Mother Faces New Challenge as Fourth Child Diagnosed with SMA

Norhaziqah Rosli, a mother from Singapore, faces a profound emotional challenge as her fourth child, Faziq, has been diagnosed with spinal muscular atrophy (SMA), a rare genetic disease. This comes five years after she lost her second child, Faris, to the same condition. When faced with the results of her amniocentesis during pregnancy, she had to confront the heartbreaking question: “Do you want to keep the baby?” Despite the difficult circumstances, Norhaziqah chose to proceed with her pregnancy, holding on to hope for her newborn.

SMA is a progressive genetic disorder that weakens muscles over time. The condition is usually diagnosed in infants who miss essential developmental milestones, such as holding their head up or swallowing. Norhaziqah first encountered SMA in early 2017 when her son Faris was diagnosed with type 1 SMA. The prognosis was grim; without treatment, children with this form of SMA often have a life expectancy of under two years.

Reflecting on the diagnosis, Norhaziqah recalled, “It was my first time hearing about it; the name looked so medical and foreign.” The reality was stark: despite appearing healthy, Faris suffered from severe muscle weakness and breathing difficulties. His condition required extensive medical care, including frequent hospital visits and expensive treatments that the family struggled to afford.

“Faris looked so normal, smiling and babbling, but inside, his body was breaking down,” she shared. The family made sacrifices to ensure that Faris lived comfortably, with Norhaziqah becoming a stay-at-home mother while her husband worked multiple jobs to support them.

Norhaziqah’s journey of motherhood continued with the birth of her daughter Fasha in July 2018. While the pregnancy was filled with anxiety about the possibility of another SMA diagnosis, Fasha was born healthy. The family, despite their challenges, sought to create joyful experiences together, often planning outings that accommodated Faris’s medical needs.

However, tragedy struck on June 2022, when Faris passed away on Norhaziqah’s birthday. The loss was devastating, leaving her with a profound sense of grief and uncertainty about the future. When she discovered she was pregnant again two years later, mixed emotions flooded in.

“I was surprised and excited, but I also had darker thoughts,” she said. Unfortunately, her fears were confirmed during an amniocentesis, revealing that her new baby would also face the same diagnosis of SMA. “I was so shocked that I couldn’t feel anything, like I was numb,” she recounted.

Despite the emotional turmoil, Norhaziqah found strength in the support of her husband and mother, who reassured her that children are blessings. “They told me that whatever happens to this baby inside me, they will be there for me,” she stated, which provided the encouragement needed to prepare for Faziq’s arrival.

Faziq, now seven months old, is affectionately referred to as Norhaziqah’s “miracle baby.” Unlike Faris, who struggled significantly due to SMA, Faziq’s condition is more stable. He has shown progress with early access to treatment, receiving the medication risdiplam daily since birth. This relatively new drug slows the progression of SMA and has allowed Faziq to achieve some motor milestones.

Despite this progress, the cost of treatment is substantial, currently estimated at around S$4,800 per month. As Faziq grows, his dosage will increase, potentially raising monthly expenses to S$12,000. Recognizing the financial burden, Norhaziqah is working with the crowdfunding charity Ray of Hope to raise funds for a one-time gene therapy treatment that could significantly improve Faziq’s condition.

The therapy, while not a cure, aims to replace the missing gene responsible for SMA, offering hope for better muscle function and developmental milestones. However, the treatment costs exceed S$2.3 million and is not covered under Singapore’s Rare Disease Fund, adding to the family’s financial strain.

“Of course, the worst thoughts still cross my mind. What if we don’t raise enough funds? What if he can’t get the medication in time?” Norhaziqah admitted. Yet, she remains resolute, stating, “I want to hold on to hope. I must believe that there is a possibility that all will be well, that there will be a cure.”

In sharing her story, Norhaziqah emphasizes the importance of hope and the strength derived from family support. She cherishes the moments with her children, believing that despite the challenges, there is still good in her journey. “I believe that one day, I will meet them again,” she concluded, embodying a profound sense of resilience and love in the face of adversity.