To celebrate PWS Awareness Month, PWSA | USA has added new merchandise to our online store! Show your PWS Pride during May, and all year long, with our Hope defined, PWS is RARE but HOPE is NOT, and Ask Me… About PWS items, including shirts, sweatshirts, water bottles, coffee mugs, hats, onesies, and so much more. Get yours TODAY by clicking HERE.
Our Spotlight on Hope series strives to share and celebrate the successes of our loved ones. No success is too small! Whether they took their first steps, had a great time at the school dance, made a shot in a basketball game, or are working towards a goal, we want to celebrate it all. If you’d like to honor your loved one and share their success story with the PWS community, please fill out our Spotlight on Hope form HERE. We’re looking forward to celebrating with you!
You can help spread awareness and support by downloading our PWS Facts Toolkit HERE. Equip yourself with vital information to educate others about this complex condition. Together, let’s raise awareness, promote understanding, and advocate for the PWS community. Download the toolkit now and make a difference throughout May!
Download PWSA | USA's PWS Awareness Month Facebook Cover Photo and Profile Graphic
What is PWS?
Prader-Willi syndrome (PWS) is a variable and complex genetic neurobehavioral disorder resulting from abnormality on the 15th chromosome. It occurs in males and females equally and in all races. Prevalence estimates range from 1:15,000 to 1:25,000.
PWS typically causes low muscle tone, short stature if not treated with growth hormone, cognitive deficits, incomplete sexual development, problem behaviors, and a chronic feeling of hunger which, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity
PWS is rare and many have not heard of it. There are very few medical specialists familiar with PWS. However, PWSA | USA is here to offer support and hope to families who are newly diagnosed and throughout your journey with PWS! Our website is full of resources on PWS and we have a dedicated staff standing by ready to assist you 24-hours a day, 365 days a year.
Frequently Asked Questions
Prader-Willi syndrome (PWS) is a variable and complex genetic disorder resulting from an abnormality on the 15th chromosome. It occurs in males and females equally and in all races. Prevalence estimates range from 1:15,000 to 1:25,000.
Experts believe that PWS is a multistage disorder characterized by decreased fetal movement during pregnancy and low birth weight. As toddlers get older, they start gaining more weight. If we don't limit their calories, this can lead to excessive eating (hyperphagia) and obesity.
Obesity, hypotonia, and hypothalamic dysfunction are the main medical problems related to Prader-Willi syndrome. Other factors may include adverse reactions to medications, high pain tolerance, gastrointestinal and respiratory issues, lack of vomiting, and unstable temperature. Adrenal insufficiency may also occur. The main problem for people with this condition is extreme hunger, which can cause dangerous obesity.
Abnormalities on chromosome 15 cause Prader-Willi Syndrome (PWS). This happens 3 different ways:
- Gene Deletion: In many cases, critical genes on a portion of the father's chromosome 15 are missing. This is the most common cause.
- Uniparental Disomy: The child has two copies of chromosome 15 from the mother instead of one from each parent.
- Imprinting Mutation: In less than 3% of cases, there is an imprinting mutation on the father's chromosome 15. The genetic material is there but remains inactive.
PWS varies from person to person but commonly affects the brain, particularly the hypothalamus. This leads to symptoms like:
- Weak muscle tone (hypotonia) from birth.
- Poor sucking in babies, causing feeding difficulties.
- Swallowing problems with saliva and food.
- Overeating (hyperphagia) due to the brain not signaling fullness, potentially causing severe obesity. This starts between 2-4 years old.
- Short height if not treated with growth hormones.
- Bone issues like hip dysplasia and osteoporosis.
- Delayed sexual development.
- Learning difficulties and developmental delays.
- Frequent behavior problems.
- Sensitivity to certain medications.
- High pain tolerance, possibly missing injuries like fractures.
- Digestive problems, including constipation and rare cases of stomach issues after binge eating.
- Breathing problems during sleep, like sleep apnea.
- Trouble regulating body temperature.
Doctors use unique genetic tests that analyze blood and saliva to identify PWS. These tests can be costly as they require specialized lab processing.
The best first test is DNA Methylation Testing, which detects over 99% of PWS cases and checks for all three genetic subtypes. The FISH test is useful but can't identify all subtypes, so it's not the preferred initial test. Chromosome Microarray testing is also effective, especially for detecting chromosome deletions and uniparental disomy (UPD).
Prader-Willi Syndrome (PWS) usually doesn't run in families. It happens because some genes on chromosome 15 aren't working right. This happens if a part of chromosome 15 from the father is missing. It can also occur when the child gets two chromosome 15s from the mother or if the genes from both parents aren't working right.
Scientists are always looking for new ways to treat the syndrome so children and adults can have a better quality of life. However, at this time there is no cure for Prader-Willi syndrome.
In 2000, the Federal Drug Administration approved Human Growth Hormone (HGH) for patients with Prader-Willi Syndrome (PWS). Studies show that HGH offers several benefits. It not only helps increase height and reduce body fat, but also boosts stamina and bone mineral density.
Many individuals with the syndrome participate in a variety of therapies, including physical, occupational, and speech therapies.
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.
