Kuala Lumpur: The test was positive. Haliza Md Kasim's heart sank as she received the devastating news that her two-month-old son, Irfan, had tested positive for Mucopolysaccharidosis Type II (MPS II), also known as Hunter Syndrome. Despite her previous experience with her first son, Yusof, who also suffers from the genetic disease, Haliza had hoped Irfan might escape the same fate. Sitting in the Kuala Lumpur Hospital (HKL), the reality of the situation hit hard as the genetics specialist outlined the treatments available for Irfan.
According to BERNAMA News Agency, Haliza and her husband, Mohd Adam Sapardi, are all too familiar with the challenges Hunter Syndrome brings. Their first son, Yusof, was diagnosed with the rare, progressively debilitating disease, which has no cure and affects 1 in 100,000 to 170,000 male births. Yusof's condition worsened over time, leading to severe developmental delays and health issues until his passing in 2020 at the age of 11. Now, with Irfan showing symptoms despite early intervention with enzyme therapy, the family faces the same heart-wrenching journey once more.
The couple's journey with Hunter Syndrome began with Yusof's birth in 2009. After experiencing complications and developmental delays, genetic testing confirmed the rare disorder. The family dedicated themselves to Yusof's care, making frequent trips to HKL for necessary treatments. Despite the support of their community, the emotional and physical toll was immense. Yusof's sisters struggled to cope with the attention their brother required, leading to feelings of resentment and embarrassment.
Haliza's fears resurfaced when she became pregnant with Irfan. Although she declined prenatal testing due to the risk of miscarriage, she hoped for a healthy baby. Initially, Irfan's development appeared normal, bringing the family a glimmer of hope. However, as symptoms of Hunter Syndrome emerged, their optimism faded, and they prepared for another challenging journey.
The family is now faced with the difficult decision to test their daughters for the gene responsible for Hunter Syndrome. Both daughters are at risk of being carriers, which could impact their future families. Haliza and Adam emphasize the importance of knowing their genetic status to plan for the future, including potential medical procedures and financial considerations. Aisyah, their eldest daughter, is set to undergo testing upon her return from studying in Jordan.
As they brace for the future, Haliza and Adam are determined to support their daughters in making informed decisions about marriage and family planning. They hope to spare them the heartbreak and challenges they have experienced. Despite the genetic burden, Aisyah remains hopeful, believing that the right partner will accept her for who she is, "defective gene and all."
Hunter Syndrome remains a heavy burden for Haliza and Adam, but their resilience and commitment to their children's well-being continue to guide them through this challenging journey.