It’s a boy again. For anyone else in boy-centric Asia, this sort of news is usually a cause for celebration.
But for the 30-something teacher, the stakes are much higher. Carrying a male foetus with XY genes means gambling with both her life and the baby’s. She carries the gene for Ornithine Transcarbamylase (OTC) deficiency, a rare X-linked disorder that causes a buildup of ammonia, a by-product of protein, in the body. A son has a 50 per cent chance of inheriting the disease, while a daughter has a 50 per cent chance of being a carrier.
So far, the woman has lost the bet each time, including this one. Her two previous pregnancies were both boys, each diagnosed with OTC deficiency. Both died just days after birth.
“From time to time we do see this sort of patient. It’s very tragic. You see the suffering,” said Dr Ngu Lock Hock, consultant clinical geneticist and head of the genetics department at Kuala Lumpur Hospital (HKL).
He told Bernama that the woman, who declined to be interviewed, had hoped that the third time would be the charm. He would have to dash her hopes.
With a sigh, he added, “We need to have an open dialogue on what to do.”
Like other women before her, she faced a difficult choice, whether to terminate the pregnancy while it is still in the first trimester - before 120 days when restrictions are fewer and risks lower – or carry the foetus to term and endure the challenges that come with it.
The final decision, Dr Ngu was careful to stress, would be up to her and her husband.
INFORMED CONSENT
Contrary to public belief, abortion is legal in Malaysia, albeit with some conditions. While abortion on demand is illegal, under Section 312 of the Penal Code, there is an exception to it as well. It states that abortions are permitted if a medical professional “in good faith” has determined that the pregnancy endangers the physical and mental health, and life of the mother. Ministry of Health (MoH) guidelines published in 2012 put the cut off point by 22 weeks of gestation.
Bio-medical Law and Ethics expert Dr Kuek Chee Ying told Bernama that for Muslims, the same rules apply except that they usually adhere to the 120 days rule, which is when ensoulment is believed to have occurred.
“After 120 days, it is prohibited to abort unless this termination of pregnancy is to save the mother’s life because of the severity of the disability of the embryo,” she said.
When it comes to genetic diseases, the decision is not clear-cut either. Terminating a foetus that tested positive for thalassaemia may be easier, as the disorder is life-long and can be incapacitating, but abortions for congenital disabilities such as Down’s Syndrome are more difficult to justify as the latter is not incompatible with life.
Dr Kuek, who is a senior lecturer at University of Malaya Faculty of Law, said there were several arguments in trying to decide whether to abort a disabled foetus.
“With genetic abnormality, some will actually argue that even parents, they themselves have the moral obligation to prevent this genetic disease, to prevent the suffering of the foetus,” she said.
“To counter this argument, those opponents will say that, ‘are you trying to say that there must be some so-called precondition to become a member of your family?’” she said.
Other ethicists argue this was akin to eugenics, a scientifically inaccurate belief that the human race can be improved via selective breeding.
Nevertheless, proponents maintain women should be the final voice in deciding what they are able to take on as their lives would be the most impacted.
Having a disabled child can be debilitating to the family, especially the mothers who usually end up doing most of the caregiving responsibilities. Many have reported mental distress while caring for their disabled child, even with support.
One of them is 49-year old Nazellynakmar Kamarudin, fondly known as Lyn. Mother of five, three of whom died in infancy, she is the first woman in Malaysia to donate her bone marrow to her daughter Marissa Hani Mohammed Zubir, who had adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID), a rare genetic disorder more popular known as ‘the bubble boy disease.’ Bone marrow transplant is the only known cure for the disease.
Come August, it will be a decade since she lost Marissa, who died at the age of two, more than three months after undergoing transplant surgery in 2015. Two of her children before Marissa – Sofea Hani and Muhammad Zulhakimi – had likely died from ADA-SCID as well but wrongly attributed to Sudden Infant Death Syndrome (SIDS) at that time.
She told Bernama the mental stress was especially awful. Having ADA-SCID means Marissa had no immune system and could not fight off any infection. For almost two years, their family lived in isolation.
“Caring for a special needs child isn’t easy. It can be overwhelming, as both you and the child are confined. The child has limited social interactions, and you experience the same isolation," she said.
Consultant obstetrician and gynaecologist Dr Farah Leong Rahman told Bernama that from her experience working in the public sector, most women chose to end pregnancies if prenatal screenings found severe disabilities in the foetus.
