Kuala Lumpur: 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.
According to BERNAMA News Agency, 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. Dr Ngu Lock Hock, consultant clinical geneticist and head of the genetics department at Kuala Lumpur Hospital (HKL), emphasized the tragic nature of such cases and the suffering involved. He mentioned that the woman had hoped her third pregnancy would be the charm, but her hopes were dashed.
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. Dr Ngu stressed that the final decision would be up to her and her husband.
Contrary to public belief, abortion is legal in Malaysia, albeit with some conditions. Under Section 312 of the Penal Code, abortions are permitted if a medical professional determines 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. Dr Kuek Chee Ying, a Bio-medical Law and Ethics expert, highlighted that for Muslims, the same rules apply except they adhere to the 120 days rule for ensoulment.
When it comes to genetic diseases, the decision is not clear-cut. Arguments exist on whether parents have a moral obligation to prevent genetic diseases and suffering. Opponents argue against the notion of preconditions for family membership, likening it to eugenics. Proponents maintain that women should have the final say in deciding what they can handle, as their lives are most affected.
Having a disabled child can be debilitating to the family, especially the mothers who usually end up doing most of the caregiving responsibilities. Nazellynakmar Kamarudin, a mother who experienced the loss of three children due to a genetic disorder, shared the mental stress and isolation faced while caring for her daughter with ADA-SCID. Consultant obstetrician and gynaecologist Dr Farah Leong Rahman noted that most women opt to end pregnancies if prenatal screenings indicate severe disabilities.
Despite legal allowances for abortion, some women decide against it due to personal, religious, and cultural beliefs. Time constraints also play a role, as prenatal tests are time-sensitive. The process in public hospitals may take longer due to MoH guidelines requiring two medical specialists to agree. Awareness on abortion as part of women’s healthcare is lacking, creating obstacles for women seeking safe abortions.
In the end, the unnamed woman decided to keep the pregnancy. The multidisciplinary team would need to explain the potential implications and prepare for the child’s health needs. Treatment costs are a significant concern, as not all are covered by government subsidies. Lifestyle changes and round-the-clock care are also required.
Dr Ngu hopes the couple won’t regret their decision, emphasizing the need for strong support systems as parents face many responsibilities and challenges. Preventive measures like IVF and Pre-Implantation Genetic Diagnosis (PIGD) exist but are not easily accessible due to limited resources in public hospitals and high costs in private ones.
Lyn, recalling her daughter’s suffering, hopes for government inclusion of immune disorder tests for newborns to prevent severe complications and save lives. Her experience highlights the need for early diagnosis and treatment to provide children a chance at life.