When the 'unknown' strikes

Malaysian Rare Disorders Society (MRDS) president Datuk Hatijah Ayob lost two granddaughters to a rare disease known as Congenital Disorders of Glycosylationn Type 1A, which impedes normal growth and threatens tissues and organs.

"The rare disease patient sometimes has no one to turn to because research on rare diseases is so scarce due to the 'uncommonness' of the disease," she said.

"Fewer sufferers" also mean a lack of sources to refer to, but their small number could be deceptive as some are not willing to come forward. Others become reclusive when they discover that there is no cure.

There are also those who may not even be aware that they are suffering from a rare disease.

"Misdiagnosis can happen because some of the symptoms may be similar to other diseases," said Hatijah, president of an organisation with 50 members comprising of parents of children with rare diseases.

Sufferers and their families are being urged to cease being shy or even secretive.

By doing so they could push the medical fraternity to search for a remedy, or at least better treatment options.

Their plight would direct a bit more light onto the lonely journeys endured by the likes of 3-year-old Mohammad Khalid Mohammad Imrah who suffers from a disease called Tay-Sachs, a genetic disorder that causes the absence of a vital enzyme known as Hex-A.

The New Straits Times had reported that this missing enzyme harms body cells, 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.

About one in every 27 members of the Ashkenazi Jewish population carries the Tay-Sachs gene.

The A.D.A.M. Medical Encyclopedia explains that when both parents carry the defective Tay-Sachs gene, a child has a 25 per cent chance of developing the disease.

Carriers of the disease will not be sick but have the potential to pass the disease to his or her own children.

Nerve damage caused by the disease usually begins while the baby is in the womb although the symptoms, which include deafness, blindness, loss of muscle strength, delayed mental and social skills, usually appear much later, when the child is three to six months old.

Most children with Tay-Sachs do not live past the age of four or five as the disease tends to get worse very quickly.

It is not entirely depressing though. Patients with rare disease can lead normal lives with counselling and treatment, said Prof Dr Thong Meow Keong, a clinical geneticist at Universiti Malaya.

He said this was precisely what groups like the MRDS headed by Hatijah is trying to get across.

Some forms of rare disease, which may not yet have a cure, may yet be treated.

For example, a few genetic illnesses caused by faulty or mutant genes can be treated with stem cell gene transplantation techniques while enzyme replacement therapy can help reverse symptoms in patients with a particular enzyme deficiency.

A successful surgery can correct physical defects caused by congenital diseases or birth defects.

"But some treatments can be very costly, running into millions of ringgit a year just for one patient.

"Many pharmaceutical companies are not keen on funding research on rare diseases because they reason that any discoveries could only benefit a few people," added Hatijah.

Health director-general Datuk Dr Hasan Abdul Rahman said a lot of the researches done, such as those carried out in the universities, were backed by interest.

"We have several papers in the ministry on rare diseases and there may be a few studies going on but basically, it all depends on whether the doctors' interests and whether they want to research on the subject matter or not."