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By Zureena Habib
After three months in the high dependency ward at KK Women's and Children's Hospital (KKH), baby Shyann Tan is home - in time for Christmas.
Her mum, Mrs Angela Tan, counts her blessings for this glad tiding.
On having Shyann home again, Mrs Tan said: 'God has answered my prayers.'
However Shyann, who is only nine months old, still has a long battle ahead with her rare congenital - or inherited - affliction known medically as Congenital Disorders of Glycosylation (CDG).
This group of genetic diseases robs an infant of the ability to produce complex carbohydrates, or glycoproteins. Cells in the body require these building blocks to function properly.
CDG also hits the immune system, making the child susceptible to infection. Shyann has a hole in her heart and her gastrointestinal system and eyes are weak.
While in hospital, she had heart surgery to fix the hole in her heart.
'She is a fighter,' said Mrs Tan, 35, a housewife, of her third child.
Shyann was discharged on Nov 19. There has been only one other diagnosed case of CDG in Singapore. In 2005, baby Satish Ahrumugam died at the age of two after losing his fight with CDG.
However, doctors now believe that Mrs Tan's second child, Ransel, who died when he was only 42 days old during open heart surgery in 2006, might have had CDG.
It took several examinations and tests by six doctors before Shyann was diagnosed with CDG in August this year.
While Mrs Tan's Christmas wish has come true, Shyann still needs the help of a ventilator and a dehumidifier to help her breathe.
Mrs Tan and her husband Alan, 38, who is self-employed and in the transport business, said that they would have gone for prenatal genetic screening had they known that they were carriers. Both parents must have those genes for a child to get CDG.
Doctors have since told them they have a 25 per cent chance of having children with CDG.
Their first child, Shanise, now seven, does not have CDG.
Ransel's death led the Tans to monitor Shyann's infancy carefully.
Alarm bells started ringing when she was four months old. The couple were troubled by her weight - she was only 3kg, not much heavier than her birth weight of 2.9kg.
In July this year, they took Shyann to KKH where she was diagnosed with CDG.
'Shyann suffers from CDG Type 1A and has problems affecting different organs such as her heart, her gastrointestinal system and her eyes,' said Dr Tan Ee Shien, a consultant at KKH's department of paediatric medicine.
| Parental support |
Rare Genetics Network Singapore was founded by Ms Dhevaki Sokkalingam after her two-year-old son, Satish, died from CDG.
The website raregenes.org was` created for parents of children who have rare diseases such as CDG to create more awareness of these diseases.
The website has tips to help parents deal with rare diseases, parents' stories about children who have rare diseases as well as a newsletter.
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Apart from forking out $144,000 for Shyann's hospital stay, the Tans scraped together whatever they had to pay for the ventilator and dehumidifier that Shyann needs.
On top of their financial woes, the Tans also worry about Shyann being unable to digest milk. Babies with CDG are unable to digest milk and pass the milk out within 10 minutes.
Hence, such babies are given a special formula and they have to be fed intravenously for an indefinite period.
'It is like facing a time-bomb every day. There is nothing that can be done to correct the disorder in her genes,' Mrs Tan said.
The couple, who are devout Catholics, have found comfort in prayer.
Mrs Tan and the mother of baby Satish have formed a bond due to their experiences.
Satish's mother, Ms Dhevaki Sokkalingam, 35, a housewife who now runs the website raregenes.org, said: 'The last time he came home, I knew it was going to be the last time.
'He was so happy, he smiled, laughed and he even sat up. He had done everything he could have done.'
Satish had CDG Type 2 with an unknown subtype. It took doctors 18 months to diagnose his condition.
The two mums are now writing a children's storybook on CDG to create awareness of this rare disease. MsSokkalingam echoed Mrs Tan's sentiments when she said: 'One should be thankful when one has a child. A child is a very special gift from God.'
zureenhr@sph.com.sg
CDG affects baby's normal growth
Congenital Disorders of Glycosylation (CDG) is a group of disorders that affects one in 40,000 newborns.
Apart from Shyann and Satish, there are no known incidences of CDG in Singapore as the disease is rare.
Both parents have to be carriers for CDG to be passed on to their babies, which was the case for both Shyann and Satish.
The disorder causes the components of glycoproteins - sugars and proteins - which are required for many vital bodily functions to fail to form properly.
When this happens, food cannot be absorbed. Infants with CDG will thus be unable to gain weight and may become critically malnourished.
There are 18 different subtypes of CDG but there is currently treatment for only one subtype - CDG Type 1B.
CDG Type 1A, which is the type Shyann has, is the most prevalent, occurring in 70 per cent of CDG cases.
This subtype affects the different organs, especially the liver and the central nervous system (brain and spinal cord). If psychomotor ability is impaired, affected children have difficulty sitting.
Dr Tan Ee Shien, a consultant at the department of paediatric medicine at KK Women's and Children's Hospital, said that Shyann's heart, gastrointestinal system and eyes are among her organs affected.
Dr Tan said about 20 per cent of CDG victims die in infancy. On the other hand, many patients with proper lifelong care live into adulthood.
Extensive tests are needed to detect the symptoms of CDG at birth but there have been cases of CDG detected only in adulthood in countries such as the United States.
zureenhr@sph.com.sg
This story was first published in Mind Your Body, The Straits Times, on Dec 18, 2008.
For more The Straits Times stories, click here.
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