March 21 is recognised as World Down Syndrome Day by the United Nations. In India, every year, an estimated of 30000 children are born with Down syndrome which is a genetic condition marked by an extra copy of chromosome 21. It is associated with certain level of learning disability, a characteristic facial appearance and a weak muscle tone. Kids suffering from this genetic disease are at a greater risk of childhood leukemia, heart defects and immune and endocrine system dysfunction.
Speaking on the occasion Dr. Mitesh Shetty, HOD, Department of Medical Genetics, Manipal Hospitals said, “Very few doctors are aware of the intricacies related to Down syndrome. We are creating awareness for the condition among clinicians since last two decades at Manipal Hospital. At the genetics department, we have a record of performing more than 14,000 pre-natal and post-natal genetic tests and have diagnosed nearly 500 Down syndrome cases. Apart from recognizing this disorder, we also provide support to patients with Down syndrome, which include a speech and language therapy, occupational therapy, physiotherapy and many more, which help facilitate development of the patient. The ultimate goal is to make them independent and help them to lead a meaningful life.”
Sharing insights on the occasion, Dr Sridevi Hegde, Senior Consultant, Department of Medical Genetics, Manipal Hospitals said, “It is advisable for all expectant mothers to undergo screening for Down syndrome and other chromosomal abnormalities during the first trimester of pregnancy. Those at high risk of having a fetus with Down syndrome after the biochemical and NT ultra sound scan are counselled by a team of genetic counsellors and given first-hand information about the diagnosis, which helps them to make informed choices. In general, it is estimated that there is 1 in 100 chance of recurrence of trisomy 21 in the next pregnancy. However, the risk is higher if one of the parents is a carrier of a balanced translocation. Latest technology like pre-implantation genetic screening allows healthy embryos to be transferred to the mother so that she can deliver a healthy baby.”
At the event, present were some heartwarming cases of Down Syndrome babies who have excelled in their fields due to their strong will, grit and sheer dedication to excel in life. Ms. Karishma Kannan received the 2014 World Downs Syndrome award in Chennai and felicitated the Indian Cricket team during their visit to Chennai. A celebrated painter she recently exhibited her work in Bangalore exhibition in Nov 2018.
Mr. Kushal won 3 Silver and 2 Gold medals at Paralympic Swimming championship held in Haryana, Mumbai and Chennai in 2008 and 2009 respectively. He bagged one gold and one bronze medal at Asia Pacific Special Olympics held in 2013. He participated and won Silver and bronze medal in 50m Freestyle and butterfly in America World Wide Sports championship in LA, USA. Currently he is working as a swimming coach cum lifeguard in Bangalore Vihara Kendra, Banashankari, Bangalore
Ms. Dinal Jain won Gold and bronze medal in Asia Pacific Paralympic Games, Australia 2013. She has 30 medals from National Swimming Competitions. She currently works as an Assistant Teacher in Sneha Dhara Foundation.