ISLAMABAD: A five-year plan to eradicate spinal muscular atrophy (SMA), a genetic disorder causing progressive muscle weakness that was once a leading cause of infant mortality has been launched.

The plan proposes countrywide awareness campaigns, access to diagnosis, treatment and research facilities to wipe out the disease in a phased manner in collaboration with governments, donors and research organisations.

The plan was unveiled at an event “Strive towards the SMA endgame” to raise awareness and funds. The event was organised by Strive Eradication of Disability Foundation (SEDF), which works for improving the quality of life of persons with disabilities (PWDs).

The founding chairman of SEDF Mohammad Yasir Khan said the plan was a commitment to ensure that every SMA patient in Pakistan received the treatment they deserved.

“Governments have been providing no support due to high costs of treatment. Pakistan lacks proper screening, early diagnosis, and access to treatment and this strategic plan outlines how we will change that. The disease can be prevented by expanding genetic screening, newborn testing, and early detection. And advancing research in artificial intelligence, cutting-edge treatments and emerging medical technologies can pave the way towards a permanent cure of SMA,” he said.

Strive Life Club, a treatment fund for FDA-approved drugs, was also constituted to provide free of cost treatment to the patients who are in need of medication.

It may be mentioned that there was a time when SMA was the single largest cause of infant mortality but with the breakthrough of new medicines a few years ago now lives can be saved. But due to high costs, the medicines cannot be provided timely to the children. The cost of one dose of medicine is $4700 that is available in Pakistan on 80 per cent subsidised rate that too is beyond the reach of a large segment of patients.

Haris Tariq, father of a minor patient, said that support was required so that such children can live a better life without or with minimal physical dependence on others.

“The disease is increasing gradually and there is a dire need to accelerate the efforts to take preventative measures and provide diagnosis and treatment facilities. Donors should come forward and support so that more patients can benefit from this miracle drug,” he said.

A 6th grade student, Hareem Shoaib, 11, suffering from SMA type-2 has been receiving required doses of medicines from the foundation. She said she can now walk, sit and continue her studies properly due to the uninterrupted treatment.

SMA can be classified into four types depending upon the severity of the disease. It can affect a child’s ability to crawl, walk, sit up, and control head movements. Severe SMA can damage the muscles used for breathing and swallowing leading to child death. Without treatment, most SMA patients do not survive. It’s a progressive disease and cause lifelong disability in adults. There’s no cure for SMA, but ongoing treatments can help children with SMA live a better life. Published in Dawn, March 17th, 2025