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

Children and adults with PWS in India



Dr. Anjan Bhattacharya



I am a Developmental Paediatrician in India's first Child Development Centre at corporate healthcare set up in Apollo Group of Hospitals (49 Hospitals in 10 countries).  

I believe, we have the resources and quality expertise to help PWS children so much better than what is in store for them with current prevailing situation in India.  I have worked in the field of paediatrics, neonatology and developmental paediatrics in India and the UK for the last 20 years, with 12 of those years being in the UK.  It was there that I developed special interest in Developmental Paediatrics and have developed an interest in the specific diagnosis and management of children with complex disabilities, including PWS. 

Through the creation of The Child Development Centre of Apollo Gleneagles Hospital, we can offer a significant number of children with disabilities and difficulties a unique service development. 

Through my association with IPWSO I recently lectured at the PWS Society of India's Annual Meeting in Kolkata.  I believe that through a better understanding of the syndrome, and by cooperating with organisations such as IPWSO, and by using tools such as this blog, we can develop a much better understanding, cooperation, and management of PWS. 

I can be contacted at

Dr. Anjan Bhattacharya +919830032968

MB BS(Cal); DCH (Lond); MRCP (Lond); MRCPCH (UK)

Senior Consultant Paediatrician (Developmental Paediatrics)

In-charge, Academics, Department of Paediatrics

CHILD DEVELOPMENT CENTRE

Apollo Gleneagles Hospital, Kolkata

Greetings from Prague

Dear IPWSO friends,

 Yesterday we had a very, very busy day at the IPWSO awareness booth and by 6.30pm I was hoarse with talking so much!  We have given away a tremendous amount of materials and the country that has stopped by our booth the most, has been China.  I am always so impressed with Giorgio’s ability to speak so many languages – including Chinese!  The attendees are also impressed and pleased.  I am also incredibly impressed with how he remembers the names of all of the professional delegates – many names that I cannot even pronounce.   On the other hand, I can deal with the medical questions – so we make a good team. 

 Today it was not as frantically busy at the conference, but we had a good, steady flow.  There are over 3,000 endocrinologists at this conference from 91 countries and we now have a doctor from Kenya to agree to be his countries professional delegate today!  A first for Kenya!  Some of the other delegates who have come for information have been from:  South Korea, Bangladesh, Ukraine, Estonia, Iran, Saudi Arabia, Egypt, Palestine, Morocco, Tunisia, Algeria, Liberia, Singapore, Malaysia, and Singapore.  It is a real “high’ for us when someone stops by the booth and is so eager to get our educational materials.  It is wonderful to know how much that simple act can help so many people.  Of course there were also many from European countries and South America.   

We went out to dinner with two really nice parents from the Czech group last night – this is the group to which I have been invited to give three presentations over this weekend. 

We are being most frugal and are staying at a hotel with no windows in our rooms, bars of soap the size of a quarter, and towels that look like dish towels.  J  Actually it is not so bad.  Better than when he housed Pam and me in a convent with no mirrors! 

Janalee

What about labels?

Something I'm really concerned about is how we use labels.  I know we can't do without them, and I know they do make a difference, but what worries me most is how we label.  It's one thing to know that my daughter has Prader-Willi Syndrome, after all, this is helpful information and will help get the services that she needs; will help caregivers to understand why she behaves as she does, and will help teachers know how to make sure she learns at her own pace; but my daughter is not Prader-Willi.

So often I hear people talk about their Prader-Willi student, or their PW son, or PW daughter, or PW kids.  Prader-Willi Syndrome is what they have.  It's not who they are.  After all, if your son or daughter had a club foot, you wouldn't introduce them as "I'd like you to meet my club foot daughter",  or talk about your club foot son, would you?  By putting a label in front of your son, daughter, student, client, resident, or patient, you are immediately judging them by the label first and conditioning your whole attitude towards that label instead of the person behind the label.  Labels are there to identify the services and needs that the person requires, not to take precedent over who they are.

It's so easy to say 'my son, or my daughter with PWS' .... don't you think?

Best Practice Standards and Guidelines for Care of those with PWS

Caregivers Conferences:

Akadamie Mont-Cenis Conference Center

In 2008 and again in 2009, IPWSO, with the Regens-Wagner Absberg Centre and Wittekindshof Centre, jointly hosted the first and second specialised Caregivers' Conferences in Herne, Germany.  These conferences were the brainchild of Pam Eisen, Hubert Soyer, and Norbert Hödebeck-Stuntebeck and at their invitation a group of residential specialists, teachers, and medical specialists met to hammer out a set of Best Practice Guidelines and Standards of Care for those with PWS.

 

Pam in 2007 opening the conference

 We did this in the manner of lectures followed by workshops where the topic of the lecture was discussed in depth.  We shifted around from group to group, working incredibly hard and, at times, well into the night, getting our conclusions ready for presentation.  This was the most hard-working conference we had ever attended, and there was no let-up!  Everyone was there for the best interests of those with the syndrome.  The environment of the Akadamie Mont-Ceris was perfect - it was like a small, self-contained village set inside a glasshouse.  It was extremely eco-friendly and its enclosed feeling made us unite as a family.
From these two conferences came the first draft of what we nicknamed "The Book", a compilation of the outcomes of all our work over the two years.  With the help of our consultants, Jan Forster, Hubert and Norbert, this compilation was put into CD format and is now ready for distribution.  This is still a work in progress and as such, is to be used as a guideline for best practices, according to each country's specfic needs and cultures.  We all realise that not every country in the world can achieve the dream goal of having the very best residential care for those with PWS, but these guidelines are the best starting-point to make dreams become reality.

