March 21, 2020: On World Down Syndrome Day, I interviewed Suruthi Abirami, a genetic counsellor, about her personal experience in helping people who are fighting this disorder. Suruthi Abirami currently works as a genetic counsellor and geneticist at Anderson Diagnostics and Labs, Chennai. She completed her postgraduate diploma in medical and genetic counselling from Kamineni Hospitals Pvt. Ltd. and her M.Tech in Genetic Engineering from SRM Institute of Science & Technology. She is a Level 1 Genetic Counsellor certified by the Board of Genetic Counselling, India.

Suruthi

Suruthi Abirami at Kamineni Hospitals Pvt. Ltd., Hyderabad

Could you please briefly share your journey as a genetic counsellor so far?

My journey of helping families with genetic disorders make informed decisions has been incredible. In a country like India, the challenging part for me is to consider the psycho-social and religious aspects of the families while making decisions. I counsel roughly about 20 patients in a week. I also provide scientific support for clinicians around the country. I help them understand the situation and offer the best genetic testing for the patient.

How has your experience with Down syndrome patients been?

With many new technologies that are available these days, most of the pregnant women around the country are offered prenatal screening for Down Syndrome and other genetic conditions. That means pregnant women are screened to see if the baby they are expecting has a risk of having Down syndrome. If the screening shows a high risk, a confirmatory test is done, and the couple is counselled to make informed decisions. So, most of my counselling in case of Down syndrome is for couples with a high risk of having a child with Down syndrome. I mostly counsel them before the child is born. When the confirmatory test is positive, I counsel them about the condition, prognosis and management.

From your experience, how prevalent is this rare disease in India?

Down syndrome is no longer a rare disease in India. India lacks statistical data, but I think about 1 in 750 to 1000 births in India may have Down syndrome. By educating the public about the prenatal screening for Down syndrome, the situation can be improved.

What kind of problems do these Down syndrome patients deal with?

The main problem is social stigma and acceptance. The average life expectancy of individuals with Down syndrome is 60 years. But they need constant medical care because they suffer from different levels of intellectual disability, cardiac issues, thyroid dysfunction, poor muscle tone and low immune system.

What message would you like to share with the community on World Down Syndrome Day?

As we celebrate people with Down Syndrome today, I urge everyone to be empathetic. Show love and acceptance for people with Down syndrome and other genetic disorders. They deserve a life just like all of us and recognizing them as one among us means a lot to this community. At the end of the day, that is what every single person in this world with a rare disease or genetic disorder wants.

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