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Abstract

July - September 2024 | Vol. 17 | Issue 3 | 25-27
A Day in the Life of a Geneticist
Sunita Bijarnia-Mahay
Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi
Address for Correspondence Email: sunitabijarnia@sgrh.com
 
Abstract
As I board my metro train to go home after a seemingly heavy day, I start reflecting on the day’s proceedings. It started with a message on WhatsApp- with news of the death of a baby whom I had seen a few weeks ago. The baby had come from another country, with a hope for treatment. He was brought to our Institute for a specific reason. The child had maple syrup urine disease (MSUD) and had been on dietary management. The family was looking for a one-time solution. I had guided them regarding the liver transplant, which was not an easy option, with all its difficulties and risks. Perhaps the family accepted this option as a way out and therefore went for it. Little did they know of its outcome! The baby suffered portal vein thrombosis, a known complication and could not survive (Zanetto et al., 2018).
 
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