Season's Greetings

Isn't it amazing how the end of the year sneaks up on you before you have time to say Prader-Willi Syndrome!  And isn't it lovely that no matter how weary you feel, no matter how apprehensive you might feel about the coming festivities, your son, or daughter (with PWS) still feels excited, year after year, at the promise that something good will be coming their way? 

My daughter, now 26, buys and sends more Christmas cards than anyone I have ever known.  She also buys more presents for more people than I care to count.  She starts in August - one of life's 'planners'.  Although you might think that she gets more joy from giving than receiving, she keeps a careful tally of who has not reciprocated...

This year her cat, who is currently boarding with us, has joined the festive season of gift-giving.  Over the past twelve days, the cat has brought us gifts.  Usually in the small hours of the morning.  He loudly proclaims his generous bounty, calling for us to come and see.  He keeps this up for a while until the calls tail off in disgust with our apparent disinterest.  In the morning, we are greeting with her gift - usually a baby rabbit.  There have been three of these so far; the poor little things, not a scratch upon them, but stiff and cold.  I give them an appropriate burial.  Last night, there was the usual calling out to come and see his latest gift, and again, no answer from those whom he wished to impress, so in the morning I took care as I walked barefoot down the hallway, looking for the small offering.  Nothing to be seen.  Hmm, I thought, I wonder what that would be about then?  I didn't have long to wait; a small brown mouse with a long twitching tail and little black eyes was regarding me silently.  Alive!  A living gift!  Unhappily, I couldn't accept this little gift either, and managed to throw a towel over the mouse and take him outdoors to release.

It is hot and humid with squalls of rain here, a far cry from the storms of Europe, but wherever you are, and whatever you are doing over this season, we all hope you stay safe and well, have a lovely time with your families, and that 2011 brings you peace and joy.

PS.  (Dec 23rd)    This morning's gift was a little yellow bird...
PPS:  (Dec 28th)  This morning was a live mouse...

Congratulations South Africa PWSA!

Rika and family (with Linda Thornton)

The Willowton Group, marketers of edible oil products, decided earlier this year to donate 4 million Rand (USD590,362, or E420,719) to 40 deserving charities throughout South Africa to commemorate its 40^th anniversity.  Three ceremonies will be held this month at which the selected charities will receive their cheques, the Prader-Willi Syndrome Association of South Africa, being one of the lucky forty.  This extremely generous donation was done by the company which is enjoying substantial growth in its industry, so as  “not to forget the impoverished communities across the country”, said director Ali Akbar Moosa and chairman Abdul Razak Moosa.

President of the South African PWS Organisation, Rika du Plooy, and her colleagues, are “over the moon” with the donation, saying that this will certainly help to put PWS on the map in South Africa, and they will be promoting awareness of the syndrome in the hope to identify the many families where there is a child, or adult, yet undiagnosed and needing their help and support.

Congratulations, South Africa, from all at IPWSO!!

Can the satiety mechanism in PWS be controlled?

Kate McAllister and colleagues at the Cambridge University, UK, have been involved in researching the brain's ability to appreciate satiety.  This video clip  http://www.youtube.com/watch?v=ofgjtGra3I8  shows an interesting perspective on looking at how the on-off switch for fullness, particularly in Prader-Willi Syndrome, might be regulated.  Much research has been done on looking at the genetics of obesity, and the genetics of PWS could well hold the key to discovering why the desire to eat over-rides any control mechanism. 

Please have a look at this YouTube clip on research being done by Cambridge University on monitoring the brain's ability to appreciate satiety. If they can implement the conclusion they are suggesting, it is very exciting news.  To contact Kate directly: km511@medschl.cam.ac.uk

New Video "Parental Stress When Your Child has a Developmental Disorder"

A collaboration of the PWS Association (USA), the Angelman Syndrome Foundation Inc, and the International Rett Syndrome Foundation as a genetic partnership, has developed a videotape of Dr Paige Powell's presentation on "Parental Stress when your Child has a Developmental Disorder: Helpful TIps and Coping Strategies.  The link to this is:

http://www.bioedonline.org//workshops/evening-genetics.cfm

Any family with a child whose behaviour is challenging, will find this video of coping stragegies and helpful tips, extremely useful.  So often we forget how important it is as the primary caregiver to look after ourselves first.

