... So this is Christmas...

A very Merry Christmas and a Happy New Year

Let's hope its a good one
Without any fear...

John Lennon wrote So this is Christmas as a protest song against the world's wars and disruption.  I find the lyrics fit my own life like a glove...

So this is Christmas
And what have you done?
Another year over
And a new one just begun

With age, the question, "what have you done?" becomes more of a blur as the years tend to quietly slip away because the question is more like, "what have you survived?" and of course, I am referring to the wide world of PWS.

When the phone rings late at night, my survival mode kicks in immediately.  It's more like a default mode which over the years has become like a suit of armour so that I am clad from head to foot with no chinks - we can not afford chinks because if there are any, the system fails.  Once girt, I can answer the phone calmly.  Is it my daughter in a total rage about something, or is it (more likely) one of the staff phoning to let me know that there has been a meltdown and it has been necessary to involve the police.

Now, I don't want to scare you because 90% of the world's PW population won't be the same as my daughter and the 10% that perhaps experiences the same sort of behaviour will totally understand. 

And so this is Christmas

I hope you have fun
The near and the dear ones
The old and the young

Things do settle down and the experienced police are kindly, yet firm.  They are, after all, the pinnacle of heirarchy and there to be listened to because not only are they "in charge" of her, but also have authority over the staff - and that counts, in her book.  Usually the meltdown is over something very, very simple.  Like wanting full-fat milk and not the usual variety of trim, or skim milk.  "Wha-a-t?" I hear you say - well, that's the trigger behind something that has built up and built up.  Usually something to do with the "near and the dear ones, the old and the young"

Christmas is, as we know, all about family.  In a way, it is fortunate that the old ones have shuffled off their mortal coils because I am quite sure they simply would not understand that in spite of her 31 years, her behaviour can rapidly slip to that of a 3 yr old who is denied something they decide they should have.  Mostly we can all manage a meltdown within the four walls, although, should there be any guests at the feast, their looks of utter disbelief do not go unnoticed.  Quickly their glasses are refilled and questioning looks and offers of help are politely refused.

A very merry Christmas
And a happy New Year
Let's hope it's a good one
Without any fear

I always hope that the very young ones do not grow up fearing this rather different member of their wider family.  I know, one way or another, there will come that moment of recognition that she is really and truly different, and I hope that with that recognition comes perhaps some kind of understanding.  A lot to expect from a child, but maybe in later years they will understand.

I had a cousin with Down's Syndrome who lived most of her days with her parents, my great aunt and uncle who were very much part of the wider family.  I was always happy to visit her because she would show me her extensive collection of pictures of the Royal family - the little prince and princess (Charles and Anne) and their happily smiling parents.  I would always share my chewing gum with her, and, although I could not understand what she said, she was always smiling as far as I was concerned.  Now that I am older, I often wonder how her parents managed.  Perhaps they just lived quietly and peacefully in their home until they died.  At that stage, my cousin (whom I never really saw when I was an adult) went to live in a residential home.  I don't know what that would have been like for her.

And so this is Christmas
For weak and for strong
For rich and the poor ones
The world is so wrong

I watch my small grandchildren try to come to grips with the world around them.  There's not much they can control, so there's quite a lot of struggle between what can be done and what can not be done.  They will grow up and understand how to manage their world, successfully integrating  it with the worlds of others around them.  My daughter won't.  She has come pretty much as far as she can in this world.  She is not bothered about world events as they do not concern her directly.  She was not as upset as I thought she would be by the death of one of her heroes, Jonah Lomu (a great Kiwi rugby legend), but reminded us all that she had received a letter of thanks from his wife after a very small contribution she (my daughter) had made towards his recovery from kidney failure.  She had played her part in his life.  At the end of the day, all I want for her is for her to be happy, tranquil and enjoy the life she leads.  After all, it's a pretty good one.

And so Happy Christmas
For black and for white
For yellow and red ones
Let's stop all the fight

A very Merry Christmas
And a happy New Year
Let's hope it's a good one
Without any fear

What's happening Downunder in Australia?

PWS News from Australia - December 2016

contributed by Georgina Loughnan

 (This is a success story on a large scale - being able to coordinate such a huge country and organise a fundamental change for those with PWS is nothing short of fantastic, and all done by those with a passion to make change a reality!  Well done our Aussie friends!)

