Banking on hope

Star: The CT scan results for the four-month-old boy looked suspicious. They showed bleeding in the head, caused either by a fall or abuse. Doctors queried Winnie Chan, the baby’s mother, if either had taken place. She denied it, but was deeply troubled by the questions.
She had brought Chang How Nam to the hospital because he had difficulty swallowing, could not grip with his hands or initiate movements.
It was not until Chang was seven that his condition was diagnosed. The cause: glutaric aciduria type I, a rare genetic disorder in which the body is unable to process the amino acid lysine, hydroxylysine and tryptophan properly. He suffered brain damage that resulted in mental retardation.
Some people with glutaric aciduria develop bleeding in the head (subdural haemorrhage) and the bleeding can be mistaken for acts of child abuse, said Dr Choy Yew Sing, chief investigator of the Health Ministry’s pilot project, Newborn Screening for Inborn Errors of Metabolism (IEM), which started on Sept 1.
“Bleeding could be mistaken for acts of child abuse,’’ he explained.
How Nam was misdiagnosed due to the general lack of expertise in Malaysia. As he grew, he could not sit, crawl or call his parents. Now, at 12 , he cannot stand, walk, speak or swallow food because the right diagnosis came too late.
“I was told that if his condition had been known earlier, he would be able to talk and walk,” said 47-year-old Chan.
She had brought her son to many specialists and ended up in a neuro clinic. He was treated as a cerebral palsy case but his condition continued to worsen.
“I could not accept it. He was normal until he was four months old. I insisted that the doctor carry out an MRI scan for him because he was not getting better despite all the treatment,” she said.
The neurosurgeons then decided to refer her case to a geneticist. Special blood and urine tests were done. That was when his condition was finally diagnosed, in 2004.
“I was so relieved when we finally found out what was really wrong with him,” she said.
How Nam now takes 10 different types of medication and vitamin supplements. His condition has affected his capacity to swallow, so an opening is created at the abdomen to feed him.
“I am glad that the Health Ministry is looking into the possibility of making IEM screening available to all newborns in future. Then cases such as mine could be prevented,” she said.

Tan Yee Ping was a normal, healthy baby until he started having fits at around four and a half months, recalled his 57-year-old retiree father C. L. Tan.
“He would have more than 20 fits a day and it was impossible for us to feed him. We saw a lot of doctors and they would give medication. But the medication did not stop the fits. It only reduced (the frequency),” said Tan.
“The doctors said he was epileptic and told me that when his immunity is stronger by the time he is 15, the fits might go away,” he said.
However, they did not. Yee Ping grew up thinner and smaller than most children his age. He could not sit or stand, and he salivated all the time. Every two or three hours, he would need to lie down because he would be tired.
“Yee Ping has run out of ‘battery,’ the teachers would say and let him rest,” recalled Tan.
His condition shifted between being as soft as jelly when he was not having a fit, and stiff when he had one, Tan said.
Two years ago, when Yee Ping was 18, Tan brought him to see a paediatrician in Universiti Kebangsaan Malaysia Hospital.
Coincidentally, Yee Ping had a fit at that time and the doctor saw his seizure. He said that it was not epilepsy but some kind of neurotransmitter disorder due to the lack of certain enzymes, said Tan.
“He referred me to a specialist at KLH," he added. The specialist had just returned from overseas and had set up a special clinic called the metabolic clinic. I didn’t know what metabolic disorder was,” he said.
The geneticist saw his son, asked him to walk and told Tan that it could be a neuro-transmitter disorder. He took blood and urine samples and wanted to admit Yee Ping the following week to take some spinal fluid.
“One of my relatives told me that his child became abnormal as a result of spinal fluid being removed from him while others told me that it would be a high risk procedure. I was troubled. I had to make a decision and I decided to admit Yee Ping,” he said.
After the spinal fluid was removed, Yee Ping felt dizzy, vomited and could not sit up, the side effects from the procedure. He stayed in the hospital for five days before he was discharged.
Test results showed he suffered from tetrahydrobiopterin deficiency, a rare disorder that increases the blood levels of a substance called phenylalanine.
The specialist changed all the medication except for the one that treated seizures. The treatment helped him produce the enzyme that he lacked.
He suffered side effects for more than a month due to the change in medication but within six months, Yee Ping, who had never walked since he was born, began walking.
“He is literally a walking miracle,” said Tan, tears welling up in his eyes.
“He became physically stronger and more alert, unlike before, often in a daze due to fits and medication. No more floppy eyes, sleepiness or frequent fits. Now he is undergoing speech therapy,” he added.
From 20 fits a day to about six when Yee Ping was under medication, it is now down to once or twice a year.
When asked what he hopes for the future, Yee Ping, with his slurred speech, said he wants to be a policeman.