WE often hear of parents who have battled for their babies when they are born different or are laden with illnesses that no one seems to know much about.

We hear about how they grapple with the shocking news and how devastated they are when the prognosis is bleak. The doctors find it difficult to explain something that’s new and unusual even for them, and the worse part of it is to tell parents that the chances don’t look good.

In such instances, the rest of the family seems to be relegated to the background. They become people who seem to hover around you, far enough to be out of the way but near enough to catch you if you stumbled.

At least that was how it was for me when my first-born son was diagnosed with West Syndrome all those years ago. But that story has been told.

A few years ago, I met a grandmother who cared for her ailing eldest grandchild, Aminisha.

Her granddaughter’s plight spurred her to start a group called the Malaysian Rare Disorders Society (MRDS).

“The problem with rare diseases is that there is a lack of accessibility to drugs and treatment because not much is known about the disease,” said Datuk Hatijah Ayub, MRDS president and founder.

“It is also generally very expensive to do the tests. Most of the time we have to send blood samples overseas because there is a lack of medical facility and professionals specialising in rare diseases such as clinical geneticists and genetic counselors.”

What constitutes a rare disease? In the United States, the Rare Disease Act (2002) defines rare disease strictly according to prevalence, specifically any disease or condition that affects about 1 in 1,500 people. In Japan, it is 1 in 2,500 people. In Europe, it is 1 in 2,000 people.

According to MRDS, it is 1 in 4,000 people in this country. “The thing is, one particular disease may be rare but there are so many types of rare diseases out there that parents are baffled at how there are so few people who can help them. So many of them feel so helpless and don’t know where to go or how to begin to help their ailing baby,” said Hatijah.

“Aminisha was a beautiful baby girl. We had all looked forward to her birth. But when there was a long delay in presenting the baby to us after an emergency caesarian birth, I remember thinking that it didn’t augur well at all. True enough, the baby displayed abnormal fat pads on her bottom while her ears were set a little low.”

Hatijah said these were symptoms that doctors could have easily missed but didn’t. Aminisha was diagnosed with a rare disorder called Congenital Disorders of Glycosylation (CDG). “

We were devastated. She looked so normal and perfect at birth that I had wondered if the doctors made a mistake,” said Hatijah. “But since there are so many categories of CDG, we decided to have a second test to be done just to be sure.”

Blood samples were sent to Australia for genetic testing and profiling. Results came back positive two weeks later. Aminisha was diagnosed with CDG Type 1a. “We all wept,” she said.

Aminisha had the dubious honour of possibly being the first confirmed case of CDG Type 1a. It was formerly known as carbohydrate-deficient glycoprotein, a group of disorders that affects a process before they can be effectively utilised. However, in Aminisha’s case, a malfunction in the process brought the CDG on. There are many types of defective enzymes giving rise to the different types and levels of severity in CDG.

“It was so hard to believe it,” Hatijah said, tearing as she remembered that day. “The prognosis meant that Aminisha had a life expectancy of just 12 months. She spent more time in the hospital than at home.

“Everything did not go well from the start. Though she was of normal birth weight, she failed to gain weight. She had feeding problems and could not suckle well. Even the mere act of suckling strained her. Jasmin, my daughter, expressed her breast milk and fed Aminisha via a feeding tube.

“During the confinement period and before the first ante-natal check-up, a visitor commented that Aminisha looked very pale. Checks at the hospital showed that her red blood cells count was very low.”

X-rays and other tests showed that Aminisha also had fluids around her heart. So she needed to undergo fluid extractions to relieve the stress. She also had to have blood transfusions more than once. Nothing worked. She just failed to thrive.

More bad news followed. Tests on Aminishah’s eyes showed impaired vision. Her eyes were unable to focus and would roll about. She seemed deaf as she did not react to loud sounds.

During the confinement period, Jasmin cared for her baby 24/7. Hatijah cared for Jasmin and her family while they dealt with ordeal. Everyone was on edge all the time.

“I remember how my daughter was afraid to sleep just in case her baby slipped away in those few moments of rest,” Hatijah said, before adding: “It was a tough time for all of us.”

Next week: How the family battled on.

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