adventist Heart Fund, which was launched in 1991, has provided cardiac surgeries and treatments for more than 300 children. Earlier this year, its scope was expanded to treat adult patients suffering from congenital heart disease.

Doctors are still regularly monitoring Sai-yu’s condition as the blood vessels in other parts of her body could also start to dilate, but the surgery means she is now hopeful about the next chapter of her life.

“I don’t need to worry too much about being at risk of any vessel rupturing now,” Sai-yu says.

“I can also walk greater distances and do aerobic workouts, such as indoor cycling for longer now.

“I’m really thankful to all the doctors, the kind donor and all the medical staff who have taken such good care of me all these years."

Before the surgery, Sai-yu could walk for a very short distance; she would feel exhausted after walking for about 100 metres (100 yards), or walking up the stairs of a two-storey building

“I’ve just been to Hong Kong Disneyland and tried some action-packed activities, such as riding the Slinky Dog Spin and the new Iron Man ride: it was so exhilarating – I just wanted to go again,” she says.

“In the past, I could only try the slower rides for very young children, such as the revolving teacups and Winnie the Pooh ride.”

Before her operation, she also had to sit in a wheelchair to get around the theme park, but now she can comfortably walk from one zone to another by herself.

Looking back to how she was before, she admits that there were times of great sadness and frustration when she felt like giving up.

“But I realised that if I gave up then all of the great efforts of everyone over the years would have gone to waste,” she says.

“I realise that my emotions can affect my body and how I feel inside. So now, I always stay positive and optimistic.”