Saturday, December 15, 2012

Jig-saw puzzles

Jig-saw puzzles: fascinating, absorbing, time-wasting, good for fine motor-skills, they follow a pattern or a picture which can often be seen on the box, but many people, including our own special lot, can solve a puzzle without looking at the picture.  But where to begin?  Pieces may be scattered all over the table, upside down, some in little piles according to their straight edges, colours, the hunt for the corners.  It looks so confusing!  I've watched some of our kids (of all ages) with PWS as they concentrate on the detail, looking intently at the cut of the piece, its colour and shape, and automatically find where it fits.  It's amazing how they do it, and if you watch carefully there is a kind of rhythm - they pick up a piece, examine it, absorb the information it portrays and either put it exactly where it belongs, or put it carefully down to be used at another time.

Recently, I watched a trail of emails that had come into IPWSO starting with Dr Kate Woodcock from Birmingham who had gone to Bejing as a Marie Curie Postdoctoral Research Fellow, wanting to research PWS in China.  We know the difficulty of establishing a PWS Association there (gatherings and groups of people are not encouraged), and we know that the practice of one-child families where children with disabilities are not welcomed.  So the jigsaw pieces are scattered, most are still upside-down, and there don't seem to be all the corner pieces.  Where to start?

One corner piece comes into view - a clinical geneticist, enthusiastic to try to do more to help the families of newborns.  Another corner piece and pieces that fit:  he is also a paediatrician so he gets to meet some of the children with PWS.

A stumbling block:  he doesn't communicate in English, so some more searching among the pieces of the jigsaw and up comes Taiwan, but there are no joining pieces until a piece with IPWSO turns up.  Kate makes the connection and Giorgio provides the next piece - the Taiwan PWS Association.  More pieces reveal names of professional delegates in Taiwan who provide the language connection, and so the jig-saw starts to be solved.  Piece by piece, name by name, country by country.

It's a massive jig-saw, and, thankfully, IPWSO has many of the pieces you might need!

The end of the year is nigh, and many of us will be celebrating our holidays and holy days.  May your time with families and those whom you love, be happy and joyous and may the pieces of your jigsaw always fit!


Monday, December 3, 2012

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!