Pakistani experts unite to tackle Spinal Muscular Atrophy crisis

Islamabad: The Strive Eradication of Disability Foundation organized a landmark event in Islamabad focusing on Spinal Muscular Atrophy (SMA), a rare genetic disease that causes progressive muscle weakness and severe disability in children.

The conference brought together prominent national and international medical experts, healthcare professionals, and community advocates to discuss the latest advancements in SMA diagnosis, treatment, and emergency care, alongside the foundation’s achievements and future roadmap.The session opened with an introduction to Strive Foundation, Pakistan’s pioneering organization dedicated to SMA awareness, treatment access, and patient support.

The host recounted the foundation’s 12-year journey under the leadership of Founder and Chairperson Muhammad Yasir Khan, who launched the initiative with limited resources but a strong commitment to improving the lives of children affected by the debilitating condition.The event’s core segment featured expert-led medical discussions highlighting critical aspects of SMA management and patient care.

Dr. Asim Ijaz, UK-based Consultant in Emergency Medicine, delivered a detailed presentation on the acute assessment and management of SMA patients in emergency departments. He underscored that SMA patients are physiologically fragile, explaining that minor infections can rapidly escalate into respiratory crises.

Dr. Ijaz presented the “SMART” protocol—Support breathing, Metabolic/hydration, Airway, Review baseline, Trigger—to help emergency physicians stabilize SMA patients effectively. He cautioned against sedatives and emphasized the need to listen to caregivers, describing them as a vital source of clinical insight.Dr. Maryam Tariq, Clinical Lead at Rawalpindi Medical College, outlined the pathophysiology and genetic mechanism of SMA, identifying it as an autosomal recessive disorder caused by deletion of the SMN1 gene.

She discussed the four major SMA types, ranging from the most severe infantile form to the adult-onset Type 4, and highlighted the psychological and physical strain on caregivers, urging the medical community to offer compassionate support. Dr. Waseem Ur Rahman, Associate Consultant in Pediatric Neurology at Shifa International Hospital, spoke on the genetic evolution and treatment breakthroughs in SMA.

He detailed advanced therapies including Nusinersen, Zolgensma, and Risdiplam, noting that Strive Foundation played a pivotal role in bringing these treatments to Pakistan. He shared success stories of children with Type 1 SMA who, through access to Risdiplam, have survived beyond infancy and achieved physical milestones once deemed impossible.

The event also showcased Strive Foundation’s key initiatives and technological milestones. Waqar Hussain and Muhammad Uzair Khan presented the foundation’s official website, strivefoundation.co, Pakistan’s first automated SMA patient registration and sponsorship system. The platform enables patients and caregivers to apply for treatment funding, while donors can track patient progress and medical updates transparently.

Saman Fatima, Development and Program Lead, highlighted that Strive has provided 65 treatment cycles to 29 patients and helped bring the FDA-approved drug Evrysdi to Pakistan. In total, 102 SMA patients nationwide have received treatment through combined efforts of Strive and other supporting entities.

However, 45 patients remain on the waiting list, underscoring the need for sustained funding and public support. A special tribute was paid to the foundation’s leadership, including Founder Muhammad Yasir Khan, Director Majid Qureshi, Founding Member Syed Ali, and philanthropist Mazhar-ul-Haq Lone, who was the first major benefactor to support SMA patients in Pakistan.

In the concluding session, Majid Qureshi and Syed Ali thanked the attending medical experts for their technical guidance and called for greater collaboration to enhance fundraising and outreach.Delivering closing remarks, M. Yasir Khan reaffirmed Strive Foundation’s mission to lead Pakistan’s fight against SMA through youth-driven commitment and innovation.

He expressed concern over restrictions on international donations due to banking limitations and Pakistan’s exclusion from platforms like GoFundMe. He also warned that the withdrawal of major pharmaceutical companies from Pakistan has severely damaged access to life-saving drugs and medical research. Appealing for collective action, Yasir Khan stated that with sustained cooperation, treatment for every registered SMA patient in Pakistan is an achievable goal.

Quoting the Qur’anic verse, “Whoever saves one life, it is as if he saved all of humanity,” he urged continued generosity and unity, especially as Ramadan approaches.