No tears, smiles from little Khalid

PHOTO: No tears, smiles from little Khalid

PUTRAJAYA, Malaysia - Without his feeding tube, Mohammad Khalid Mohammad Imran looks like any other 3-year-old, but the toddler is actually fighting for his life.

Khalid suffers from a disease called Tay-Sachs, a genetic disorder that causes the absence of a vital enzyme known as Hex-A.

This missing enzyme causes the body cells to become damaged, resulting in progressive neurological disorders.

Tay-Sachs is so rare in the country that he is the only one known to have the disease, which mostly afflicts children of Eastern European Jewish ancestry.

Despite being fully aware that Khalid might not live beyond his 5th birthday, his parents, Mohammad Imran and Asrinayanti Mokhtar, still harbour hope that a cure would soon be found.

"We want to share our story with doctors and parents, both local and overseas.

"We want to know the latest discoveries and what we can do rather than just wait for the disease to claim our son's life," said Imran.

He said when Khalid was born, everything seemed normal.

When he could not walk by his first birthday, he thought Khalid's development was slow and was not particularly worried.

"However, when he could not sit unassisted when he was a year old, we felt something was amiss and took him to the hospital."

But Asrinayanti added that at that time, Khalid was able to push himself in a walker and bubbled with joy like other toddlers.

"Now he rarely smiles and we no longer hear him cry.

"When he was healthy, we did not have to tease him to make him laugh and his loud cries would bring neighbours to our door," she said.

Doctors were at a loss as to what was wrong with Khalid.

It was only after his blood samples were sent to Australia last year that he was confirmed to have Tay-Sachs.

Last month, Khalid contracted a lung infection, which is an end-stage symptom of the disease.

"Doctors have told us that he is in a critical condition. They asked us to be prepared but my son has a very strong will.

"Despite the doctor's prognosis that the lung infection or pneumonia is among the final signs before a sufferer succumbs to the disease, my son just got better."

Imran was also encouraged by the fact that despite being confined to bed, Khalid's muscles were still strong and he did not develop bed sores.

Kuala Lumpur Hospital chemical geneticist Dr Ngu Hock Lock said there might be other Tay-Sachs sufferers in the country.

"In Kuala Lumpur, there is only one case and I am not aware of similar cases in other states.

"However, it is possible that other sufferers have been misdiagnosed as having cerebral palsy," he said, adding that the nearest countries that could conduct the blood test were Australia and Taiwan.

"Confirmative test for Tay-Sachs is not available in this country."

Dr Ngu said the major difference between both diseases was that cerebral palsy was a non-progressive brain injury sustained when a baby's brain was developing.

The sufferer's condition would remain the same or improve, while Tay-Sachs was a genetic disorder which caused deterioration of mental and physical abilities, usually resulting in death by age 4.

He said other symptoms of Tay-Sachs included cherry red spots in the retina and an enlarged liver and spleen.

"At the moment, there is no approved treatment for the disease. There is only supportive treatment like physiotherapy."

He said experimental treatments like enzyme-replacement therapy using a chemical chaperone to deliver the missing enzyme into cells and stem cell therapy were still in its animal testing phase.