Wednesday, October 21, 2015

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...
https://www.idonate.ie/donation_widget/register-donor-anonymous.php?pid=1180&tax=no

¡Una pregunta que no me esperaba!


Por M.H.
(translated)

La semana pasada mi hijo de 11 años, que tiene PW, me hizo una pregunta. En su forma habitual, la pregunta llegó por un sinuoso e innecesariamente largo camino (para qué usar una sola frase cuando puede usar cinco?). En cualquier caso, su idea estaba clara. Quería saber si un hombre que se sometiera a una cirugía de reasignación de sexo para la transición a mujer, seguiría teniendo PW al terminar el proceso.
 
Rápidamente le informé (¿le tranquilicé? ¿le decepcioné?) que sí, que el SPW resistiría el proceso y se mantendría presente. Le pregunté por qué me estaba preguntando eso, y me dijo que sólo se lo estaba preguntando. Y la conversación siguió adelante.
 
En cualquier caso, es una pregunta interesante.
 
Mi primer instinto (cuando él ya no podía oírme, naturalmente) fue reir. ¿Ha sido uno de los típicos supuestos de pre-adolescente de que los padres de uno son tontos? ¿Tuvo un momento Eureka en medio de la noche y asumió que a mamá y papá, de alguna manera, se les había pasado esta forma tan "obvia" de quitar el SPW de su vida? ¿Estuvo reflexionando y llegó a la conclusión de que la transición a mujer sería un precio que valía la pena pagar? Naturalmente, cometió el error obvio de pensar que semejante procedimiento es una elección fácil, en vez del necesario y complejo proceso requerido para corregir los problemas que ocurren cuando a alguien se le asigna al nacer un sexo que no se corresponde con el que se siente identificado.
 
¿O debo interpretar la pregunta como conmovedora, como el agarrarse a un clavo ardiendo de un niño que está llegando al entendimiento de que no le gusta tener PW y le está dando vueltas a la cabeza con la esperanza de encontrar una manera de deshacerse de él?
 
¿O es una llegada a la conclusión de cuán fundamental de su propio ser es tener SPW, incluso más fundamental que su sexo?
 
¿O mejor verlo como una ilustración de qué poco él (y la mayoría de nosotros) entendemos de genética? En su cabeza conectó razonablemente el SPW (algo que tiene que ver con la genética) con el sexo (algo que tiene que ver con la genética).
 
Uno de los rasgos frecuentemente reportados sobre el SPW son las preguntas repetitivas o excesivas. Yo también lo tengo. A veces siento que ya sé qué me va a preguntar mi hijo incluso antes de que abra la boca. Hay días en los que me siento como una actriz en una obra de teatro escolar mala, obligada a escuchar una serie de frases una y otra vez para responder con otra repetitiva serie.
Mi hijo me preguntó esto sólo una vez. Considerando su edad y su comprensión limitada sobre genética, PW y disforia de género creo que es una pregunta bastante buena. Y me alegro de que de vez en cuando se salte el guion.

Tuesday, October 20, 2015

Educating Endocrinologists Around the World


by Janalee Heinemann ~ IPWSO Vice-President

Thanks to an unrestricted educational grant from Pfizer, IPWSO was again able to provide an extensive amount of educational materials on Prader-Willi syndrome (PWS) to physicians at the European Society for Paediatric Endocrinology(ESPE) Conference that was held in Barcelona, Spain October 2015. It was the 54th annual ESPE meeting. 

Giorgio, Janalee, Mariona
To show how much the interest in PWS has grown around the world, we had 460 flash drives with educational materials in multiple languages that we distributed, and all were gone before the end of the conference. We also distributed medical alert booklets in 17 languages. It is wonderfully encouraging to know we can make such a difference in a short period of time. As we have seen in the past, physicians from many countries were also very grateful to learn about our free diagnosis for countries that do not have the option of DNA methylation testing. 

IPWSO provides this service in collaboration with the Baschirotto Institute for Rare Disorders (BIRD). Some new countries that were especially appreciative of this option were Vietnam, Bahrain, and South Korea.

Dr. Maité Tauber, one of our PWS experts in France, gave two presentations on the syndrome, and there were 17 posters presented on PWS -- more than in any ESPE conference in the past. There was also a great interest from several pharmaceutical companies who are doing clinical trials, or are interested in doing clinical trials, on drugs for the syndrome. Most of them are working on drugs that have the potential to help the obesity and hyperphagia (uncontrollable drive to eat) so we are certainly happy to educate and work with them!
Mariona with promotional material

Some interesting facts from France that Maité presented are:
  • The mean age of diagnosis was 17 days in 2013
  • They have 54% with deletion and 43% with UPD (a higher rate of UPD than most studies have shown in the past)and 3% with translocation       
  • The prevalence at birth in France is one in 19,000

Our awareness booth was hosted by me (Janalee), Giorgio Fornasier from Italy, and Mariona Nadal from Spain. Marguerite Hughes from Ireland also assisted prior to the conference in some of the organizational details and creating the flash drive. Mariona is a PWS sibling who is on our IPWSO board. This is the first conference in which she assisted us, and she was a tremendous help! Besides putting together some of the materials that had to be created in Spain, she was able to communicate with the many endocrinologists from Spanish-speaking countries, plus she also speaks French fluently. She was also able to explain our android App for PWS  called Prader-Willi World (PWW)– because she created it!

I am always impressed by Giorgio’s fluency in multiple languages and his understanding of the politics and cultural issues in so many countries. My expertise is in the medical and research field, so the 3 of us made a good combination of skills needed to communicate.

