Health Experts Urge To Protect Future Generation From SMA Disease

Health experts have urged people to undergo early screening before marriage and during pregnancy for protecting future generations from Spinal Muscular Atrophy (SMA) which causes lifelong disability

ISLAMABAD, (UrduPoint / Pakistan Point News - 20th Mar, 2023 ) :Health experts have 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 organized 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 organized by the Strive Trust, a not-for-profit organization 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 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 Orooj, 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 was 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. Severe SMA can damage the muscles used for breathing and swallowing leading to child death.

There's no cure for SMA, but ongoing treatments can help children with SMA live a better life.

A new treatment has been introduced in Pakistan, however, the cost of the drug makes it inaccessible to many patients.

The annual cost of the drug is between 2 million to 7 million rupees after 80 per cent discounts by the company still it's out of reach for even upper-middle-income families.

Founder and chair of the Trust Muhammad Yasir Khan, who himself suffers from the disease, said the Strive Trust was striving hard to make the drug available to the patients by connecting the prospective donors with the patients.

He said many children died while waiting for medicine for the disease. "As the medicine is too expensive and despite massive discounts, only 9 children are being supported by the Trust to provide the medicine." The parents were also apprised of Wandercraft, a French company that has pioneered cutting-edge walking robotics.

The representatives of the company from Paris via a video link showcased the latest exoskeleton for the rehabilitation of patients.

They hoped that one day such advanced robot skeletons will be available in the future for personal and home use.

Jasdev Singh of Wandercraft said currently the company had no office in Asia but in the future they will plan to open one.