The Journey of Identification and Hope for Spinal Muscular Atrophy Patients

Spinal Muscular Atrophy (SMA) is a rare genetic disorder, dubbed the “muscle strength thief” of children. It is one of the most dangerous genetic disorders in young children, with an incidence rate of approximately 1 in 10,000 live birthsand a mortality risk of up to 90% before the age of two for its most severe form.

To enhance awareness and support for children living with SMA, the National Fund for Vietnamese Children (NFVC) has collaborated with Novartis Vietnam to implement the project “Raising Awareness and Enhancing Support for Children with Spinal Muscular Atrophy in Vietnam” (SMA – Empowering Children with SMA).

Disease Mechanism and Early Signs

According to medical experts, SMA is a rare genetic disorder caused by a defect in the SMN1 gene, leading to the degeneration of motor neurons and the progressive weakening of muscles. The severity of the disease depends on the amount of residual SMN protein in the body.

.Early signs that parents should watch for include:

• Weak movement, difficulty holding the head up.

• Delayed milestones such as sitting, crawling, or walking.

• Reduced limb movement and muscle wasting.

• Accompanied by difficulty breathing or frequent choking.

Diagnosis relies on clinical examination combined with SMN1 gene testing, sometimes supplemented by electromyography. Early detection is critical as it allows for more effective intervention, ranging from physical therapy and rehabilitation to the currently available specific drugs, aimed at maintaining muscle strength and slowing down disease progression.

Challenges and Community Support Solutions

The NFVC representative shared that families with children suffering from SMA face intertwined pressures, including the massive financial burden of treatment costs and mobility equipment, prolonged psychological distress, and sometimes stigma from the community.

Therefore, building a cohesive community among patient families and raising social awareness about SMA are key to eliminating prejudice and creating a proper supportive environment. The Fund also plans to expand social resource mobilization, develop specialized care services, and provide skill training for caregivers to help them confidently navigate the treatment process.

The NFVC and Novartis Vietnam collaborative project has a total budget exceeding VND 8.1 billion for the 2022-2025 phase, focusing on strategic activities such as community awareness campaigns, supporting gene testing, enhancing the diagnostic/treatment capacity of healthcare staff, and researching policy proposals.

Source: https://www.qdnd.vn/y-te/suc-khoe-tu-van/benh-teo-co-tuy-hanh-trinh-tu-phat-hien-den-hy-vong-1014945