 Australia has a population of just over 24 million people spread out over an area of 7.7 million square kilometres (4.8 million sq miles). Based on the conservative PWS statistics of 1:20,000 live births there could be 1208 people with PWS in Australia. We are greater in area than people and are geographically divided into 8 regions (states and territories). Australia has had a national PWS association and 3 state associations, but recently met to work towards the amalgamation of all state bodies into the one national association. Together we hope to speak with one stronger united voice, while maintaining regional branches to manage networking and local events! 

We have only 4 paediatric and 3 adult PWS publicly funded medical clinics throughout Australia, to provide a service for our people with PWS. Over the past 25 years individuals with a passion to improve the care of people with PWS, have come to the fore and developed training programmes for families, educators, employers and caregivers of people with PWS. 

About 6 years ago Anne Sakaris, a mother of an adult son with PWS, developed a personalised training programme for small groups of support staff, in the state of Tasmania (population of 520,000) where there is no paediatric or adult clinic. She has also encouraged a local Specialist Physician specialising in Internal Medicine,  Robyn Wallace, in establishing a Specialist Healthcare for Adults with Intellectual Disability, to provide a holistic service for adults with PWS. Anne’s work has greatly improved the awareness and care of people with PWS in Tasmania.

Victoria, another state of Australia (population 5.9 million), has a highly active PWS community. For the past 5 years Kate De Josselin, a mother of an adult son with PWS, who has a background in education, training and policy writing, has been the Training Coordinator for PWS Victoria. She has developed 7 training workshop modules, edited the Australian (PWS) Medical Alert Booklet (taken from the PWSA USA original booklet) and (PWS) Wallet Alert Card. Her training extends to schools, residential and day programme caregivers, government agencies, medical and allied health staff and advocacy groups, in the form of onsite or video conferencing, throughout Victoria. 

In September 2013 The Prader-Willi Syndrome Better Living Foundation (PWSBLF), a not-for-profit organization, was established. Their vision is to enable young people and adults living with Prader-Willi syndrome to lead quality and rich lives through supported accommodation, maximised independence and meaningful community engagement. With a commitment to best practice, research, innovation, local and global expert collaborations, the PWSBLF is best positioned to address the existing inadequacies related to housing for adults with PWS. The PWSBLF and the Prader-Willi Syndrome Association of Victoria Inc are partnering to provide support and solutions to PWS families in accessing housing and support. PWSBLF and PWS Australia (PWSA) recently commissioned Melbourne University to survey the Australian PWS population, analyzing their current needs to determine how these needs will be best serviced by the new Australian National Disability Insurance Scheme (NDIS). 

In January 2016 PWSA secured a Capacity Building Grant from NDIS to develop the website (pws.org.au) and resource materials for all people involved in the lives of those with PWS. 

PWSA has recently teamed up with Fragile X, 15Q Duplication Syndrome and Angelman Syndrome in research conducted by Murdoch Children’s Research Institute (Melbourne, Victoria) to develop a newborn bloodspot test for diagnostic purposes. Hopefully, this will lead to earlier and cheaper diagnosis plus improved targeted interventions.

A Memorandum of Understanding has been finalised between PWSA and the Foundation for Prader-Willi Research (FPWR) in the USA to enable Australian families to join the FPWR World PWS Registry. 

Kathlene Jones, the mother of a young child with PWS living in Victoria, has worked tirelessly over the past 18 months to establish Australia’s own research foundation – Prader-Willi Research Foundation of Australia (PWRFA). She has brought together national and international PWS experts to source best-fit practices for Australian research. Negotiation has commenced with PWSA to establish a Memorandum of Understanding outlining responsibilities and collaborative opportunities.                                                                                   

 A Health Care forum, coordinated by Kathlene, was held on November 28^th in Sydney, New South Wales (NSW) to initiate a review of current Australian PWS services with the view of addressing the needs of all people with PWS and reducing the existing gaps in PWS care and services throughout Australia.

NSW (population 7,638,200) PWS care is currently provided by 2 paediatric and one adolescent/adult PWS clinic. PWS training is provided for families, schools, employers, service providers and professionals throughout NSW, by the coordinator of the Royal Prince Alfred Hospital PWS Clinic, Georgina Loughnan.

PWSA has recently been supported by Interaction, a well-established PWS service provider in NSW, in bringing Dr Janice Forster to Australia for a highly successful lecture tour. This was in conjunction with her Down Under tour of New Zealand and Australia.  Interaction is now working on a caregiver training programme to be conducted by Norbert Hoedebeck-Stuntebeck and Hubert Soyer from PPCB in 2017.

