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SINGAPORE - The joys of parenthood are complicated by bewilderment when parents learn of disorders they never knew existed - Antley- Bixler syndrome, Pyruvate dehydrogenase complex deficiency, Cornelia de Lange syndrome and spinal muscular atrophy.
The toll these illnesses exact on parents is a physical, emotional and financial one.
Little Kang En Ning has Antley-Bixler syndrome, a rare genetic disorder. She is just a year old but she has already undergone five operations, says her father, IT officer Kang Ching Hsiong, 39.
He is married to housewife Lee Seu Hong, 36. En Ning is their only child.
At three weeks old, the child had a tracheotomy to help her breathe; at two months, she needed surgery to close a 5mm hole in her heart; a cyst near her right ovary was excised at six months; and at nine months, reconstruction of her left club and rectum, which was not properly formed, took place.
In between those operations, she developed bronchitis, then pnuemonia, spending weeks at the KK Women's and Children's Hospital.
Apart from organ complications, babies with Antley-Bixler syndrome have a flat forehead and bulging eyes, and abnormally long and knobbly or spider fingers.
There are about 6,000 to 8,000 rare diseases worldwide. The number here is not known as the Ministry of Health does not keep track of it.
The cost of En Ning's operations alone amounts to $70,000, with subsidies.
The Kangs, who live in a four-room HDB flat in Yishun, have a debt of about $30,000 "and mounting". En Ning is awaiting the right time for an operation to correct her prematurely fused skull bones, says Mr Kang.
As rare disorders are often life- threatening, patients need a host of treatments, operations and therapies. So their families rack up hefty medical bills.
Mr Kenneth Mah, 42, vice-president of the Rare Disorders Society (Singapore), says living expenses alone for a child with a rare disease averages $2,500 a month for essentials including special milk, tubing and medication.
Besides being in financial straits, families struggle emotionally too - in the face of misunderstanding from strangers and insensitive relatives.
Freelance IT consultant Alex Tan, who is in his 40s, was once investigated by the police for suspected physical abuse of his daughter. Grace, four, has Pyruvate dehydrogenase complex deficiency, which means she lacks muscle tone, among other things.
One day, at 10 months old, the little girl's right arm must have flopped out between the slats of the cot.
"I think someone could have walked against her arm and dislocated it at the elbow," says Mr Tan.
"She must have been in pain for two or three days but we didn't know that because she was crying most of the time," he recalls.
During a hospital visit later, doctors discovered the dislocated arm.
"I was investigated by the police for possible abuse from a depressive parent," says an indignant Mr Tan.
Explaining Grace's condition, Dr Derrick Chan, head and consultant of neurology service at KKH, says this is a "rare disorder of the power source of the body's cells, the mitochondria".
"Patients are unable to use sugar properly. This results in injury to the brain and other organs that need high energy," he says.
A special diet, called the ketogenic diet, lets children like her use fat as an alternative fuel source.
Patients also cannot swallow well.
"A normal baby can finish half a bottle of milk in 10 minutes. Grace took an hour because she choked most of the time," recalls Mr Tan.
Add to the emotional stress, social stigma.
Mr Mah says he knows of an incident where a stranger's blunt words hurt a mother whose son has Cornelia de Lange syndrome, which shows clearly in facial deformities.
"A stranger asked her whether her son could walk, eat and speak. She said, 'No'. The stranger said, 'Never mind, have another baby. The next one will be normal.'"
The deepest cut can come from those closest to you.
Secretary Ann Lee, 39, recalls a relative saying to her: "Why didn't you check? Could this not have been detected before the baby was born?"
Her younger son, Yihong, has what doctors call "global developmental delays", a lower intellect for his age.
He is three years old but has a mental age of a 14-month-old, wears 800-degree glasses and says only one word: "There".
Parents who choose to soldier on with their special babies say their children give them the strength to carry on.
Project engineer Frederick Seah, 38, and his wife Rebekah Choong, 36, a finance analyst, have two daughters, Beth, nine, and Danielle, five.
Danielle has one of the most severe forms of spinal muscular atrophy from a missing gene.
KKH says it sees three or four cases of such cases a year.
Danielle is on a ventilator round the clock. And because of reflux, "meals can get into the airways and into the lungs, and her lungs may collapse", says Ms Choong. This happened when she was eight months old.
"One day, she vomited and food came out through her mouth and nose, and her lungs collapsed," she recalls, adding that she has been tube-fed via her abdomen since.
Muscle weakness means she cannot smile but her eyes light up when she watches Sesame Street and Disney Channel cartoons in the family's five-room flat in Simei.
In five years, Ms Choong and her husband were asked thrice: "Do you want to resuscitate her?"
Mr Seah, who quit his job last week to look after her full-time, says they could not have made it so far without the help of their friends.
They have come to a "juncture" and realised the answer to resuscitation questions: As long as her child wills it, they will fight alongside her, says Ms Choong.
When SundayLife! visited them on Tuesday evening at KKH, Danielle was warded for high pulse rate.
Her hospital stays have become more frequent, says Ms Choong - from once in about three to six months to monthly since last December.
Mum and helper take turns to stay overnight, sleeping on a chair, she adds.
Statistics online put Danielle's lifespan at one year. But her four "bonus" years so far are proof that she cannot deprive her child of hope.
"What if a miracle comes up?" asks Ms Choong. She adds: "I realise life is not about buying a house or having smart children. It's about living through challenges and supporting one another, and this child."
The gift from his frail daughter is strength for himself, says Mr Seah. "It's not that I feel invincible but we're not fearful when it's time to say goodbye."
Where to seek help
Centre for Enabled Living: One-stop centre for information on help schemes for caregivers, tel: 1800-8585-885, e-mail: schemes@cel.sg, website: www.cel.sg
Club Rainbow (Singapore): For emotional support by a case worker, tel: 6377-1789, e-mail: contact@clubrainbow.org, website: www.clubrainbow.org
Star PALS: Paediatrics palliative care service by HCA Hospice Care, tel: 6251-2561, e-mail: starpals@hcahospicecare.org.sg, website: www.starpals.sg
Rare Disorders Society (Singapore): Non-profit parents' support network, website: www.rdss.org.sg To donate, make cheque out to Rare Disorders Society (Singapore) and mail to 43 Hindhede Walk #07-08, Singapore 587973
eveyap@sph.com.sg
If you are taking care of a child with special needs and would like to share your experience, write to suntimes@sph.com.sg
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