 The full set can be purchased for E30 (includes postage).  Please contact IPWSO secretary in the first instance: linda.thornton@xtra.co.nz to order.  Or go to our website: www.ipwso.org

South Africa

I have recently returned from South Africa where I was invited to come and talk to parents and professionals about PWS.  I spent nearly a month there holding full day, and half-day workshops, and giving lectures at the university hospitals.  I started off in Cape Town where I met a great group of parents who were enthusiastic enough to want to start a branch of the PWS Association for the Western Cape.  I also spoke to a large group of medical personnel, and I also had time to spend looking around the beautiful coast of Cape Town.  Rika and Anli were wonderful tour guides, taking us down to the South Cape, and up Table Mountain, around the bays, and through some of the most beautiful scenery imaginable.  We (my husband came with me) were also hosted by Jannie and Tilla who took us to Stellenbosch and to Langenbaan reserve where we had our first taste of wildlife ("you have no four-footed native animals in New Zealand??"  they asked, amazed). 

Table Mountain

From Cape Town to Bloemfontein for two academic seminars, two workshops for parents and teachers,  and a chance to meet with many caregivers.  I quickly learned that there was quite a difference in delivering specialised services to those with disabilities, which is, of course, unique to each country.  But here it is special with some very dedicated and willing people wanting to do their best for those with PWS in spite of many difficulties.  We were hosted so well, and taken to see a wonderful programme designed to breed and help protect the cheetah, "The Cheetah Experience". 

Rika and Janet

From Bloemfontein to Richard's Bay where we were hosted by Janet, Brian and their lovely sons, and shown a little more of the extraordinary wildlife and scenery of Africa.  To Durban for an academic meeting, then to Johannesburg for another academic meeting, Pretoria for two workshops, and at the end of my trip, having spoken to well over 400 people, we went to the Timbavati Reserve in the Kruger National Park for 4 days.  To experience Africa like this is utterly wonderful, and I would return in a heartbeat!  Our most grateful thanks to all our generous hosts during our time in SA.  It was an inspirational time.

I know that IPWSO and South Africa will continue to explore all the possibilities of improving the lives of those with PWS and I look forward to strengthening our relationship.

Linda Thornton

Janalee

In my capacity as Vice-President of IPWSO, I thought I would introduce myself and let you know what I am doing.  This September/October is going to be very busy!  I will be flying out from Florida to join Giorgio at the ESPE Conference in Prague on 21 September where we will set up an IPWSO booth in the same way we have done for previous ESPE conferences.  “ESPE” stands for European Society for Paediatric  Endocrinology and is  designed to improving the care of children with endocrine diseases by promoting knowledge and research.  IPWSO has been involved with these conferences for many years by promoting our work through sharing information, talking with doctors, networking and informing people about our free diagnosis for PWS at BIRD.  All this is done through our booth, and, believe me, we have built up an impressive data base of professionals throughout the world!

Giorgio & Janalee with Iranian doctor
at the ESPE booth

Straight after the ESPE conference I will be delivering presentations for the PWS Association of the Czech Republic over two days.  This will be an exciting time for me and I am looking forward to meeting as many people as possible during these two days.

ESPE booth at Istanbul

I will be taking a short break with Giorgio and his family before flying to Amenia.   In Armenia  I am taking part in the First International South Caucasian Conference on Rare Diseases and Orphan Drugs, and will be giving a presentation on PWS.  This first conference is an important step in gathering together a large group of parents and professionals interested not only in PWS, but also other rare diseases.  “Orphan” drugs are used to treat rare diseases and are developed through specialised research in many countries under that country’s public policy.  (In Europe, orphan drug registration is controlled by the European Medicines Agency through the Committee for Orphan Medicinal Products (COMP).   At this conference, I know I will catch up with many of our Eastern European members and I am looking forward to that very much.

I will return home on October 10^th.

Blogging from IPWSO

We thought we would start a blog for IPWSO, just to let you know what we are doing, who is doing it, where they've been, and what IPWSO is doing for the world.  For anyone stumbling across this blog, IPWSO stands for the International Prader-Willi Syndrome Organisation and you will find more about us on our website: http://www.ipwso.org/

Contributions will come in from all of us who work for IPWSO, and if anyone would like to send us their thoughts on anything to do with PWS, please send them straight to me for publication:  linda.thornton@xtra.co.nz.  I'm the Secretary for IPWSO and this is part of my work.  We hope you will enjoy our blogs.  We have had a busy year so far for 2010 with much preparation going into our 7th International PWS Conference which was held in Taipei, Taiwan.  Our international conferences are always a great experience, particularly as we have a wonderful mix of professionals and experts, along with parents, caregivers, and the people with PWS themselves.  This makes us into one huge global family; we get to know one another very well, and by sharing our knowledge, experience, and enjoying ourselves, we form a great network of support around the world.  So, I'm looking forward to hearing from you and to sharing more of our work, ideas, and thoughts.