Health experts at the event Beyond SMA Unlocking the Cure urged immediate action to integrate carrier screening and prenatal testing into premarital and reproductive health protocols as a cornerstone of SMA prevention in Pakistan. Dr. Salman Kirmani
, paediatric geneticist and metabolic specialist at Aga Khan University, explained that when both parents are carriers of Spinal Muscular Atrophy there is a 25 percent chance a child will be affected and a 75 percent chance the child will be a carrier. He described how failure of SMN genes to produce essential proteins in the spinal cord leads to progressive muscle weakness and lifelong disability, with Type 1 and Type 2 SMA among the most severe forms often causing early infant death from complications such as pneumonia.
Dr. Kirmani underscored that out-of-family marriages reduce the risk of transmitting genetic disorders, while couples related by blood can assess their children’s susceptibility through blood genetic screening. General Sohaib, a specialist in genetic diseases, noted that religious scholars globally permit termination before 17 weeks in cases of severe genetic conditions and identified SMA as qualifying under that guidance. He stressed that prevention, awareness and widespread prenatal screening offer the most realistic route to reduce suffering from this disease.
MNA Sehar Kamran warned that options become limited once the disease manifests and pressed for timely diagnosis and modern, open attitudes toward preventive health. Families at the session screened a video of parents who have lost multiple children to SMA and are still awaiting treatment for surviving children; their emotional appeals urged authorities and the public to act quickly to prevent further tragedies.
The Foundation also launched a National SMA Registry to centralise patient data and support treatment access, funding and policy decisions. Muhammad Yasir Khan, CEO and director of Strive Eradication of Disability Foundation, said the registry will allow patients across Pakistan to register and help identify families who need screening and counselling. Saman Fatima, Development and Operations Lead at Strive, reported that from 2022 to 2025 the foundation supported treatment for around 101 patients; 28 patients received 62 cycles of medicine with Rs. 69 million invested, while 73 patients secured funding from government and other sources due to increased awareness and support.
Speakers highlighted the severe cost barrier to treatment, noting a single dose is priced at about $4,700 (roughly Rs. 1.3 million) and that even an 80 percent subsidised rate places medicines out of reach for many families. They warned that limited diagnostic infrastructure, scarce genetic services and restricted access to therapy magnify the impact of SMA in Pakistan and called for a coordinated national approach that combines carrier screening, prenatal testing, genetic counselling and a functioning registry to advance SMA prevention and protect future generations.
