Why PWCF is Important to Me

Prader-what? 

No, this can’t be right. 

These were my thoughts, or at least close.  Honesty, I don’t even remember exactly what went through my head as the doctor first gave us Ryan’s diagnosis.  Ryan…my sweet little baby…not even two weeks old and still in the NICU (that’s Neonatal Intensive Care Unit for those lucky enough not to know that acronym).  I was in shock.  I tried to hold back the tears as the doctor showed Dan and I something…was it a textbook, a pamphlet…I don’t know...it’s all a blur.  I do remember hours later telling, through tears, my best friend that I was going to have a short, fat, retarded child.

Fast forward almost ten years later and I will introduce you to my very bright son who is neither short nor fat.  How can that be you ask?  Were the doctor’s wrong?  No, unfortunately DNA tests don’t lie, Ryan does in fact have Prader-Willi syndrome; now not only do I know what it is, but the proper pronunciation, the various genetic sub-types and all the various complexities of the syndrome.  But most importantly I know that receiving a diagnosis of Prader-Willi Syndrome does not mean the child will be short, fat and retarded.

While my newborn baby lay in the NICU and a doctor was telling me he had this rare and very serious syndrome, I didn’t feel very lucky.  But, in fact we were extremely lucky.  That early diagnosis allowed us, thanks to the help and guidance of PWCF (Prader-Willi California Foundation) to change Ryan’s future.  We learned that growth hormone therapy was recommended and which specialist to go to.  We learned which therapies to request.  We learned about food security and behavioral management.  We learned about the myriad of health issues that come with the syndrome and how to monitor for them.  Daily, I am thankful for the families who back in 1979 got together and founded PWCF so that in late February 2004 I had a place I could call.  A place that through the years has been a vital source of continued information and support to our family and hundreds of others.

PWCF is the only organization in California that is exclusively devoted to improving the lives of individuals who have Prader-Willi syndrome.  Take a minute to digest that…the only organization.  There is no other organization here in California that has anywhere near the knowledge on PWS as PWCF.  Let me explain how crucial this fact is…

Had you ever heard of Prader-Willi syndrome before you heard it from me?  Odds are unless you are one of my fellow PWS parents whose child is older you never heard of it before I mentioned it.  And most of you still probably only have a cursory understanding.  Guess what?  That holds true for everyone we encounter, including therapists, teachers, dentists, nurses and yes, even doctors.  Oh sure doctors might have heard about it back in medical school, but they heard about it in the same lecture where they heard about dozens of other rare disorders so their actual working knowledge of the syndrome is zilch. 

This means that as a parent I am continually educating everyone who has any meaningful contact with Ryan about PWS.  I have to explain to the ER nurses and doctors how my child is different; I have to tell them how to treat my child.  I have to explain the intricacies of PWS to the therapists who work with Ryan or to any teachers he encounters.  I have to be the expert on all matters: medical, therapeutic, educational, nutritional, behavioral, and social.

You might wonder how I do it.  But you’ve probably already guessed it.  It has been because I have had the support of both PWCF and the national organization PWSA-USA.  Without their knowledge and support I shudder to think where our family would be today.  So let me say it again, PWCF is the only organization in California that is an expert on Prader-Willi Syndrome.  Here’s a sample of the things that the Prader-Willi California Foundation does:

• Produces educational conferences and training programs to help parents and professionals
• Funds PWS Multidisciplinary Clinics throughout the State
• Provides training programs for professionals such as teachers, group home staff, and workplace sites
• Provides the only camp in California that exclusively serves people with PWS and provides week-long respite to families
• Maintains in-person and online Support Groups and a 24-hour medical crisis line
• Produces educational DVDs, articles, books and brochures so that families have the information about PWS they need
• Provides advocacy services so that families receive the medical and support services they need
• Sponsors events and participates in events that help raise the public's awareness of Prader-Willi syndrome [such as having booths at music concerts, sporting events, and at physician education conferences]
• Helps physicians and teachers educate their students about PWS
• Holds family fun events with the L.A. Galaxy or the Oakland A's and, of course, the annual WALK events, so that families can just be together and have fun
• And the most important thing PWCF does... is provide HOPE and COMMUNITY. 

Getting Ryan’s diagnosis was devastating.  Even now, almost 10 years later, the tears come freely when I think about that day.  And when I talk to new parents and share their pain my own pain comes flooding back, but now I can share with new parents the hope PWCF gave me, the reassurance that it’s not as bad as it seems and that they are not alone on this journey.