¡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.

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 54^th 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...

 

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.

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

"I don't want to go to school!"

Although going to school for the first time is usually a really happy occasion, as the years pass by, there can be that familiar cry, "I don't want to go to school!"  More often than not, there is an element of bullying going on that makes a child fearful of school.  Katherine Stanley, who has PWS, wrote a book about bullying in schools.  We wrote a blog about that which you can see here 

There are so many issues that our kids with PWS have to deal with at school so it is really important that teachers are able to recognise not just the learning ability of the child (and be able to meet their individual special needs as required), but also the social needs and how to help the child fit in comfortably.

And, having said that, it's not just the classroom teacher who needs to know, but everyone - including the relieving teacher so that they are not caught in the trap that one relief teacher found herself in.  She was just relieving for one day and she asked for a volunteer to collect the class lunches - you are all already ahead of me and yes, you are correct -  the child with PWS shot up their hand and willingly volunteered.  The school lunches only made it as far as the nearest toilet block and all were consumed.  

It is so easy to exclude the child with PWS from outings, camps, and other out-of-school activities for this very reason - that they 'can't be trusted'.  Or, 'there isn't enough staff to cover a one-on-one situation'.  It is a sensitive situation.  Do you agree with the teacher and keep your child home for the day, or do you postpone what you were going to do so that you can accompany your child?  Or do you insist that the school gives as much attention and care to your child as they would to any other child who needed special help?  It's a tough call and I have kept my child home from school on quite a few occasions in the past to avoid unnecessary confrontational situations.  I have to say that we both enjoyed our days out together and probably had more fun.

Quoting from what is written on our website, "Students with PWS are very receptive to learning and are keen to please.  In general they have good reading skills, but poor numerical skills and handwriting can be slow to develop.  They show ability to learn computer skills and often have excellent fine motor skills, for instance, many are particularly clever with jig-saw puzzles, threading beads, and many show an aptitude for fine handiwork including needlework and knitting.  The IQ level generally falls in the just-below-normal category, but often shows “islands of competence”, in other words, they might be equal with their peers in some areas, but need support to reach potential in others.

"Maths teaching needs to be conceptual, practical, and often repeated several times before there is understanding.  Teaching the use of a calculator immediately helps the level of understanding.  Once understanding has occurred, the concepts generally remain.  Like all students, they thrive on praise.

"Throughout integrated primary and secondary education, it is important for the student to have teacher aide time if this is available at their school.  Although not always available for many students with special needs, it should be applied for on all levels.  The need for teacher aides will not decrease as the student progresses.

"Teachers should be as familiar as possible with the characteristics of this syndrome, even including the genetic subtypes, as this will impact on the learning ability of the student and the teaching strategies employed."

This may require some dedicated education on your part to make sure the school really does understand PWS, and may even need you to talk to the classroom to explain why your son or daughter needs the students' understanding and support.  I remember doing this (with my child absent) by telling them a story about a child with diabetes and how although this child looked just the same as anyone else, they had an illness that could kill them if they weren't looked after properly.  Now that growth hormone treatment is much more readily available, children with PWS who benefit from GHT will definitely look just like any other child and it's this that makes it even more important for everyone to understand what it means to have PWS. 

But, they can learn and they can succeed and they can often astound you in their success.  With the right support at school, at home, and from their peer group, school can be a happy and convivial place of learning.

Of course, there may well be many things that go unsolved at school.  Like who really took Sally's school lunch money, and who was it who cut the computer cords, or took someone's prized possession, or carved f*** you into the headmaster's table...

Some things just remain urban myths, don't they?