WHEN a baby is diagnosed with a disease and given a few months of life, it isn’t just the parents who are devastated. Everyone in the family is affected.

That was how it was for Datuk Hatijah Ayub’s family when her granddaughter, Aminisha, was diagnosed with a rare disease called Congenital Disorders of Glycosylation (CDG) Type 1a.

Last week I wrote about how this grandmother felt when her first grandchild became progressively unwell from birth.

Hatijah recalled how shocked her daughter, Jasmin, was following the diagnosis. Jasmin and her husband, Remei, were in their 30s when they had Aminisha. They would not have been surprised if the baby had Down’s Syndrome but not CDG.

Jasmin was angry and resentful initially. She asked herself: “What do I do now? Why me? We have headlines in the newspapers about heartless people abandoning defenceless newborns and here I am yearning for a newborn I can protect and bring up, but it’s not to be?”

During her confinement, she cared for her baby 24/7. When Jasmin returned to work, Hatijah took over.

“Jasmin was torn between caring for a sick baby and trying to lead a relatively normal life at work,” said Hatijah. “She didn’t want to burden her friends with her emotional load. Besides, how much can someone console you if you tell them your baby will soon die?”

So the parents’ routine centred on Aminisha’s health. They tried to have some semblance of a normal life but that was difficult. Aminisha failed to thrive. She was in and out of hospitals. No treatment or medicine could help her.

“One evening, Jasmin had just fed Aminisha at the hospital. As she gently set her down, their eyes locked and Jasmin saw the light in her eyes dim. Then she stopped breathing,” said Hatijah.

“My granddaughter passed away. Just like that. She was seven months old.

“Jasmin was very calm about everything. Even after the funeral, she seldom allowed herself to cry openly. I took the cue from her. I think we both put on a brave front to be strong for each other.

“As the grandmother, I had immeasurable love for the baby. I made dresses for her, stitched all the smocking pieces of different lengths so that she could grow into them. When Aminisha died, a part of me died too.

“If that was how I felt, imagine my daughter’s anguish and the pain.”

A few years later, the couple wondered about trying for another child. With CDG being a recessive inherited disorder, the risk of having a second child with CDG was one in four. Genetic counselling provided information and support for couples like Jasmin and Remei.

“Jasmin was very hesitant about trying again,” Hatijah said. “But after much thought and discussion, they all decided that such is life. There is no guarantee.”

Hatijah supported and encouraged her daughter to go with what she felt was best. Three years after Aminisha’s death, Jasmin was pregnant again.

“This time, Jasmin quit her job,” Hatijah said. “Life was simply too short. Jasmin felt that work had stolen precious moments she could have otherwise spent with Aminisha. She wanted this experience to be different.”

Indeed it was. The second child was a healthy boy named Ali Bahatiar. He did not have CDG Type 1a, but he was a carrier. During the pregnancy, Jasmin underwent a prenatal diagnostic test called the chorionic villus sampling to determine chromosomal or genetic disorders in the foetus. Such genetic testing, done between 10 and 12 weeks of pregnancy, gives parents the option to terminate a pregnancy should the results be positive.

Fortunately, the pregnancy carried to full term without complications. Nonetheless, Hajitah said her grandson went for regular checks to monitor his growth and development.

A few years later, Jasmin became pregnant again. Worried, they did the CVS test, which came back positive for CDG.

“Jasmin decided to keep the baby,” said Hatijah. “It was just not fair to terminate the pregnancy just because you discovered that your baby was not normal. We decided to take our chances.”

Hatijah felt they were better prepared this time and they had support from the family and the medical team. Ali Zulfiqar was a breach baby delivered via caesarian section.

He suffered in similar ways as his late sister. For the parents, though it was different, memories of Aminisha made it seem the same. Despite their best efforts, Ali passed away at five months.

Hatijah’s experience with her grandchildren and those years of watching how parents grappled and coped with the ordeal of having a baby with a rare disease spurred her to start Malaysian Rare Disorders Society.

Said Hatijah: “So much needs to be done for people with rare disorders — from reducing the cost of medication to acceptance into mainstream schools and palliative care. Parents also need help and counselling. Having a child with a rare disorder can drain you emotionally and financially”

Adding, she said: “There has to be greater awareness on the challenges and issues so that people with rare disorders are not shunned, ignored or marginalised.”

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