What is Hirschsprung's Disease? An ERNICA animation for parents and families
Educational content from recorded physician discussions — not medical advice. Talk to your (or your child's) care team about your situation.
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What the experts said
Hirschsprung's disease is also known as aganglionosis of the colon
Peristalsis requires ganglion cells in the bowel wall
Ganglion cells cover the full length of the bowel and form during a baby's development before birth
Some babies are born with a bowel wall that is not entirely covered by ganglion cells, making peristalsis difficult
Hirschsprung's disease is classed as a rare birth defect
The cause of Hirschsprung's disease is unknown
Hirschsprung's disease can be associated with Down syndrome
Hirschsprung's disease can be associated with genetic defects involving the RET gene
In Hirschsprung's disease, the absence of ganglion cells always starts at the rectum end of the bowel
Most of the time, ganglion cells are missing from the end of the colon
Ganglion cells can be missing from more of the colon or the small intestine, but this happens less often
Babies with Hirschsprung's disease may not pass meconium or passage may be delayed
Meconium is a substance that builds up in a baby's bowel when it is still developing in the womb
Babies with Hirschsprung's disease may experience vomiting, a swollen belly, and a buildup of feces
Sometimes babies don't show symptoms straight away after birth; symptoms can present later when the baby starts to eat solid food
Feces that have built up in the colon can be removed through a rectal cannula in a process called irrigation
If irrigation is not sufficient to relieve the bowel or other complications arise, it may be necessary to create a stoma
Diagnosis of Hirschsprung's disease is confirmed after birth by taking a tissue sample from the baby's rectum through the anus, a procedure known as rectal biopsy
When the length of the affected bowel area is known, surgery can be planned
Before surgery, irrigations can help to relieve the bowel and parents can be trained to perform these at home
In surgery, the affected part of the bowel is removed, which helps to bring back bowel movement
If the child has had a stoma, this can be surgically closed
Babies with Hirschsprung's disease should be treated at a specialist center by a dedicated team with knowledge and experience of the condition
Although surgery can help relieve symptoms, babies may experience ongoing difficulties that require different types and levels of care
Post-operative difficulties may include constipation and lack of control over bowel movements
Sometimes support with bowel management is necessary after surgery
Structured regular follow-up care by a multidisciplinary team is essential for babies with Hirschsprung's disease
Identifying any complications or difficulties early is very important
Even if a child has symptoms after corrective surgery, these can improve as they grow older
Peer support can be accessed through patient and family support groups