When Rajesh and Kavita K’s twins Lalita and Prerna (all names changed) were born, they were ecstatic. The couple in early 30s looked forward to a happy family life and raise their daughters to the best of their capacity.
However, life had different plans for Rajesh and Kavita. They soon found themselves visiting doctors, trying to understand the medical condition that afflicted both the children. The twins have been diagnosed with Sanfilippo’s syndrome, a rare single-gene disorder that cannot be cured, unless an enzyme replacement is successfully done. Even then, the chances of survival beyond 20 years of age are slim for such patients.
“We knew our children were different. They never spoke but kept making different, loud noises. They wouldn’t sit in one place because were hyperactive. While they can understand everything we say, they do not respond in the way other kids do,” said a teary-eyed Kavita.
When Lalita and Prerna were two-and-a-half years old, they were taken to a doctor in Coimbatore as the family lived there before moving to Mumbai. “Every doctor recommended some therapy and that is what we started doing,” said Rajesh, who works as a driver in Kandivli. But all of this was assuming that the children only had a mere delay in development.
It was only when Kavita fell pregnant for the second time that they went to Dr Nikhil Datar, a senior gynaecologist in Mumbai. He asked her to undergo certain tests to confirm if the foetus too carried the same medical condition. When the foetus was detected with the same rare disorder, Kavita underwent an abortion.
The twins were then referred to Dr Samir Dalwai, president of Indian Academy of Paediatrics – Mumbai chapter, consulting developmental paediatrician and founder of New Horizons Child Development Centre (NHCDC). “The girls have a rare genetic disorder called Sanfilippo’s syndrome. It can be found in approximately six children out of a million,” said Dr Tanvee Priya, neurodevelopmental fellow at NHCDC.
Sanfilippo’s syndrome is a type of lysosomal storage disorder in which certain sugars cannot be broken down by the body. Children with this condition manifest mild physical traits. “Parents should look out for patterns of children having recurrent respiratory infections or abnormal delays in speech or other complications,” said Dr Priya.
An early diagnosis or detection is very beneficial in treatment. However, most doctors insist on a holistic intervention. Dr Dalwai said, “Early intervention is a key to cure. Doctors and healthcare professionals should be able to evaluate the patient in a holistic manner and not as individual evaluations as the latter can be tricky and may delay appropriate intervention.”
Though there is no specific cause for this disorder, a possibility in the case of Rajesh and Kavita could be that of consanguineous marriage. “We were told by one of the doctors that one reason for this syndrome is because we both are from the same family,” said Rajesh.
“Consanguineous couples have a higher chance of having a child with an inherited condition. This could be any condition including Sanfilippo’s or Thalassemia. But this cannot be said to be the only reason for inheriting any disease,” said Areeba Khan, genetic counsellor.
“If both set of parents are carriers of this syndrome-gene, there are 25% chances of the child inheriting the medical condition” said Dr Preeti K, Neurodevelopmental Fellow, NHCDC.