Protection against lifelong disability: Health experts call for screening before marriages

Islamabad : Health experts and philanthropists on Friday urged people to undergo early screening before marriage and during pregnancy for protecting future generations from Spinal Muscular Atrophy (SMA), which causes lifelong disability.

They were speaking at a gathering organised to find ways to make the expensive treatment of the disease available to everyone in Pakistan and to end it by taking preventative measures.

The event ‘Curing the Incurable’ was organised by the Strive Trust, a not-for-profit organisation working to improve the quality of life of Persons with Disabilities (PWDs).

Dr Salman Kirmani, Genetics Specialist and Associate Professor at Agha Khan University said, “No matter how hard we try, it will be difficult to provide treatment to all. “The best solution was to prevent future generations from contracting this disease by early screening, he stressed. He said its ratio in the West was one in 10,000 children but here it can be one in 6,000 due to cousin marriages. He suggested that couples who already have a child with SMA to undergo genetic screening between 11 to 12 weeks of pregnancy and end it if the tests are positive.

He said there is a decree that allows the termination of pregnancies within 24 weeks in cases of incurable diseases. Dr Hasan Arooj, a health expert, said, “The disease can be hereditary so its screening can be done before marriage.” He said the patients must not suffer just because of expensive treatment that requires millions of dollars. He said like other diseases, the government can play its role and help make its treatment accessible for the patients.

It’s a rare disease and the government can support a few people suffering from it.

He suggested forming a committee of esteemed people working on the disease to meet health ministry officials so that a proposal can be forwarded to the Planning Commission for allocating funds for the treatment. Prof. Dr Shahzad Ali Khan, Vice Chancellor of the Health Services Academy lamented that there was no culture of prenatal screening in Pakistan. He said many countries had eliminated Thalassemia via early screening but in Pakistan cases of thalassemia were still prevalent. He said the SMA too can only be eliminated by prenatal screening among carriers of SMA.

CEO Sehat Sahulat Programme Mohammad Arshad asserted that the solution was “not in treatment but in prevention”. He stressed that couples should get themselves tested before marriage and during pregnancy to make sure they give birth to a healthy child. The participants were apprised about SMA -a genetic condition that causes muscles throughout the body to break down. This happens when the body cannot produce an essential protein called ?survival motor neuron, which is needed for specialized nerves called motor neurons to function properly. It can affect a child’s ability to eat, breathe, crawl, walk, sit up, and control head movements.