New Delhi, India: A medical mystery that had puzzled doctors for 14 years was recently solved with the help of an ancient custom of preserving umbilical cords. In 2010, a couple from Haryana, who we will refer to as Prakash and Sarita, lost their first baby after he developed complications and succumbed to pneumonia and sepsis at just six weeks old. The couple faced further heartbreak in 2021 when their newborn, born via caesarean section after four previous miscarriages, also passed away due to respiratory failure.
The breakthrough in understanding the cause of these tragedies came when genetic analysis of the preserved umbilical cord from their first baby revealed a mutation in the CTFR gene, which is linked to Cystic Fibrosis. Further testing confirmed that both parents were carriers of this mutation, and the combination of inheriting mutated genes from both parents led to the severe complications that tragically affected both babies.
Dr. Ranjana Mishra, a senior consultant in medical genetics at a Delhi-based IVF clinic called Seeds of Innocens, explained that while having one mutated gene may not cause symptoms, inheriting mutated genes from both parents can lead to the manifestation of the disease and its associated complications. This discovery not only provided closure for Prakash and Sarita but also shed light on the importance of understanding genetic factors in cases of unexplained illnesses or deaths in newborns.
The use of umbilical cord preservation to unravel this medical mystery highlights the potential benefits of practices rooted in tradition and culture, demonstrating how ancient customs can intersect with modern medical advancements to provide answers in challenging cases. By combining genetic analysis with clinical observations, medical professionals were able to piece together the puzzle that had haunted Prakash and Sarita for over a decade, offering them a deeper understanding of the genetic factors at play in their family’s medical history.
Moving forward, this case serves as a poignant reminder of the complexities of genetics and the crucial role they play in shaping health outcomes. It underscores the importance of thorough genetic testing and counseling, particularly in cases where there is a history of unexplained illnesses or deaths, in order to prevent future tragedies and provide families with valuable insights into their genetic risks. The resolution of this longstanding mystery not only brought closure to Prakash and Sarita but also highlighted the potential of genetic research to transform our understanding of rare diseases and the intricate web of factors that determine health outcomes.