Apr 07, 2022
The participant was delivered via induced vaginal delivery at 37 weeks gestation. Delivery was induced because she was small for gestational age and her mother had poor weight gain. She had regular bowel movements until 15 months of age when she was noted to have intermittent stool withholding behavior.
At around age 3, the participant developed chronic constipation that did not respond to treatment with Miralax. She did not recognize the urge to urinate or defecate. Urodynamic studies showed that she retains a volume of urine, and x-ray examination of the bowels showed a significant amount of stool in her intestines.
Since then, she has experienced loss of bladder and bowel control. In addition, school teachers had concerns about her development very early on and referred her to early intervention. Her communication, gross motor, and fine motor skills were mildly delayed.
The participant’s mother is similarly affected (see Participant 200).
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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