Mariona was able to see first hand what Giorgio and I have known for years – even though we have 3 days of long hours at ESPE, not including the massive amount of work it takes before the conference to get it organized - seeing what a difference we will eventually make in the lives of so many PWS families always revitalizes our spirit and enthusiasm. 
 
Giorgio, with Moris Angulo and his wife, Janalee, and Mariona
Each physician from the 41 countries who visited our booth will go back and share this information with other physicians who will then have the education and materials they can use that will help every PWS family they eventually treat. We cast our net wide upon the waters of the world and lives will be saved thanks to IPWSO – and thanks to Pfizer for making this possible through their funding.  

And it's thanks also to those generous people who donate to IPWSO that we can provide the specialised material that we do.  If you would like to help, just click the logo below...

https://www.idonate.ie/donation_widget/register-donor-anonymous.php?pid=1180&tax=no
 

Monday, October 19, 2015

A Question I Wasn't Expecting!



By M.H.
 
Last week my 11 year old son, who has PWS, asked me a question.  In his usual fashion the question was delivered in a meandering, unnecessarily long-winded way (why use 1 sentence when 5 will do?).  Nonetheless, his point was clear.  He wanted to know if a man who underwent sex reassignment surgery to transition to a woman would still have PWS after the process was complete.
I quickly informed him (reassured him? disappointed him?) that yes, PWS would withstand the process and would remain present.  I enquired why he was asking and he told me he was just wondering.  And then the conversation moved on.

Still, it's an interesting question.

My first instinct (when he was out of earshot of course) was to laugh.  Was this a typical pre-teen assumption that one's parents must be dim?  Had he experienced an Eureka moment in the middle of the night and assumed that his Mom and Dad had somehow missed this "obvious" way of getting PWS out of his life?  Had he mulled it over and  concluded that transitioning to a woman would be a price worth paying?  Of course, he made the obvious mistake of thinking that such a procedure would be a simple choice, rather than a necessary and complicated process required to correct the problems that occur when some individuals' assigned sex at birth does not correspond to the gender with which they identify.
 
Or should I interpret the question as a poignant one, a grasping at straws by a child who has reaching an understanding that he does not like having PWS and is mentally thrashing around in the hope of finding a way of getting rid of it?

Or is it a coming to terms with just how fundamental a part of his being PWS is - even more fundamental than his sex?

Or is it best viewed as an illustration of how little he (and most of us) understand about genetics?  In his head he reasonably connected PWS (something to do with genetics) with sex (something to do with genetics).

One of the oft-reported traits of PWS is repetitive or excessive questioning.  I get that too.  Sometimes I feel that I know what my son is going to ask before he even opens his mouth.  There are days when I feel like an unwilling participant in a bad school play, compelled to listen to one set of lines time and again and to deliver another set in return. 

My son only asked me this question once.  Considering his age and limited understanding of genetics, PWS and gender dysphoria I think it was a pretty good question too.  And I'm glad that sometimes he leaves the script behind.

Thursday, October 1, 2015

The Awfulness of Meltdowns

The other day my darling (adult) daughter had a huge meltdown.  She lives in residential care so I wasn't there to witness it first-hand, but I had the full works via phone.

It shakes me to the core whenever this happens and I just never really get used to it.  Things can go along so well for such a long time, then suddenly, something jumps out of line and no power on earth can stop the mountains being moved.  She phones me in order to play me off against the staff.  But the more I stand my ground and don't give in to the desperate cry for more food, a cigarette, or whatever, the worse it gets.  Whatever started this all will fall by the wayside and I become the focus of this powerful deluge of verbal abuse.  Apparently I simply don't love her, I don't understand and never have, I'm the worst possible parent, I'm useless and *%@^* so on.

 It hurts.

I feel useless, guilty, anxious, frightened, alarmed, and often really scared.  I just don't know what is going to happen next.  Sometimes, when the situation really escalates and she becomes a danger to herself or to others, the police are the only ones whose presence can calm her down.  I guess that's the authority hierarchy thing.

I shouldn't feel all these things because I know what happens in a meltdown; I know the pre-cursors to it, I know how one should handle these things, and I know they will blow over.  But I am unable to take off my parent 'hat' and disassociate myself from what is happening to my daughter.  I know for a fact that she is feeling "guilty, anxious, frightened, alarmed, and scared".  I know she is unsure of what is going to happen next, and I know that she tries to take control of the situation, but can't.

Having PWS must be one of the greatest stressors imaginable, not just for families, but for those who were born without that tiny little piece of the 15th chromosome.  So unfair.  Because if we don't take control of this situation, if we give in to that 'just one extra potato, or whatever' then we are promoting a life of constant battle.  As parents, we need to trust those who have studied PW and know what to do in these situations.  As parents, this is quite hard to do.

This picture of parents of a child with autism can be exactly how parents of children with PWS might feel as well.


Our IPWSO Famcare committee is about to start a study of de-escalation strategies or how to handle a major meltdown.  We want input from other parents, so if you are willing to share (we don't need your name or that of your son or daughter), we would love to hear from you.  Write to me separately and I will answer.

IPWSO is lucky to have such a strong team of clinical specialists who will answer our calls for help.  We are lucky to have a strong team of committed parents willing to share their knowledge and understand what others are going through.   So I would like to gather together what we as parents can teach others about what happens before, during, and after a meltdown and what we have learned to do that might help alleviate this, or sometimes even actually avoid the whole disaster.  When looking through the web for more information, I came across this from the Autism association.  I thought it was pretty much word-for-word something we might use as well!





Linda Thornton
Communication Coordinator, IPWSO