Hirschsprung’s disease: paediatric onset, but often lifelong

Mrs S, a 67-year-old retired enrolled nurse with a social sciences degree, is a regular customer to the pharmacy. She suffered delayed passage of meconium for four days after birth and was prescribed liquid paraffin at one week old.

A range of terms has been used over the years to describe her condition, including lazy bowel, spastic colon and intestinal stasis. She was also diagnosed with irritable bowel syndrome and treated with fibre, which made her condition worse. Only four years ago, Mrs S was diagnosed with slow transit constipation and probable Hirschsprung's disease following colonic transit studies and open rectal biopsy. According to Mrs S, nine of her relatives have this genetic condition. Many of her relatives (including two siblings) had died in utero and in early life. One of her sisters was diagnosed with Hirschsprung's disease and has recently undergone a laparoscopic total colectomy with ileorectal anastomosis. Mrs Sis contemplating undergoing the same procedure, as she is 'sick of being in pain 24 hours a day from birth'. She takes a high dose of Osmolax (34g daily) and needs to evacuate her bowel 10-18 times a day, each time expelling a small amount, resulting in excessive flatulence, faecal explosions and messy cleaning up. As a result her colonic and pelvic muscles become fatigued and painful. Because of the abdominal pain, she was prescribed gabapentin, which has provided some relief. Hyoscine butyl bromide was tried, but was ineffective.