“It's a tough decision, yeah. It took a lot of time counselling. Basically we do things like MDT – multidisciplinary team approach – where the OBGYN sits down with the paediatrician, with the couple and with a psychologist and we talk about the potential pros and cons,” she said.
But there are exceptions.
CASTING THE DIE
Despite allowances in the law for abortion, some will decide against it due to personal, religious and cultural beliefs, as other religions can be more restrictive about abortion. Alternate reasons could be pressure from family and society.
Another issue is time. Terminating pregnancies are time-sensitive and it can be hard to take the final step in such a short time frame. Prenatal tests to detect genetic conditions, such as Chorionic Villus Sampling (CVS), are done between 10 to 12 weeks plus a week or so for results, which leaves the woman about a month to decide. The test also adds about 1 per cent to a woman’s risk of miscarriage.
The process to secure an abortion in public hospitals may also take longer as MoH guidelines require two medical specialists to agree, compared to one in private hospitals. There is also a lack of awareness among religious and social leaders, and the public on abortion, not realising that it is part of a woman’s healthcare or that it is allowed under the law.
“The reality is that there are many obstacles that stand in the way of a woman and her reproductive right to seek a safe abortion, such as religious and social stigma or economic status – all of which will undoubtedly influence her options and decisions,” said Eden-Joy Kalom, executive director of the Federation of Reproductive Health Associations of Malaysia (FRHAM).
There is no data on the number of abortions or the reasons for them. However, in 2015, FRHAM estimated 90,000 abortions occur in Malaysia annually, not including illegal ones. Eden added the number is likely an undercount.
In the end, the unnamed woman decided to keep the pregnancy. Whatever the reason for her decision, the multidisciplinary team would have to explain the potential implications, and what they need to prepare for their child’s health needs during his lifetime.
The most glaring concern is the treatment cost. While the government does subsidise treatment, not everything is free. Some specialists and procedures are only available in the private sector, which can be costly. Parents will then need to fund-raise to continue treatment.
Treatment for OTC deficiency includes medication and strict low-protein diets. Survival rate depends on symptoms onset, with 30 per cent surviving to five years with treatment, according to studies. Liver transplants may be the only permanent solution.
Other than costs, preparation requires drastic lifestyle changes. The parents will have to be able to provide round-the-clock care, including driving and accompanying their son for treatment.
Dr Ngu hopes the couple won’t regret their decision.
“They need strong support systems. I've seen many parents—mostly mothers—having to resign from their job. In many cases, couples separate or divorce. It's very common," he said.
"I always tell parents that their lives will never be the same. They will face many responsibilities, burdens, and challenges."
RIGGING THE PLAYING FIELD
There are no guarantees in life but there are ways to prevent and help parents have a healthy child, or at least to minimise the effects of the genetic disorder. Methods include In-Vitro Fertilisation (IVF) and Pre-Implantation Genetic Diagnosis (PIGD).
However, they are not easily accessible. Although public hospitals offer these services, resources are limited and cannot meet the high demand. Private hospitals offer faster and better care, but the cost can be prohibitive.
Private hospitals also offer another type of screening—the non-invasive prenatal test (NIPT). While it poses no risk of miscarriage, it costs thousands of ringgit. This test is not diagnostic but serves as an indicator of potential issues.
Dr Farah, who is also a fertility specialist at Sunway Medical Centre Velocity, told Bernama that the cost was worth it to have a healthy child.
“Yes, it’s expensive, but Malaysia still offers some of the most affordable IVF treatments compared to other countries, with the same technology,” she said. “If you can prevent suffering, why not?”
Malaysia provides tax breaks for fertility treatments.
Even if she could, having more children is no longer on Lyn’s agenda. Remembering how Marissa suffered, and how she lost three babies breaks her heart.
“Imagine, she’s had needles stuck in her since just five days old. Like here,” she said, pointing to the back of her hand. “Veins, gone.”
She then pointed to her arm. “And here. All damaged.” She shook her head.
“Her legs too — she was stuck everywhere. She even had needles in her head. She looked like she was wearing a traditional bridal headdress,” she said.
What Lyn wants now is for the government to include a test for immune disorders, such as the T-cell receptor excision circle (TREC) test, for newborn babies. Early diagnosis would prevent severe complications from exposure to all viruses and bacteria, and provide early treatment. It also gives parents time to find a bone marrow match.
Mostly, she hopes the screening will save lives so they can grow up and experience life the way Marissa never had a chance to.
“The SCID babies diagnosed after Marissa have survived—they’re out and about, they go to school, and are healthy,” she said.
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