I was a Conference Virgin

I was 38 years old and still a virgin - a conference virgin, that is.  My third child, diagnosed with PWS, was already 4 years old, but the shock of this diagnosis had not worn off, in fact she was not diagnosed until she was 3, so all our lives were still in a state of flux.  Life was definitely not fair.

In the 80's there was very little information on PWS available in our country then, and certainly no Association or support.  My information came via rather ancient printed copies of the USA "Gathered View" which the only other person I knew who had an older child with PWS had kept stored away in her garage.  Somehow I heard the news that there was to be a conference in Perth, Australia and the speaker was to be a Professor Vanja Holm (known then as the Godmother of PWS in the States).  I was determined to go to a corner of the world I'd never been to before, to listen to people speak on a topic I'd never heard of before, and... fly there.  I hated flying and had loathed it ever since my first flight on an elderly DC3 which shook and bounced its way under and through the clouds and fairly close to the mountain tops.  My mother said she'd come with me. 

Dr. Vanja Holm (front) the first physician to be involved with Prader-Willi syndrome in the United States. Front: Dr. Vanja Holm. In back left to right: Dr. Hans Zellweger, Dr. Gene Deterling and his wife Fausta (founded of the Prader-Willi Syndrome Association-USA), Dr. Andrea Prader and Dr. Sam Beltram, the first Prader-Willi Syndrome Association (USA) president. Taken at the national conference in 1984. Source: Prader-Willi Syndrome Association (USA)

Nervously I boarded the plane.  Confidently, my mother did the same.  She appeared to enjoy the inflight entertainment and certainly enjoyed her meal.  I couldn't eat.  I couldn't concentrate.  I felt every air-pocket for 9 hours.  I was nervous about the conference, I was nervous at leaving the children at home and I was surely nervous about the flight.  We landed, collected our bags and found our way to the hotel.  It overlooked a pedestrian square which was full of people going about their business, shopping, going to work, enjoying the Perth life-style.  Not so confident was their overlooker.

My mother didn't come with me to the conference, so I was completely on my own.  It was like diving off the high dive board into water so deep I couldn't touch the bottom.  I could barely make it to the surface before I sank again into a very watery world full of questions and answers that seemed to float by, but I could never seize.  I went from room to room; I listened to lecture after lecture - delivered by confident specialists who seemed to know what they were talking about.  It seemed so concrete as they imparted fact after genetic fact, rule after rule, warning after warning.  I thought of my small daughter back home, with her smiling face and lovely warm hugs.  I felt her tiny arms around me, saw her own determination to survive in this unforgiving world, and it was only by remembering her boundless love for life that I managed to get through those three days.

After the conference, my mother took me on a bus tour to see the wild flowers of Western Australia.  It wasn't quite the right time of year for it, but I do remember seeing a field of the most vivid purple and exclaimed in delight at what, to me, was beauty and perfection.  The bus-driver overheard my comments and turned on his microphone so that the whole bus could hear..." Yeah, well, that field over there?  That's full of 'Patterson's Curse'.  It's a weed."  He paused for effect, so I felt suitably cowed.  "However," he went on, "it's also known as 'Salvation Jane' as it can be a food crop in the drought."

Under my breath, I said to my Mum, "well, it's probably the prettiest thing I've seen yet".  She firmly agreed.  And I've thought about it often.  How weeds survive.  They're strong.  They don't give up. They are always there, no matter how much you try to weed them out!

Anyway, since that first nervous conference, I've been to many, many more.  I went to the first IPWSO conference in The Netherlands, I've been to places I would never, ever have been to - Taiwan, Romania, South Africa.  I've learned to separate the factual lectures from the child or adult with PWS, because everyone is different.  I've learned to enjoy the company of other parents, and how easy it is to talk freely with them.  I've learned that the knowledge passed on by specialists is something we parents are privileged to share at this level, and I've made good friends with many of our professionals.

First-time conferences are never easy.  I've learned to recognise the lost look on parents' faces, and to sit and talk and share my own experiences.  I've learned to laugh out loud at the things our kids do to try to win the day and have been bent over in hysterics on many an occasion.  I've raised a glass and sung many a good song.  I've also wept and cursed the unfairness of life, but I've learned such a lot about life as well.

If our 9th international PWS conference is going to be your first; be encouraged by what you are going to learn, be uplifted by the friends you are going to make, and, above all, learn to be strong.  To be a 'salvation Jane'.

A tale of two haircuts

By M.H.

