Noida’s children’s hospital makes testing for spinal muscular atrophy free

SMA is a rare genetic disorder that causes muscle weakness that can affect a child’s ability to crawl, walk, sit and move her head. In severe cases, it can also damage muscles that help a child breathe, and can eventually result in mortality

Noida’s Post Graduate Institute of Child Health (Child PGI) in Sector 30 has become the first government hospital in Uttar Pradesh to offer free of cost testing for spinal muscular atrophy (SMA), a rare genetic disease, hospital officials said on Tuesday.

Doctors at Child PGI (above) said he cost of SMA testing at government hospitals in Uttar Pradesh and Delhi range between ₹3,500 and ₹7,000. (HT Archive)

SMA is a rare genetic disorder that causes muscle weakness that can affect a child’s ability to crawl, walk, sit and move her head. In severe cases, it can also damage muscles that help a child breathe, and can eventually result in mortality.

According to Dr Mayank Nilay, assistant professor, medical genetics, PGICH Noida, the free-of-cost testing began on May 1, while earlier the testing cost about ₹4,000-5,000.

“Whenever we got a patient with symptoms of SMA, testing them for this genetic disorder used to be a challenge as the cost of testing was high. In the last two years, while I have received several patients with suspected SMA, we were able to confirm SMA in only 50 patients, who had wherewithal to afford the test,” said Dr Nilay.

Now, with the help of funding from an NGO, the department has made SMA testing free for all. “This will help us provide the diagnostic test to a large number of patients, especially to those from low economic backgrounds,” said Dr Nilay.

He added that the cost of SMA testing at government hospitals in Uttar Pradesh and Delhi range between ₹3,500 and ₹7,000.

“PGICH is the first government hospital in UP to provide free of cost testing of SMA. The hospital will also act as a referral centre for not just Noida but other districts in western Uttar Pradesh as well,” said the doctor.

He said Indian studies have shown that one in 38 people carry the SMA gene. “As a result, the incidence of SMA is one in 5,620 live births in India,” said Nilay, who has also published a research paper on SMA in the American journal, Medical Genetics, in 2020.

Recently on May 4, the hospital diagnosed Aligarh resident Gaurav Rawat’s two-year-old son with SMA. “Our child was not crawling which made us concerned. When we took him to doctors, none of them was able to diagnose him. Then we searched online about his symptoms and reached PGICH for a diagnosis. We are now under process to begin SMA treatment for our son Vihaan.” said Rawat, who works at a private firm in Aligarh. Vihaan’s case is the first one diagnosed at PGICH under the free-of-cost testing programme.