One prick and S'pore boy risks bleeding to death

It was a routine blood test for jaundice in their newborn baby.

But after being pricked for a blood sample, he kept bleeding for hours.

They knew something was wrong but were still stunned to discover their son has a rare blood disease that affects only about 200 people in Singapore.

In April 2006, Mr Gerard Vaz and his wife, Grace, found that their son, Dominic, had been diagnosed with haemophilia, a genetic blood disorder that has no cure.

It results in the body's inability to form blood clots to stop bleeding, so a haemophiliac can bleed to death when injured.

Mr Vaz, 39, a special education teacher, said: "We knew so little about haemophilia, we had to learn. The Internet was a great help."

Dominic, the second of four children, was only seven days old at the time, and his parents were shocked as they had no family history of haemophilia.

In the five years since the diagnosis, Dominic has been hospitalised about 16 times for serious bleeding episodes, such as when his injection site kept spurting blood last November.

Although Dominic gets subsidies and is only warded when necessary, the medical bills have hit $165,000.

The combined net income for Mr Vaz and Mrs Vaz, 37, a probation officer, is about $10,000 a month. To help haemophiliac patients with treatment cost, the Haemophilia Society of Singapore will have its first charity walkathon and carnival this Sunday.

Dominic's treatment costs have jumped since last May because he developed resistance towards the blood-clotting protein he had been injected with.

Resistance

Resistance

Only 10 per cent of all haemophiliacs worldwide develop such resistance, said Dr Joyce Lam, a consultant in paediatric haematology-oncology at KK Women's and Children's Hospital (KKH). Dominic now needs another type of clotting protein that costs $3,000 per dose, compared to only $160 previously.

In the November bleeding episode, he needed seven doses, costing a total of $21,000. His parents hope he can go on a six-month intensive therapy involving daily infusions to reverse the resistance, but they will need to pay over $200,000.

Mrs Vaz, who learnt of the cost only two days ago, said: "Where are we going to find the money?" Dominic has severe haemophilia, which means the amount of essential blood-clotting protein in his body is less than 1 per cent of that in a normal person.

That means he can experience internal bleeding at any time without external trauma such as falling or knocking into things, said Mrs Vaz.

"In the middle of the night, he can wake up screaming from pain due to bleeding in his joints. We try to close the windows so as not to wake the neighbours."

Dominic also has nightmares from reliving his painful injections.

Mrs Vaz said: "That's the hardest part, watching him getting poked five or six times before they can find a vein. Because he is so young, his veins are very fine.

"He would be screaming, and it would take four adults to hold him down."

During the hour-long interview in their five-room flat in Potong Pasir, Dominic behaved like a typical child - rolling on the floor and playing with his mother's laptop mouse despite repeated warnings to stop.

Mr Vaz said his son cannot do some activities like riding a bicycle, so they try to engage him through "safer" activities like reading and going for keyboard lessons.

He added: "But we don't stop him from running or jumping, unless he is injured. We want him to have as normal a childhood as possible, so we are prepared to take a few risks."

Someone suggested that Dominic wear a helmet and padded clothing, but his parents did not want him to be ridiculed.

Special notebook

Special notebook

To monitor his condition, Mrs Vaz keeps a detailed record of Dominic's injuries and treatments in a special notebook:

Entry #7, from when Dominic was about a year old, reads: "Learning to walk, trips over himself and cut upper lip. Transfusion and stitches".

Entry #27, from last May, reads: "Morning at Fort Canning Park. Constance's (Dominic's eight-year-old sister) family day. Afternoon left ankle swells, can't walk. Warded."

His condition also means the family has had overseas holiday plans disrupted.

For example, a four-day trip to Kuala Lumpur in Malaysia came to an end after just one night because Dominic had to be rushed back for treatment.

His siblings understand and are not resentful towards him for the attention he gets, said Mr Vaz. Besides Constance, Dominic also has a younger sister aged four and a five-month-old brother.

As haemophilia only affects males, the baby will be tested when he turns one.

"We are keeping our fingers crossed and praying," said Mrs Vaz.

The couple's Catholic faith and close family ties have helped them to cope with caring for Dominic. Dominic's paternal grandparents are a 10-minute drive away, and his maternal grandparents live just a few blocks away. Both sets of grandparents see the children almost every day.

Whenever Dominic is hospitalised, relatives will visit and help care for his siblings.