When my son, who has PWS, was 6 he cut his own hair.  It was a fairly innocent event.  He had been using his scissors for some artwork and then, unbeknownst to me, decided to play barbers by lining up his stuffed toys and cutting their fur.   After the camel he ran out of toys and, unwilling to abandon the game, turned the scissors on himself.  The result brought to mind a dog suffering from mange.  I was horrified.  

But the barber, to whom I promptly escorted my son, laughed at my concern and reassured me that this was normal behaviour.  According to him, my son was only one in a long line of children who required a #1 blade haircut to disguise their own attempts at barbery.  This view was echoed by several friends who all seemed to have personal experiences of children doing precisely the same thing, usually right before occasions at which they needed to be photographed.

So I told myself to chill out and moved on.

This Christmas day, when my son was 11, he cut his hair again.   This time was different.  He had struggled for weeks in the lead up to Christmas with anxiety about presents, food, visitors, holidays and who knows what else.  On the day itself he had managed to cope (more or less) until dinner was over and then retreated to his room for some quiet time.  I had assumed that he would distract himself with a jigsaw or word puzzle until bedtime and that the worst of his stress was over.  But instead he found a scissors and attacked his hair.

I found him midway through the assault and removed the scissors, swept up the hair, suggested an alternative activity for him and hurried to warn the visitors not to comment on his new look. 

I knew that this time my friends would not chide me for being uptight and tell me that "every child does that".  So, I didn't tell them.  This time there were no jokes from the barber either.  Whereas my son's first self-administered haircut was a childish game, this one looked like self-harm.  It made me fearful of what he might do in future and whether the distress that had led to this incident might someday lead to him seriously hurting himself or others.

None of these are very pleasant thoughts.  But, of course, there is always something positive to be found if one looks hard enough.

When my son was 6 I doubt I had even heard of the importance of low expressed emotion, but this time I succeeded quite well in maintaining a cool facade.  When my son was 6 I not alone felt horrified at his haircut, but I also let him see this.  This time I felt sad but not horrified.   This time I didn't waste my time or his by asking why he had done it or chastising him for it.  Instead, when he was calm, he and I agreed that from now one we would keep the scissors in the kitchen, which is locked, and that he would only use a scissors when there was an adult present.  

Strangely, this time I felt better able to cope than I had felt when he was 6 and behaving "normally". 

And, despite the ongoing negative impact of PWS and anxiety, overall I think that everyone in our house had a pretty good Christmas.

IPWSO CONFERENCE GRANTS

IPWSO 2016 Conference Scholarship Scheme

In order to share knowledge about Prader-Willi Syndrome (PWS) around the world IPWSO is delighted to offer a small number of scholarships to people who wish to attend the 2016 International Prader-Willi Syndrome Organisation (IPWSO) conference to be hosted by the Foundation for Prader-Willi Research Canada in Toronto from July 20th - 24th.

The grant will cover economy airfare to Toronto and registration fees.  Applicants should be able to cover their own accommodation costs.

The expectation of the scheme is that successful applicants will use the knowledge they gain at the conference to effect improvements for people with PWS in their countries.

All applicants must be willing, if they are successful, to be publicly identified by IPWSO as having received a scholarship (e.g. on the IPWSO website and in its annual report).

All applicants must also be willing to prepare a brief report (which IPWSO may make public) on their experience at the conference within 6 months of the end of the conference.

Only one scholarship will be awarded per country.

Priority will be given to applicants who have a track record of supporting people with PWS in their countries and demonstrate a willingness to continue to support others. Priority will also be given to candidates who come from countries in which large PWS conferences do not currently take place.

The closing date for the receipt of applications is 31 January 2016.  All applications will be considered and voted on by the IPWSO Board whose decision will be final.  No correspondence will be entered into.

Successful applicants will be informed by 19 February 2016.

To apply please provide the information requested on the form on our website.

All applications must be in English.

Advance notice: IPWSO Board

In January 2016, IPWSO will be taking nominations for positions on our Board of Directors.  Board terms are 3 years with an option to continue for another 3 years.  The majority of board members are parents of a child or adult with PWS and all board members contribute their skills and time voluntarily; we are a fully working board!

You can see our current board members here, along with our Clinical and Scientific Advisory Board (CSAB) and Professional Providers Caregivers Board (PPCB) and our Famcare committee and you will probably recognise many of them.  The process of nomination is usually done via the country's delegate (either professional or parent) and through that country's Association.  Where there is no formal association or organisation, the delegate can still nominate a person of good standing.

All nominations go to our Nominating Committee who review candiates and talk to them individually before recommending them to the IPWSO Board.  The candidates' slate of nominees is presented to the General Assembly and voted on.  Successful candidates are welcomed aboard!

