Mother Faces Genetic Challenge as Fourth Child Diagnosed with SMA

Norhaziqah Rosli, a 34-year-old mother from Singapore, is grappling with the difficult reality of having two children diagnosed with spinal muscular atrophy (SMA), a rare genetic disorder. After losing her second child, Faris, to complications from the disease in June 2022, she has been faced with the news that her fourth child, Faziq, also has SMA. Despite the challenges, Norhaziqah remains hopeful for her son’s future.

Five months into her pregnancy with Faziq, Norhaziqah’s obstetrician-gynaecologist delivered news that echoed the pain of her past. The results from her amniocentesis revealed that her unborn child tested positive for SMA. “It was as if my whole life was sinking again,” she recalled. Nevertheless, Norhaziqah decided to keep the baby, who was born in June 2025.

Faris was diagnosed with type 1 SMA in early 2017 after his parents noticed he was not meeting developmental milestones. The condition, which typically manifests in infants, weakens muscles and reduces mobility. Without treatment, children with type 1 SMA often have a life expectancy of under two years. For Norhaziqah, the diagnosis was devastating. “I was shocked. I didn’t know what to do,” she said.

The family faced numerous challenges as they cared for Faris, who required constant medical attention. Despite the turmoil, they sought to maintain a sense of normalcy. “I wanted to be there for him at every moment,” Norhaziqah explained. Life revolved around frequent hospital visits, managing symptoms, and balancing the needs of their older son, Farrell.

After Faris’ death, the prospect of having another child brought a mix of joy and anxiety for Norhaziqah. A new pregnancy meant facing the possibility of another child with SMA. The confirmation of Faziq’s diagnosis was overwhelming. “I was so shocked that I couldn’t feel anything, like I was numb,” she stated.

With Faziq, there is a glimmer of hope. Unlike Faris, who had no access to effective medication, Faziq has been receiving treatment since birth. He is currently on a daily medication called risdiplam, which was approved by the Health Sciences Authority in 2021. This treatment aims to slow the progression of SMA and has already enabled Faziq to reach some motor milestones. However, the cost of the medication is steep, amounting to approximately S$4,800 per month at his current dosage.

Norhaziqah is also exploring the possibility of a one-time gene therapy that targets the root cause of SMA. This treatment, while not a cure, can significantly improve muscle function. Unfortunately, the therapy costs over S$2.3 million and is not subsidised by Singapore’s Rare Disease Fund. To help cover these costs, Norhaziqah is collaborating with the crowdfunding charity Ray of Hope.

Despite the financial burdens and the emotional toll of her experiences, Norhaziqah is determined to hold on to hope. “I want to believe that there is a possibility that all will be well,” she said. The support of her husband and mother has reinforced her resolve to face whatever challenges lie ahead.

Faziq, now seven months old, is often referred to as Norhaziqah’s “miracle baby.” His siblings, Farrell and Fasha, enjoy playing with him, creating moments of joy amidst the ongoing struggle. “We all miss Faris all the time, so I feel like Faziq makes us complete again,” she noted.

As Norhaziqah navigates the complexities of caring for a child with SMA, she remains focused on the positives. “I have redha,” she explained, referring to a Malay term that conveys acceptance and contentment with fate. “As long as we do our best, we will be okay, no matter what happens.”

In a journey marked by profound loss and enduring hope, Norhaziqah Rosli exemplifies the strength of a mother’s love and the relentless pursuit of a brighter future for her children.