ISLAMABAD: On Saturday, a gathering of health experts, policymakers, and patient advocates united to emphasize the critical need for enhanced support systems for individuals suffering from Spinal Muscular Atrophy (SMA), a debilitating genetic disorder that progressively impairs muscle function. The event underscored the pressing demand for comprehensive policy reforms and sustainable solutions to improve the lives of those affected by this condition.
The conference, titled “From Possibility to Policy: Shaping the SMA Future,” was convened by the Strive Eradication of Disability Foundation (Strive). It brought together a diverse group of stakeholders, including government health officials, clinical specialists, representatives from pharmaceutical companies, donors, philanthropists, and families directly impacted by SMA. The forum provided a platform to discuss the challenges faced by patients and the urgent steps needed to address them.
Speakers at the event highlighted the remarkable progress made in medical science, which has transformed SMA from a once untreatable and fatal disease into a condition that can now be managed with advanced therapies. Despite these breakthroughs, many patients continue to encounter significant obstacles, primarily due to the exorbitant costs of treatment and the lack of a robust support infrastructure within the healthcare system. The consensus was clear: bridging this divide demands not only policy changes but also a long-term financial commitment from both public and private sectors.
Waseem Rafiq, Programme and Partnership Manager at Strive, shared insights into the foundation’s ongoing efforts and challenges. He revealed that Strive receives numerous requests for assistance from underserved regions such as Balochistan, interior Sindh, South Punjab, and other remote parts of the country. However, the foundation’s limited financial resources hinder its ability to provide aid to all patients in need. Currently, approximately 500 SMA patients are registered with Strive, and over the past 11 months, the foundation has facilitated 31 treatment cycles for 16 patients. Each treatment cycle costs roughly Rs1.1 million per patient, placing an immense financial strain on families already grappling with the disease.
Rafiq further explained that Strive is actively engaging with both federal and provincial health authorities, urging them to assume responsibility for SMA patients within their jurisdictions. These discussions aim to secure better access to life-saving treatments and encourage government involvement in funding and healthcare integration. Additionally, the foundation is negotiating with medical laboratories and pharmaceutical firms to reduce the costs of diagnostic tests and therapies, hoping to make treatment more affordable and accessible.
Muhammad Yasir Khan, CEO of Strive, reflected on the grim reality faced by SMA patients in the past. He recalled a time when children diagnosed with SMA often succumbed to the disease due to the absence of effective treatments. “Although recent medical advancements have revolutionized the treatment landscape, many children still lose their lives because of inadequate support systems and the failure to incorporate SMA care into the national healthcare framework,” he lamented. Khan also noted that while some patients have shown promising improvements after receiving treatment, others have tragically died when financial constraints forced the discontinuation of therapy.
In a significant development, Khyber Pakhtunkhwa’s Health Minister Khaliq Ur Rehman pledged the provincial government’s unwavering support for SMA patients. He highlighted the role of the Sehat Card programme, which provides financial assistance for medical treatments, and announced that the government has allocated special grants to help patients who cannot afford costly therapies. Moreover, the minister revealed plans to collaborate with Strive to formulate a comprehensive strategy aimed at integrating SMA care into the provincial healthcare system. This initiative will focus on ensuring timely diagnosis, improving treatment accessibility, and establishing sustainable funding mechanisms.
Clinician and researcher Dr. Gul-e-Sehar emphasized the ongoing challenges related to awareness and diagnosis of SMA. She pointed out that knowledge about the disorder remains limited, even among healthcare professionals, which contributes to delayed or missed diagnoses. Dr. Sehar stressed the importance of training general physicians to recognize early symptoms of SMA and promptly refer patients for genetic testing, a step that could significantly enhance patient outcomes.
Adding to the discussion, Dr. Waseem Ur Rehman, a pediatric neurologist at Shifa International Hospital in Islamabad, highlighted the critical importance of early diagnosis. He explained that the loss of motor neurons caused by SMA is irreversible, making timely detection and intervention essential to preserving motor function, improving clinical results, and slowing disease progression. Similarly, Dr. Athar Khalily, a pediatric neurologist at Northwest Hospital in Peshawar, pointed out that many SMA cases remain undiagnosed or are misdiagnosed due to the high cost and limited availability of genetic testing. He also noted that the lack of routine carrier screening and insufficient awareness contribute to preventable fatalities among children.
SMA is a rare but severe genetic disorder that weakens muscles by affecting the motor neurons responsible for movement control. It predominantly impacts infants and young children and ranks among the leading genetic causes of infant mortality worldwide. The severity of symptoms varies, with Type 1 SMA being the most critical form, characterized by profound muscle weakness, respiratory difficulties, and a high risk of death before the age of two.
Since 2016, several FDA-approved treatments have emerged that can slow the progression of SMA, enhance muscle function, and extend patients’ lives, particularly when therapy begins early. However, in Pakistan, these treatments remain prohibitively expensive, even when partial subsidies are available, limiting their reach to many families in need. The event concluded with a strong call for coordinated efforts to reform healthcare policies, increase funding, and raise awareness to ensure that SMA patients receive the care and support they desperately require.