Further information on Rett Syndrome & Angelman Syndrome can be found through these links:

Rett Syndrome:

http://www.rettsyndrome.org/

Angelman Syndrome

http://www.angelman.org/

Greetings from Cuba!

Hola, and greetings to everyone from Cuba where we have just held our first family group meeting!

Over the past years we have struggled to get information about Prader-Willi Syndrome, and it wasn't until I was able to attend the PWS International Meeting earlier this year in Taipei, that the idea of starting our own Cuban Family Group  become a reality.  It was so exciting in Taipei to be with other professionals  who all had such a great interest in understanding the syndrome and to meet so many parents who also had children with PWS.  Just knowing you are not alone in the world is heart-warming.  Learning that there is so much research being carried out by scientists, and hearing about the management programs for care-givers and parents, is so important.

So, together with strong support from IPWSO, we started to work on having our very first PWS meeting in Cuba.  We were aiming for September, which was only four months after the Taipei conference.  We did not aim to have a great number of people, just the few parents along with doctors, and psychologists.  On September 22 - 24th, we met for the first time!  It was a great experience, sharing with other families.  We concentrated on the topics of food, behavior and the management of PWS. This was such an important meeting for us because it was our first step.  We called the meeting "Day by Day", so that we can concentrate on the best steps forward for our families in Cuba.

We would like to say thank you to Caritas Ciego de Avila, the PWSA of USA, and the Association Madrilena S. Prader-Willi, for their unconditional help.

Loisel Bello, MD

Out of the mouths...

There are times when the phrase “out of the mouths of babes and sucklings” comes often to mind when working and living with those with PWS.  They have a disconcerting way of telling you how they see things, and presenting a wisdom that is way beyond their years.  It is so fascinating to hear some of the things they say, and to recognise them as a truth.  More often than not, it is not what we would have said ourselves, and quite often it is not what we particularly wish to hear, but they all seem to have this knack of getting under our skin – no matter what language they talk!

The young girl who sat with her dying grandfather, holding his hand, not wishing to be moved from his bedside, seemed to know what to do without saying it.  Many of us cannot do this.  My own daughter who put her most favourite soft toy into my mother’s coffin, along with a small posy of lavender. 

There is the young boy who at four years old, was overhead by his mother saying to the wide-open fridge, “I’m thirsty.  What can I have?  I can’t have that, and I can’t have this, but I can have iced tea.  I will go and ask Mummy”, and, closing the door, he went to find her.

The young 6 year old who, on coming home one day found that locks had been put on the pantry and cupboards.  Her older sisters had stormed on by with words like “How can you possibly do this to us – how can we ever invite friends home?”, but she simply said “What bright, shiny locks.  Did you put those on, Mum?  You are clever!” Of course, her thinking was that her food was now safe and her sisters wouldn’t be eating it all!

The other day I was told of an engagement card sent by the younger sibling with PWS to her older sister and her fiancé.  Inside were the words, “I hope you will always be happy.  I hope you will respect each other.  I hope you never break each others’ hearts.”

Sometimes you just have to slow down to hear what is important in their world, to take time and listen.

Greetings from Czechslovakia

Our IPWSO awareness booth has been unexpectedly very busy today; maybe because it was only a half-day.  I had to leave it to Giorgio to manage, plus take down the booth, as I had to get to the Czech Republic meeting where I was speaking.  The parent delegate for Slovakia and her family spent all night on the train to get there!  It was a wonderful day meeting the families and children; they had a good translator, and the parents had a lot of questions after my talk.  The younger children are all very slim and on growth hormone, in sharp contrast to most of the older children/adults who did not have that option.  After all of my medical data, Giorgio balanced it with his wonderful power point on Daniele and ended the day by singing “Ich Auch.”   

Giorgio with an admirer!

I fell in love with one, cute young woman named Natalia.  We became fast friends and she wanted to sit by me at dinner.  When Giorgio sang and played the guitar after the meal, the look on her face was sheer rapture.  During one song, she was so moved she started crying, which made me cry.  What a gift Giorgio has – and is willing to share. 

Tomorrow we go speak again at the conference which ends at 1:30 and then we will drive straight through (9 hours) to Italy.  At last a few days to rest up!

Janalee