The PWS community in Australia is going through a period of increased awareness and boosted morale due to much change occurring within the disability support sector. The enthusiasm and involvement of parents (of both children and adults with PWS), caregivers and professionals is growing. This has been fuelled by good leadership of the PWSA (namely, James O’Brien), active members of PWSA and state associations and the encouragement that resulted from the IPWSO Conference held in Toronto this year. 

PWS in Chinese, English & Spanish

For the first time ever, this blog comes to you in Chinese, English and Spanish, from Mariona Nadal, our IPWSO Board member!

 

你好中国！

大家好！

我姓纳达尔，叫玛丽奥娜。我是西班牙人，我学习中文。

我有两个弟弟。最小的弟弟有普瑞德威利症候群(PWS)。

我弟弟出生的时候体重一斤半，他出生得非常早。他到4岁我们才知道它有PWS。那个时候，他体重五十六斤！太胖了！现在他是十八岁，他体重一百斤左右。他的体重很好！他的行为也比较好了！

我想跟有PWS的家人的人介绍有关PWS的事:

婴儿的时候，喝母乳很慢，非常慢。喝母乳比瓶子困难很多。宝宝的成长得非常慢，但是别紧张。

幼儿的时候，他们开始吃很多饭。他们什么时候找东西吃。但是，他们不饿也从来没有吃饱。他们开始变得很胖。

这个时候，我们得开始教他们和他们的家人人：他们要一边多运动一边小吃饭。

所以：

• 先游很多泳然后看一点电视。
• 先跳很多舞然后玩一点电玩。
• 先散很多步然后画一点画儿。
• 先走很多路然后听一点音乐。

他们运动得非常慢。别紧张。

吃饭的时候：

• 喝很多水，别喝饮料。
• 吃很多菜，别吃油的饭。
• 吃一点瘦肉，别吃甜的东西。

PWS有非常意思。请你们的医生学习PWS。也许他会想很多PWS。

找别人。你们都可以帮助他们，他们也都可以帮助你们！

加油！加油！

玛丽奥娜

————

Hello China

Hello all!

My name is Mariona Nadal. I’m from Spain. I’m learning Chinese.

I’ve two younger brothers. The smaller one has PWS. When my brother was born he weighed 750g, he was born too soon. We didn’t know he had PWS until he was 4. By then, he weighed 28 kg! Too fat! Now he’s 18, weights 50 kg. His weight is very good! And his behavior is quite good too.

I’d like to talk to all PWS families about PWS:

When they are babies, they eat slowly, really slowly. Breast feeding is harder than bottle feeding. The baby grows very slowly. Take it easy.

When toddlers, they start eating a lot. The look for food everywhere. But they aren’t hungry, but they never get full. The start getting fat very quickly. At that time, we must start teaching them and the whole family: they need to make a lot of exercise and not too much food.

Then:

• First swim a lot, then see TV a bit.
• First dance a lot, then play a bit with video games.
• First take a long walk, then draw a bit.
• First walk a lot, then listen music a bit.

They exercise really slowly. Take it easy!

At eating time:

• Drink a lot of water, don’t drink soft drinks.
• Eat a lot of vegetables, don’t eat fatty food.
• Eat some lean meat, don’t eat sweaty things.

PWS is very interesting. Ask your doctor to learn more about it. Maybe he would like a lot!

Find more people. They can help you! You can help them!

Come on! Come on!

Mariona

————

Hola a todos!

Me llamo Mariona Nadal. Soy española. Estoy estudiando chino.

Tengo dos hermanos pequeños. El más pequeño de mis hermanos tiene Síndrome de Prader-Willi (SPW).

Cuando mi hermano nació pesó 750 g, él nació demasiado pronto. No supimos que tenía SPW hasta los 4 años. Entonces, él pesaba 28 kg! Demasiado gordo! Ahora tiene 18 años, pesa unos 50 kg. Su peso es muy bueno! Y su comportamiento también es relativamente bueno.

Quería hablar a todas las familias SPW sobre el SPW:

Cuando son bebés, comen muy lentamente, son terriblemente lentos. El bebé no está gordo. Es más difícil la lactancia desde el pecho que el biberón.

Cuando son niños pequeños, empiezan a comer mucho. Buscan comida por todos lados. Pero no tienen hambre, tampoco se llenan nunca. Empiezan a engordar muchísimo.

En ese momento, debemos empezar a enseñarles a ellos y a toda la familia: necesitan por un lado mucho ejercicio, y por otro, poca comida.

Por tanto:

• Primero nadar mucho, luego ver un poco la tele.
• Primero bailar mucho, luego jugar un poco a la consola.
• Primero pasear mucho, luego dibujar un poco.
• Primero andar mucho, luego escuchar un poco de música.

