After she lost one son to spinal muscular atrophy, her other son has it too

A family’s experience highlights the evolving landscape of treatment for Spinal Muscular Atrophy (SMA), a genetic condition impacting muscle strength and movement. While one son faced limited options, a younger brother is receiving early intervention that is demonstrably improving his development.

A Tale of Two Brothers

Faziq, unlike his late brother Faris, is experiencing a more stable progression of SMA. He is able to move on the floor, raise his arms, and exhibit excitement through physical animation. His mother, Norhaziqah, notes that Faziq is “not as ‘floppy’ as Faris was,” and is able to sit more upright.

The Impact of Early Treatment

The key difference between the two boys’ experiences, according to Norhaziqah, is access to treatment. When Faris was diagnosed, affordable and effective medication was unavailable, leaving the family to focus on managing his pain and symptoms. Faziq, however, began receiving the medication risdiplam at birth.

Did You Know? Risdiplam, the medication Faziq receives, was approved by the Health Sciences Authority in 2021.

Risdiplam, while not a cure, slows the progression of SMA and has allowed Faziq to reach certain motor milestones despite experiencing some muscle weakness. Currently, the medication costs approximately S$4,800 per month at his current dosage.

Future Challenges and Potential Solutions

As Faziq grows, the required dosage of risdiplam will increase, potentially reaching S$12,000 per month. Due to these escalating costs, Faziq’s paediatric neurologists have recommended a one-time gene therapy. This therapy aims to address the root cause of SMA by replacing the missing gene.

While not a cure, the gene therapy is designed to halt the progression of the disease and improve muscle function, potentially enabling children with SMA to achieve developmental milestones. Doctors recommend administering the therapy as early as possible, ideally within the first few months of life and before the age of two, to maximize its effectiveness before permanent muscle damage occurs.

Expert Insight: The recommendation of gene therapy highlights the complex trade-offs families face when navigating rare disease treatments. While ongoing medication can manage symptoms, a one-time therapy offers the potential for a more lasting impact, but also carries its own considerations regarding timing and long-term effects.

A possible next step for Faziq could be undergoing the gene therapy, if deemed appropriate by his medical team. It is also likely that continued monitoring and adjustments to his treatment plan will be necessary. The long-term effects of both risdiplam and the potential gene therapy remain to be fully understood.

Frequently Asked Questions

What is the difference between Faziq’s and Faris’s experiences?

Faris did not have access to affordable medication, so treatment focused on managing pain and symptoms. Faziq has been receiving risdiplam since birth, which helps slow the progression of SMA.

How much does Faziq’s medication currently cost?

Risdiplam currently costs about S$4,800 a month at Faziq’s dosage, but this is expected to increase to approximately S$12,000 a month as he grows.

What is the purpose of the recommended gene therapy?

The gene therapy aims to replace the missing gene that causes SMA, stopping the disease’s progression and improving muscle function.

How might advancements in medical treatments impact the lives of families facing rare genetic conditions?