May is Prader-Willi Syndrome Awareness Month!

Well, it won't show up on your general calendar...yet!  In honor of PWS Awareness Month, here are some facts about the syndrome:

1. Prader-Willi syndrome (PWS) is the most common known genetic cause of life-threatening obesity in children.
2. How common is PWS?  Well, estimates range from 1:8,000 births to 1:25,000 births, with the most likely figure being 1:15,000 births. Taking the most current population figures for just the United States, and using the 1:15,000 births ratio, this means that in the U.S. alone there are almost 21,000 individuals with PWS.  Many cases go or have gone undiagnosed or misdiagnosed because genetic testing for PWS is not always immediately suggested by neonatalogists or pediatricians caring for infants with clinical signs of the syndrome.
3. All individuals with PWS generally experience low muscle tone, short stature if not treated with growth hormone, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity.
4. The early stage of PWS - up to approximately 2 years of age - is characterized by "failure to thrive".  Infants are generally unable to feed via bottle or breast and many parents rely on a naso-gastric or gastric tube for feeding; weight gain is slow and the chew-swallow-breathe reflexes take time to develop.
5. Between the ages of 2 and 6, children with PWS generally begin to experience "hyperphagia", or a constant belief that they are starving.  This leads to extreme anxiety about the next meal or snack, even as the child's body (the hypothalamus, specifically) is unable to register that the stomach is full.  Thus, individuals with PWS must have constant supervision, especially in any situation where food is accessible.
6. 
   Prader-Willi syndrome was first formally described in the medical literature in 1956 by Swiss endocrinologists A. Prader, H. Willi, and A. Labhart. The genetic abnormality was discovered in 1981 by David Ledbetter while he was a graduate student.
7. Individuals with PWS are (generally speaking) on growth hormone therapy, which means that a daily injection of growth hormone is administered.  GH therapy in individuals with PWS helps to increase lean body mass, decrease body fat, increase bone mineral density, and normalize height.  GH therapy has also been shown to improve strength, agility, and motor-skills development. (S has been on GH therapy since she was 10 months old.  She would not be doing as well as she is without it - but there are families where GH therapy has been used for their child and there weren't the most positive results.  To date GH is the only "pharmaceutical" help which has been proven to benefit individuals with PWS.  However, it is not a cure.)

I am writing this post on a day when, as I checked my e-mail early this morning, I read a message from a PWS chapter leader in another state.  She relayed the sad news that a 31-year-old woman with PWS passed away over the weekend.  The parents, while devastated, have made the extremely compassionate and giving decision to donate their daughter's brain to research. 

This young woman was only 31.  That is so, so young.  In my own state, our PWS community lost a young woman - just 21 years old - in November.  Another adult with PWS, who I think was only in her 50s, passed away a few weeks ago.  My heart goes out to their families....their childrens' lives were far too short.

When I hear of any individual with PWS passing away, their relatively young ages always, always make me incredibly sad.  My heart is gripped with fear and unquantifiable loss, when I think of how PWS may, someday, take my own daughter's life.  I may outlive my youngest child.  Someday this syndrome may leave my older daughter without any living siblings.  PWS sucks.

For more information about Prader-Willi Syndrome or to donate towards research and quality-of-life projects, please visit the website of PWSA(USA), http://www.pwsausa.org/.

Thank you for reading!

Later,

Jen