Mr Vaz said he and his wife take turns to be with Dominic to ensure the other children do not feel neglected. They are grateful to have understanding bosses who are flexible and who let them take leave when needed.

They are concerned about Dominic going to primary school next year, as there will be a higher risk of injury from being with bigger and more active children.

Also, Dominic will no longer be in childcare, where teachers have known him for years and know how to handle his injuries.

His parents hope he gets into a school near KKH, where medical personnel like Dr Lam and specialist nurse Lim Chiew Ying are familiar with his case.

They also look forward to lift upgrading in 2014 so Mr Vaz does not have to carry Dominic, who currently weighs 24kg, up and down the two flights of stairs to the lift when he cannot walk.

They watch Dominic's diet carefully because being overweight will stress his joints more.

Dr Lam praised Dominic's parents, saying: "They are experienced in spotting when a bleed is a serious one that needs treatment in hospital, and when a bleed can be treated at home.

"In fact, they have already learnt how to give him injections at home so that any injury can be treated as soon as possible."

Mr Vaz said: "We will always need to keep watch over him, but he is our son and we will never give up on him.

"It's hard for him too. He often has to sit in a corner while his friends play. So we do what we can for him."

"We don't stop him from running or jumping, unless he is injured. We want him to have as normal a childhood as possible."

Rare condition occurs only in males

Haemophilia is caused by mutations in the genes that the body needs to produce an essential blood-clotting protein.

These genes are found on the X-chromosome, so only men can have the condition because their Y-chromosome cannot override their single X-chromosome.

Women have two X-chromosomes, so if one of them has the mutated haemophilia genes, the other chromosome will override the effect of the genes, making them carriers of the condition.

For these women, their sons will have a 50 per cent chance of inheriting the condition from them.

While haemophilia is usually inherited, it is possible for someone to have the condition without getting faulty genes from his mother, as spontaneous mutations of the genes can occur, said KKH paediatric haematology-oncology consultant Joyce Lam.

Dr Koh Pei Lin, consultant in paediatric haematology-oncology at the National University Hospital, said gene therapy is a potential cure for haemophilia, but this is not yet available as experiments are ongoing.

There is currently no cure, but the condition can be treated with injections of the missing blood-clotting protein.

It is also important to track which joints are most prone to injury - like what the Vazs do with Dominic.

Dr Lam explained that this is because every bleed into a joint causes swelling and makes that particular joint more prone to future bleeds.

Repeated bleeds cause the protective cartilage to break down, and early arthritis sets in. Many haemophiliacs may need a joint replacement by the time they are in their 20s if their bleeding is not well controlled.

According to the Haemophilia Society of Singapore (HSS), there are over 200 haemophiliac patients here.

A spokesman for the Ministry of Health said there have been no deaths from haemophilia in the past five years.

Death can occur when there is severe bleeding or bleeding into vital organs such as the brain, said HSS president Dr Gan Kim Loon.

He added: "In the past, haemophiliacs did not live past 30 years of age.

"However, with today's medical advancement, adequate treatment such as preventive injections of the blood-clotting protein can enable a haemophiliac to engage in physical activities and enjoy a normal life expectancy."

Support haemophilic sufferers

The theme for the first Haemophilia Society of Singapore (HSS) walkathon and carnival is "Walk Strong Towards a Better Future".

It will be flagged off by Mr Sam Tan, Mayor of Central Singapore District, this Sunday at the Playground@Big Splash in East Coast Park.

The HSS hopes the event, which runs from 7am to 11.30am, will raise awareness of the plight of haemophiliacs like Dominic Vaz.

It also aims to raise $50,000 to help haemophiliac patients with their treatments. Subsidies are available to the 130 current members of HSS who have haemophilia.

HSS also has an educational award to encourage haemophiliac patients to excel in their studies, and a welfare fund to help tide individuals over acute financial hardship.

Mr Tan, together with 1,600 members from the Central Singapore Community Development Council's healthy lifestyle club, will join haemophiliac patients and their loved ones and volunteers, comprising about 500 people, for the event.

HSS president Dr Gan Kim Loon said: "Haemophilia is one of the most expensive chronic diseases to treat. We hope that the public will help to contribute to HSS' life-changing programmes to build a better future for people with haemophilia in Singapore."

To participate in or make a donation to the event, visit www.hsswalkathon.com

jenlee@sph.com.sg

This article was first published in The New Paper .

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