Thrissur, July 26 (IANS) A Kerala couple, Gireesh and Sajini, both carriers of Tay-Sachs disease — a rare genetic disorder — are happy after a hospital helped the mother to deliver a baby free of the fatal disease.
The couple had lost three of their babies due to the disorder earlier, before having their first baby in May this year.
Tay-Sachs is a rare genetic disorder that causes a progressive deterioration of nerve cells and, mental and physical abilities. It begins in children around seven months of age and usually results in death by the age of four.
The Kodungallur based Craft IVF Hospital’s Genetic Research and Diagnostic division – Argenomics, led by Ritu Nair, was able to achieve this rare feat with their intensive research in ensuring birth of babies without genetically transferred disorders.
Gireesh, the father, said: “As parents, we went through severe trauma when we lost three of our children to the disease.”
“We were scared to try for another baby and were looking out for some kind of a miracle. With the dedication of Nair and her team, today, we are proud parents of a three month old daughter and for us the most relieving fact is that she’s free and safe of such a rare and deadly genetic disease,” said Gireesh.
Nair said: “Gireesh and Sajini are both carriers of Tay-Sachs disease. We suggested they go for In vitro Fertilisation (IVF). We then conducted Pre-implantation Genetic Diagnosis (PGD) and Pre-implantation Genetic Screening (PGS) in Argenomics that allowed for the screening of embryos during IVF in order to identify abnormalities in the chromosomes.”
She also said of the many embryos obtained after IVF, they selected the embryo that had healthy disease free Tay-Sachs mutation.
“The mother was continuously monitored throughout her pregnancy by constantly checking on the baby’s chromosomes through Non-Invasive Pre-natal Testing (NIPT). She delivered a perfectly healthy baby free of any possibilities of genetic disorders in May 2016,” added Nair.
Tay-Sachs is caused by the absence of an enzyme encoded in a group of genes attached to the chromosome no.15.
In children affected with the disease, the destructive process begins in the foetus during early pregnancy. However, a baby with Tay-Sachs appears normal until about six months of age when its development slows down.
By two years, most children experience recurrent seizures and diminishing mental function.
The infant gradually regresses, and is unable to crawl, turn over, sit or reach out. The child becomes blind, cognitively impaired, paralyzed and non-responsive.
By the time the child is three to four years old, the nervous system is so badly affected that death usually results by the age of five.
There is no cure for Tay-Sachs and the treatment involves managing the symptoms of the disease.
Craft IVF Hospital is today a pioneer in Genetic Research and Diagnosis. It has developed the country’s first in-house medical genetics laboratory and has tested the maximum number of chromosomal and single gene disorders in the country.