By Our Reporter
SHILLONG, April 3: What impact does an additional copy of chromosome 21 have? This genetic disorder, known as trisomy, can lead to Down syndrome, a condition characterized by a range of birth defects, intellectual disabilities, and distinctive facial features known as Down’s facies. Common issues include heart anomalies, hypothyroidism, and sensory impairments, collectively referred to as Down syndrome.
Solidarity Lyngdoh, a resident of Laitkor, shared her experience of raising her 16-month-old daughter with Down syndrome.
Speaking on the sidelines of an awareness programme organised by the Indian Academy of Pediatrics Meghalaya at Ganesh Das Hospital here on Wednesday, which laid emphasis on sensitising the public on Down syndrome, she said, “Hearing her diagnosis has affected us a lot as parents, especially how to deal, what her features were. Will she be able to have a mainstream school, inclusive education and many other questions, but having her, it was such a blessing. She has opened my eyes to the beauty of differences in diversity.”
“So, it doesn’t mean that she is having Down syndrome and she is a bit less compatible. But we should embrace differences, find beauty in their joy and appreciate the little milestones that she carries,” she added.
The programme, held in collaboration with District Early Intervention Centre, East Khasi Hills, and Ganesh Das Government MCH Hospital, aimed to provide support and guidance to families affected by the condition, and also to educate the public at large.
Dr H Giri, a member of the Indian Academy of Pediatrics, while addressing the media, highlighted that Down syndrome is a complex medical condition that manifests from the time of conception.
Down syndrome babies are born with multiple birth defects, intellectual disabilities, and characteristic facial features known as Down’s facies. Common birth defects include heart anomalies, hypothyroidism, and hearing/visual problems, along with developmental and intellectual issues.
Dr Giri emphasised that early detection during pregnancy or after birth enables doctors and caregivers to prepare for the child’s care post-birth.
In 1990s, the life expectancy was nine years, but now it has increased to 60 years, she also added that with proper treatment and care, it is possible for children detected with the syndrome to lead a ‘near-normal’ life.
There have been incredible advancements in pregnancy screening to detect these complications, including the Serum Marker testing like the Combined Test, Double Marker, Triple Marker, and even the Quadruple Marker Test to the cytogenetic. There is the Next Generation Sequencing, an advanced approach to DNA-Sequencing.
Lyngdoh also praised initiatives like the Rashtriya Bal Swasthya Karyakram (RBSK), which focuses on early identification and intervention for children with various health conditions, including Down syndrome. She heaped praise on Ganesh Das Hospital and district early intervention centres for providing support and guidance to parents like herself.
Lyngdoh urged society to be more accepting and supportive of individuals with Down syndrome. She emphasized that with early intervention and medical support, children with Down syndrome can lead happy and fulfilling lives like any other child.