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To celebrate PWS Awareness Month, PWSA | USA has added new merchandise to our online store! Show your PWS Pride during the month of 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 on the image above. You can also shop our new PWSA | USA All Star customizable shirts and onesies by clicking here!

Do you know someone who deserves recognition for spreading PWS awareness? Throughout May, we want to spotlight those in our community for the efforts they are making and the strides they are taking to help inform others about our rare disease community. If you know someone who regularly shares their story or information on their social media or in a blog, hosts an inspirational podcast, organizes events to support the PWS community – we want to shine a light on them! Simply click on the button above, fill out the form, and submit an image if you have one to share. For any questions, please reach out to us at communications@pwsausa.org.

There are many ways you can help raise awareness for Prader-Willi syndrome during the month of May and all year long! We have highlighted 15 easy ways to take action, including reaching out to your elected officials, becoming a volunteer or parent mentor, and hosting your own Wear Jeans for Rare Jeans fundraiser! Click on the button above to learn more.

Become A Family Mentor 3, Prader-Willi Syndrome Association | USA

Share Your "Hope" Video!

Send PWSA | USA a video of yourself, your family, or your loved one living with PWS saying the word “Hope” and then the phrase “United in Hope”! We will share these Hope videos on our social media pages throughout PWS Awareness Month to inspire others AND in a special video at our 37th National Convention. Upload your video in the form below and contact communications@pwsausa.org with any questions. Thank you!

Download PWSA | USA's PWS Awareness Month Facebook Cover Photo and Profile Graphic

PWS Spotlight AnneFricke 1, Prader-Willi Syndrome Association | USA

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:

  1. Gene Deletion: In many cases, critical genes on a portion of the father's chromosome 15 are missing. This is the most common cause.
  2. Uniparental Disomy: The child has two copies of chromosome 15 from the mother instead of one from each parent.
  3. 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.