background participants

Participant 197

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Female, age 9, with childhood-onset chronic constipation, loss of bladder and bowel control (urinary incontinence and encopresis), and mild global developmental delay.

Date of Report

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 has been diagnosed with ADHD Inattentive Type and Specific Learning Disability in Reading, Mathematics and Written Expression. She has also been diagnosed with Developmental Coordination Disorder.

The participant’s mother is similarly affected (see Participant 200).

Symptoms / Signs
  • Mild global developmental delay
  • Growth delay during pregnancy (intrauterine growth retardation)
  • Childhood onset chronic constipation
  • Childhood onset soiling (encopresis)
  • Loss of bladder control (urinary incontinence)
  • Inability to completely empty bladder (urinary retention)
Current Treatments
  • Ex-lax
  • Miralax
  • Motegrity
  • Pelvic floor physical therapy exercises
  • Ritalin
  • Sacral neurostimulation
Prior Treatments
Considered treatments
  • Sacral neurostimulator (InterStim)
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
  • Mitochondrial disease
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
see gene page
see gene page
see gene page
see gene page
see gene page
Autosomal dominant

If this participant sounds like you or someone you know, please contact us!


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