A Story of Loss, Science, and a New Dawn
(Names changed) Arindam and Mousumi welcomed their first child after a long wait. Within three days, the baby developed repeated vomiting, poor feeding, lethargy — and passed away.
There was no clear answer.
Only grief.
Instead of remaining in uncertainty, they chose to seek clarity.
Genetic evaluation suggested the baby likely had Citrullinaemia, a type of Urea Cycle Disorder.In this condition, the body cannot properly eliminate ammonia — a toxic waste product. Ammonia builds up rapidly, leading to brain injury, vomiting, seizures, and sometimes sudden neonatal death.
Both parents were healthy — but carriers.
When two carriers conceive, there is a 25% chance the child may be affected.
For their next pregnancy, options were discussed:
- • Natural conception with early genetic testing (CVS)
- • IVF with preimplantation genetic testing
- • Donor gametes
They conceived naturally and underwent CVS at 13 weeks.
The result: the baby was unaffected.
A healthy child was born at term.
The cry they once feared losing forever finally filled the room again.
Key message:
- Unexplained newborn illness or death warrants genetic evaluation.
- Rare disorders are not a curse
- Informed decisions can change outcomes.
Sometimes, loss is not the end.
With awareness and science, a new dawn is possible.