ADDITIONAL INFORMATION
HSCR cannot currently be prevented or detected prenatally, but can be treated surgically shortly following birth. In between the aganglionic and ganglionic tissue lies the transition zone, where ganglia exist but are nonfunctional. Pull through operations involve the removal of this transition zone and aganglionic tissue, followed by the joining of the remaining ganglionic gut tissue and the rectum (8). SSHD might actually have an advantage over normal HSCR, since a large section of what would normally be removed during the procedure can still be used. This gives the surgeon a greater length of gut to work with, improving the success and reducing the negative after-effects of a pull through operation (1).
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Unfortunately, about 75% of patients who received the pull-through procedure exhibited atypical symptoms like constipation and incontinence (5), but neither are worse than the effects of retaining the aganglionic tissue, which were outlined in the introduction. These negative effects create a need for a support group like the Pull-Thru Network (listed below).
Strangely, a disease similar to HSCR presents in horses, mice, and sheep. Known as "Lethal white syndrome", it has very similar pathological symptoms as HSCR in humans (like intestinal aganglionosis), but horses with this disorder also present with a completely white coat and blue eyes. Lethal white syndrome in animals has been linked to a genetic mutation in a specific gene that causes the disorder when an animal is homozygous for that particular gene (9). Perhaps that is an area of research that could yield results on the cause(s) of HSCR in humans. Right now there is no definitively known cause for HSCR, and therefore no known cause for SSHD.
WHERE TO FIND HELP
Australia:Australian Paediatric Surveillance Unit
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Bowel Group for Kids
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Colorectal Surgeons Sydney
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International:
International Foundation for Functional Gastrointestinal Disorders
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Pull-Thru Network
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