Diagnosis: Prader-Willi Syndrome

"Diagnosis: Prader-Willi Syndrome"  How many of us have heard those four words and felt the world come crashing down?  It doesn't matter how well-prepared we might be, it still comes as a shock. It's something we don't want to hear; we want our baby to be perfect, of that there is no doubt, and dealing with the hard reality that there is something fundamentally wrong, is quite possibly one of the most difficult things to accept.  I remember it well.

But, imagine what it is like for parents living in a country that is unable to find a diagnosis for their child?  They know there is something wrong, they've been advised by doctors that there is nothing they can do, and they leave the hospital feeling hopelessly lost, vulnerable, scared and alone.  They need our support and the first thing that we can do for them is make sure they have the right diagnosis - as hard as this is going to be, once they are equipped with the knowledge of how to care and manage their child's life, having a diagnosis is the best foundation to start preparing.

IPWSO has always been able to fund the cost of this diagnosis.

 This is how it's done.   IPWSO's head office is in amongst the offices of BIRD which is the Baschirotto Institute for Rare Diseases, in Vicenza, Italy (you can read more about this here.)  The laboratory there does the diagnostic tests for just the cost of the supplies - E150 (about USD150).  Parents of children in countries where diagnosis is difficult to obtain, just need to put a drop of their child's blood onto a piece of blotting paper and send it by mail to BIRD  (instructions are on our website).  It's as simple as that.

After the test is done, we contact the parents and the medics with advice, information and support.  We know how difficult it is for parents hearing the news for the first time, but without a diagnosis, life could be even more difficult and precarious.

Since 2003, IPWSO has been able to fund over 420 tests.  It is one of the principle factors to our work in the world and one that we wish to continue.  We have been through some difficult economic times and we know we are not the only agency feeling the pressure, but we believe what we do in the world makes a difference, so we need to continue to raise our own funds.

Maybe you can help?  Donating €150 (or $190 USD) covers a diagnostic test and possibly saves a life.  Donating $1,000 USD will cover diagnostic costs for six children and help provide training for testing in that country.  Donations can be made by an individual or a group, and can be in honour or memory of a loved one who will be recognized for a year on our web page.

We would be so grateful for your contribution - and so will the family you help.  For details, check here  We hope, that with your help, we can continue to help others understand the uniqueness of PWS that we all face.

Thank you for understanding...and if you can Donate a Diagnosis, there will be one family in this world, better off for your generosity!