Five-year-old Issac has Rubinstein Taybi Syndrome (RTS), also known as Broad Thumb–Hallux but holding his hand is Carmen Chai, his amazing mummy who handles it all.
WORDS CHRISTEL GERALYN GOMES
Five-year-old Issac has Rubinstein Taybi Syndrome (RTS), also known as Broad Thumb–Hallux. A genetic disease, RTS is rare and involves various physical and mental anomalies. Children with the disease have broad thumbs and toes, are short in stature, have distinctive facial features, microcephaly (small head) and varying degrees of intellectual disability.
Only 1 in 125,000 children are born with RTS. Issac was only diagnosed with RTS last year, at the age of four.
The Happy Anticipation of Pregnancy
Like most mummies, Carmen Chai waited for her baby boy to come into the world with much joy and excitement. “Issac is my first child. I had a smooth and happy pregnancy. I even went through many tests and they all came back with good results… I was expecting a healthy, clever and handsome baby boy!”
Issac says “Hello!” to the World
On 11 May 2011 after eight hours of labour, Issac said hello to a brand new world. “Nothing could describe our joy when we first saw Issac!” says Carmen.
The first few days were normal. Like many mums, Carmen had some difficulty breastfeeding, and baby Issac failed his first hearing test, but Carmen’s doctor said that was nothing to worry about as many newborns do.
For most new mums, things get easier as they get to know their baby a bit better. For Carmen, her ordeal was only beginning. “Issac came home with us on day four. We struggled to feed him. We tried different bottles, different types of milk… even different nannies. He just refused to drink and finally, he was admitted to the hospital for dehydration after a week of being home with us.”
Issac is Hospitalised
At the hospital, Issac went through a series of blood tests and scans before he was finally referred to another hospital for genetic testing. It was an anxious time for both Issac and his family.
And then, the results were in – Carmen recalls the moment a doctor said the words, “Your son is abnormal”. Her blood ran cold. “My tears couldn’t stop falling. In that moment, I felt like it was the end of the world,” she says.
Carmen’s first thought was to ask her doctor about Issac’s lifespan.
The question of whether Issac could survive in a mainstream society plagued her. At this point, Carmen was watching her helpless two-week-old child scream as he had tubes inserted into his nose for feeding, and down his throat for suction. Issac would vomit all the time from gastric reflux as well.
A Long, Dark Road
Carmen knew very quickly that she would have to learn how to do many of the things the nurses were doing herself. While other mummies might be thinking about their guest lists and planning their child’s Full Month party, Carmen was thinking about other things. “I knew in order to get Issac discharged, I must learn how to insert the tube into his nose. I had to learn to suction, do CPR, prepare his medicine, check his oxygen levels and, plan his therapy sessions, all while I looked for alternative medicine.”
When Issac was discharged at two months, as expected, Carmen had to deal with feeding her son by tube every two hours. She dealt with syringes, handled his constant vomiting, eczema, and constipation. On top of that, there were trips to the hospital to be made every day.
When she could find a spare moment, Carmen held her child in her
arms in busses while she travelled to every TCM clinic she was recommended. “I was running everywhere to get hope back, but I was continually disappointed,” she says.
She recalls the depression slowly creeping in. Carmen began to often lock herself in a room with Issac, turning off the lights.
After battling with fear, loneliness and utter helplessness for a year, Carmen finally found a special needs group for mummies at the Rare Disease Society of Singapore. Finally, after what seemed like an eternity of darkness, Carmen finally felt less alone. “There I found many resources. There were workshops and experience exchange sessions and I knew I was not alone!”
The next step Carmen took was to get Issac into the Rainbow Centre – a school for special needs children. The first time she took Issac there, she stood in the middle of the entrance, watching. “I saw kids shouting, banging walls, drooling… it was so painful to see… My tears fell uncontrollably that day.”
By the time Issac turned three, he had been through three major operations – surgery to place a feeding tube through the skin and into the stomach, surgery to move an undescended testicle into the scrotum, and surgery for Gastroesophageal Reflux Disease.
Today, a happy Issac can run around and even swallow a bit of porridge! “Having a special needs kid is never easy,” says Carmen. “Every kid will have a different challenge or problem… some have physical challenges, some medical, some learning difficulties or behavioural problems. For a parent with special needs kids… you might not know how to help them, but you can always just be friendly, understanding or just smile or pat their shoulder silently.”
For Carmen, it’s the people around who have helped tremendously with their support, both financially and mentally. Today, people at her workplace describe her as “cheerful” and “determined”. Despite not earning much, Carmen has learnt how to cope for now.
“I can’t say having a special needs kid is a blessing, but through it, we are blessed by many angels around us. He opened up a new world to me – a new group of kind-hearted people and he makes us enjoy every little milestone that he achieves and I cherish every morning because he smiles at me. The future might have worries…but the present is amazing!” says this beautiful mum with profound inner strength.
Carmen now has a full-time caregiver to help take care of Issac so that she can work her full-time job.