Question:
Female, 67 years old, Deletion subtype
My sister with PWS (very high functioning) is scheduled for her first colonoscopy. It is just routine and there is no family history of colorectal cancer. Is this procedure absolutely necessary? Any additional advice or recommendations if the procedure is necessary.
Nurse Lynn’s Response:
Routine colon cancer screening is generally recommended by most medical guidelines up to age 75, especially if no previous screening has been done. However, the method of screening can vary, and in someone with PWS, even if she is very high functioning there may be additional considerations that make less invasive options more appropriate.
Since your sister has no family history of colorectal cancer and this is just a routine screening, it’s reasonable to consider alternatives to colonoscopy. Cologuard, for example, is a non-invasive, at-home stool DNA test that looks for blood and genetic markers associated with cancer. It is typically done every three years and is a validated option for individuals at average risk. If this test returns a positive result, then a colonoscopy would be necessary for further evaluation.
Additionally, the preparation process—including fasting and bowel cleansing—can be especially challenging for individuals with PWS due to behavioral and emotional sensitivities. If your sister has chronic constipation, abdominal discomfort, or other gastrointestinal symptoms—which are more common in PWS—a colonoscopy may offer useful diagnostic information. However, if she is asymptomatic, non-invasive options like Cologuard may be preferable.
The best approach is to discuss other options with her primary care provider and make a shared decision based on her health history, functional abilities, and personal comfort.
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Jennifer Bolander has been serving as a Special Education Specialist for PWSA (USA) since October of 2015. She is a graduate of John Carroll University and lives in Ohio with her husband Brad and daughters Kate (17), and Sophia (13) who was born with PWS.
Perry A. Zirkel has written more than 1,500 publications on various aspects of school law, with an emphasis on legal issues in special education. He writes a regular column for NAESP’s Principal magazine and NASP’s Communiqué newsletter, and he did so previously for Phi Delta Kappan and Teaching Exceptional Children.
Evan has worked with the Prader-Willi Syndrome Association (USA) since 2007 primarily as a Crisis Intervention and Family Support Counselor. Evans works with parents and schools to foster strong collaborative relationships and appropriate educational environments for students with PWS.
Dr. Amy McTighe is the PWS Program Manager and Inpatient Teacher at the Center for Prader-Willi Syndrome at the Children’s Institute of Pittsburgh. She graduated from Duquesne University receiving her Bachelor’s and Master’s degree in Education with a focus on elementary education, special education, and language arts.
Staci Zimmerman works for Prader-Willi Syndrome Association of Colorado as an Individualized Education Program (IEP) consultant. Staci collaborates with the PWS multi-disciplinary clinic at the Children’s Hospital in Denver supporting families and school districts around the United States with their child’s Individual Educational Plan.
Founded in 2001, SDLC is a non-profit legal services organization dedicated to protecting and advancing the legal rights of people with disabilities throughout the South. It partners with the Southern Poverty Law Center, Protection and Advocacy (P&A) programs, Legal Services Corporations (LSC) and disability organizations on major, systemic disability rights issues involving the Individuals with Disabilities Education Act (IDEA), Americans with Disabilities Act (ADA), and the federal Medicaid Act. Recently in November 2014, Jim retired.