Getting to the bottom of Hirschsprung’s Disease

Ms Chary Richards1

1Children’s Hospital, Westmead, Westmead, Australia

Hirschsprung’s Disease is characterised by an absence of myenteric parasympathetic, intramural ganglion cells in the distal colon, resulting in a functional obstruction of the bowel.  A Danish physician Dr Harold Hirschsprung first described the disease in 1886.  This condition occurs in approximately 1 in 5000 births with greater incidence in boys than girls.  The cause of HD is unknown although there is a familial tendency for HD to affect siblings or offspring.  This condition may also be associated with other anomalies such as Down’s syndrome.  Failure or delay in passing meconium is usually the first observable sign. Other signs and symptoms may be abdominal distension, signs of bowel obstruction, chronic constipation or diarrhoea.  Older children may exhibit signs of bowel obstruction, chronic constipation or diarrhoea.  My oral presentation will follow an infant/child’s journey from diagnosis to achieving stooling effectively.

I will discuss the diagnostic tests performed to evaluate the extent of Hirschsprung’s Disease and the surgical options.   It will highlight the day to day procedures parents are asked to perform to help their baby pass stools effectively.  I will also outline procedures and common problems the baby will face in a clinical environment. This case study will also illustrate the impact on the parents with regards to body perception, ongoing care and social implications of a rarely discussed and poorly understood condition.  The infant/child’s 1st year of diagnosis is complex and at times challenging for clinicians and families but also rewarding.


Biography:

Chary has been a CNC at the Children’s Hospital, Westmead  for the past 7 years. One aspect of her position is being part of a multi-discipline colo-rectal team working with children and their families following diagnosis of Hirschsprung’s Disease.

AASTN

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