You can see more information on our website and if you would like to enquire further, just complete the e-form there. 

Educando Endocrinos por el Mundo

Giorgio, Janalee, Mariona

por Janalee Heinemann, Vicepresidenta de la IPWSO

Gracias a una beca educativa sin restricciones de Pfizer, la IPWSO ha podido un año más proporcionar una buena cantidad de material educativo sobre el Síndrome de Prader-Willi (SPW) a los médicos de la Conferencia de la Sociedad Europea de Endocrinología Pediátrica (ESPE, por sus siglas en inglés), que tuvo lugar en Barcelona, España, en octubre de 2015. Fue la 54ª reunión anual de la ESPE.

Para mostrar cómo ha crecido el interés en PW por todo el mundo, teníamos 460 pendrives con material educativo en varios idiomas para repartir, y nos quedamos sin ellos antes de terminar la conferencia. También distribuimos libritos de la alerta médica en 17 idiomas. Es maravillosamente alentador saber que podemos tener semejante impacto en un periodo tan corto de tiempo. Como ya comprobamos en ocasiones pasadas, los médicos de muchos países también estaban muy agradecidos de descubrir nuestro servicio de diagnóstico gratuito para países que no tienen la opción de hacer tests de metilación de ADN.

 

La IPWSO proporciona este servicio en colaboración con el Instituto Baschirotto para Enfermedades Raras (BIRD). Algunos nuevos países especialmente agradecidos con esta opción fueron Vietnam, Bahréin y Corea del Sur.

 

La Dra. Maite Tauber, una de nuestras expertas PW en Francia, dio dos presentaciones sobre el síndrome, y había 17 posters presentados sobre SPW, más que en cualquier anterior conferencia de la ESPE. Hubo también un gran interés por parte de varias compañías farmacéuticas que están haciendo ensayos clínicos, o que están interesadas en hacer ensayos clínicos, sobre medicamentos para el síndrome. La mayoría de ellas están trabajando en medicamentos que potencialmente podrían ayudar en la obesidad y la hiperfagia (necesidad incontrolable de comer) por lo que estamos ciertamente contentos de poderles formar y trabajar con ellos!

 

Mariona con el material promocional

Algunos datos interesantes de Francia que Maite presentó fueron:

- La edad media de diagnóstico fue de 17 días en 2013

- Tienen un 54% con deleción y un 43% con disomía (UPD) (un ratio de UPD más alto del que la mayoría de estudios mostraban en el pasado) y un 3% con traslocación

- La prevalencia en el nacimiento en Francia es de uno cada 19.000

Nuestro stand de sensibilización estaba atendido por mí misma (Janalee, de Estados Unidos), Giorgio Fornasier, de Italia, y Mariona Nadal, de España. Marguerite Hughes, de Irlanda, también estuvo colaborando antes de la conferencia en detalles organizativos y preparando los pendrives. Mariona es una hermana de PW y está en el board de la IPWSO. Es la primera conferencia en la que nos ayuda, y fue una ayuda tremenda! Además de organizar parte del material que tenía que ser preparado en España, fue capaz de comunicarse con muchos de los endocrinos de los países de habla hispana, además, también habla francés fluidamente. También fue capaz de explicar nuestra app android para SPW llamada Prader-Willi World (PWW), porque ella la creó!

Siempre me impresiona la fluidez de Giorgio en varios idiomas, y su entendimiento de los asuntos políticos y culturales en tantos países. Mi pericia está en el campo médico y de la investigación, así que los tres hicimos una buena combinación de las habilidades necesarias para comunicar nuestro mensaje.

Mariona fue capaz de comprobar en primera persona lo que Giorgio y yo ya sabíamos de hace años, a pesar de tener 2 días de  largas horas en la ESPE, sin contar la inmensa cantidad de trabajo previo necesario para organizarlo todo: ver el impacto que podemos tener en la vida de tantas familias PW siempre revitaliza nuestro espíritu y entusiasmo.

Giorgio, con Moris Angulo y su esposa, Janalee, y Mariona

Cada médico de los 41 países que  nos visitaron en nuestro stand regresará a casa y compartirá esta información con sus colegas que tendrán entonces formación y material que podrán usar para ayudar a cada una de las familias PW que puedan algún día tratar.

Echamos nuestra amplia red sobre las aguas del mundo y se salvarán vidas gracias a la IPWSO, y gracias a Pfizer por hacer esto posible a través de su financiación.

Y también gracias a esas personas generosas que donan a la IPWSO para que podamos proporcionar el material especializado que preparamos. Si tú quieres ayudar, simplemente clica el logo que hay a continuación...