Y a la hora de comer:

• Beber mucha agua y no beber refrescos.
• Comer mucha verdura y no comer cosas grasas.
• Comer algo de carne magra y no comer cosas dulces.

El SPW es muy interesante. Pedidle a vuestro médico que estudie sobre el SPW. Quizá le guste mucho.

Buscad a otras personas. Ellos os pueden ayudar a vosotros! Podéis ayudarles a ellos!

Mariona

The Chilean Story

The story of how we became the Prader Willi Syndrome National Association in Chile

Chile is the longest country in the world with 4.329 kms from north to south (without considering Antartica), and at the same time one of the narrowest, with an average of 180 kms wide. Its population (2016) is 18.214.009 with 212.368 babies born this year.  If we consider that the PWS prevalence is 1 every 15.000, we could presume there should be about 1.214.000 people with PWS in our country.

Even though at the moment we are far behind in our capacity to identify the families with individuals with PWS, we have been constantly working to improve this condition since we started to be a formal association. This is our story from the very beginning.

In 1991 there appeared the first article about a girl with PWS in a local  newspaper. This was the first move to find other families with a child with PWS, and soon after, many other families joined us. Some years later a mother living in the north was interviewed in a TV program, so more families wanted to learn about the syndrome and get in contact, thus giving birth to the first parents organization.

In 1999 a group of ten families  created the “Asociación Nacional del Síndrome de Prader Willi” base in Santiago, and soon we became members of IPWSO.

We started this association with the aim of identifying as many families having a child with PWS as possible,  so to improve their quality of life, provide support to the families, and also to inform and increase awareness about the syndrome. At that time, efforts were mainly made in Santiago.

Dr. Fanny Cortés was very significant in the achievement of becoming a formal association

and she actively supported the families and the recently initiated organization, and she has continued up to now being of invaluable help.

Within the next four years we had 60 families registered, and in 2002 we organized together with IPWSO the first Prader Willi Syndrome Latin American Conference in Chile;  a tremendous opportunity to have specialized professionals giving talks and then to communicate information along the country. The presence of Giorgio Fornasier was very inspiring and meaningful to strengthen our will to continue working hard. How to forget his marvellous song to close the assembly?

In the following years we persisted in supporting families, giving advice on different matters for a better management. We contacted health authorities to try to include PWS as a significant disability,  and to have medical reimbursement of growth hormone treatments, unfortunately for the moment, without success.

At the same time we started developing some technological resources. We initiated a database and created the website.  The social networks have helped families to be in contact with the association, thus addressing their questions,  and requesting information.

As National Association, we have been very consistent in complying with general assemblies twice a year, publishing formal announcements in a local  newspaper in due time and keeping up-to-date accounting  and legal documents. This enables us to receive donations as a charitable foundation, a condition which is most important to keep active, as it has been a key procedure to obtain funds to help our families by means of translating and printing materials, organizing workshops and conferences. It is worthwhile mentioning two seminars on behavioural management with live streaming and the translation of a DVD for school guidelines.

This year we have faced a new challenge, that is to form a “country network” by dividing

our territory in three zones: The North Zone with base in Antofagasta, the Central Zone in Santiago and the South Zone with base in Temuco. So far and in addition to Santiago, we have only initiated the South Zone with Carlos Molinet, our former President,  as Coordinator.  In October, we had a two-day meeting with ten families from different cities in the South and  they were asked to fill in a survey. We also reviewed with them information regarding main aspects of PWS and management of behaviour and food security. We answered questions and shared experiences. We nominated parent delegates for each city and provided them with a folder with printed materials and a pen-drive full of helpful information when visiting professionals caring for their own children, as well as hospitals, medical staff, regular schools and teachers, special education schools, and health centers for treatments. They were also requested to report new families to the Coordinator. It was so cheerful to see so many grateful and happy faces at the end of the meeting, as they feel they are not alone any more on this journey and that now they stand more confident as part of a group of people where there is learning, support and love.

We will soon reproduce this scheme with the North Zone, and as soon as we gather families from different cities we will have the formal meeting to nominate parent delegates.

Hopefully by the end of next year we will have a “country network” fully active and, therefore, we expect to increase the number of families registered in our National Association database and will be able to help and support them  We also look forward to having most professionals all along our country, registered and well aware of the importance of an early diagnosis and treatment of individuals with PWS .

Santiago de Chile, November 17, 2016

Amalia Balart