Hirschsprung’s disease & genetics

Understand the connection

Hirschsprung’s disease is a congenital condition in which nerve cells are missing from part of the bowel. This can prevent that section from moving stool normally.

Follow the pathway

Dr. Purser discusses enteric nervous-system development and genes involved in that process. This developmental disorder is different from an acquired nutrient deficiency or a methylation result.

Bring these questions to your visit

Ask how the diagnosis has been confirmed and what specialist bowel care is needed. Genetic questions can support counseling but do not replace the surgical and digestive-care assessment.