ISLAMABAD: On Saturday, a gathering of health experts, policymakers, and advocates for patients living with Spinal Muscular Atrophy (SMA) emphasized the critical need for enhanced support systems and policy reforms to address the challenges faced by those affected by this debilitating genetic disorder. SMA, which progressively impairs muscle function, remains a significant health concern, particularly due to the high cost of treatment and limited access to care in many parts of Pakistan.
The event, 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, medical specialists, representatives from pharmaceutical companies, donors, philanthropists, and families impacted by SMA. The forum aimed to foster dialogue on transforming recent medical advancements into accessible and sustainable healthcare solutions for SMA patients nationwide.
Speakers at the event highlighted that although breakthroughs in medical science have shifted SMA from an untreatable condition to one that can be managed with appropriate therapies, many patients continue to encounter significant obstacles. The prohibitive cost of treatment and the absence of comprehensive systemic support remain major barriers. Experts stressed that overcoming these challenges requires not only immediate policy reform but also a long-term financial commitment from both federal and provincial governments.
Waseem Rafiq, Programme and Partnership Manager at Strive, shared insights into the foundation’s ongoing efforts and the demand for assistance from underserved regions such as Balochistan, interior Sindh, South Punjab, and other remote areas. Despite the high volume of requests, limited funding restricts Strive’s capacity to provide support to all patients in need. Currently, approximately 500 patients are registered with the foundation, which has facilitated 31 treatment cycles for 16 patients over the past 11 months. Each treatment cycle costs nearly Rs1.1 million per patient, imposing a heavy financial strain on families struggling to afford these life-saving therapies.
Rafiq also revealed that Strive is actively engaging with both federal and provincial health authorities to encourage them to assume responsibility for patients within their jurisdictions. These discussions aim to secure government-backed access to essential treatments. Additionally, the foundation is negotiating with pharmaceutical companies and medical laboratories to reduce the costs of diagnostic tests and medications, making treatment more affordable and accessible.
Muhammad Yasir Khan, CEO of Strive, reflected on the grim reality faced by children diagnosed with SMA before the advent of new therapies. He noted that many young patients previously succumbed to the disease due to the absence of effective treatment options. While recent medical advancements have significantly improved the prognosis for some children, the lack of integration of SMA care into the national healthcare framework means many still die prematurely. Khan pointed out that although some patients have shown remarkable progress after receiving treatment, financial constraints have forced discontinuation of therapy in certain cases, leading to tragic outcomes.
In a significant development, Khyber Pakhtunkhwa Health Minister Khaliq Ur Rehman pledged the provincial government’s full commitment to supporting SMA patients. He highlighted the role of the Sehat Card programme, which provides financial aid for medical treatments, and announced the release of special grants aimed at helping families unable to afford costly therapies. Furthermore, the minister confirmed that the provincial government, in partnership with Strive, is working on a comprehensive strategy to formally incorporate SMA diagnosis and treatment into the provincial healthcare system. This initiative will focus on ensuring timely diagnosis, improving treatment accessibility, and establishing sustainable funding mechanisms.
Medical professionals also addressed the critical issue of awareness and early diagnosis during the event. Dr. Gul-e-Sehar, a clinician and researcher, pointed out that knowledge about SMA remains limited even among healthcare providers. She emphasized the shortage of specialists and the lack of widespread genetic screening facilities, which contribute to delayed diagnosis and treatment. Dr. Sehar advocated for training general practitioners to recognize early symptoms of SMA and promptly refer patients for genetic testing, which could drastically improve patient outcomes.
Adding to this, Dr. Waseem Ur Rehman, a pediatric neurologist at Shifa International Hospital in Islamabad, stressed the importance of early intervention. He explained that the loss of motor neurons caused by SMA is irreversible, making early diagnosis and treatment crucial to preserving motor function and slowing disease progression. Similarly, Dr. Athar Khalily, a pediatric neurologist at Northwest Hospital in Peshawar, highlighted that many SMA cases remain undiagnosed or are misdiagnosed due to the high cost and limited availability of genetic testing. He noted that the lack of routine carrier screening and insufficient awareness contribute to preventable fatalities among children with SMA.
Spinal Muscular Atrophy is a rare inherited disorder that progressively weakens muscles by affecting the motor neurons responsible for movement. It predominantly impacts infants and young children and is recognized as one of the leading genetic causes of infant mortality worldwide. The severity of symptoms varies, with Type 1 SMA being the most severe form, often resulting in profound muscle weakness, respiratory difficulties, and death before the age of two if untreated.
Since 2016, three treatments approved by the US Food and Drug Administration have shown promise in slowing the progression of SMA, improving muscle strength, and extending patients’ lifespans, particularly when administered early. However, in Pakistan, the high cost of these therapies remains a major obstacle, even with partial subsidies. The urgent call from health experts and advocates is for comprehensive policy reforms and sustained financial support to ensure that all SMA patients in the country can access these life-saving treatments without facing insurmountable economic hardships.
