Sunday, 17 December 2017

Holiday Hiccups

Food for thought?

 Although everyone loves holidays, this time of the year (whether in southern summer or northern winter) can often be more stressful than most.  It seems that we dedicate days to eating! And with family gatherings, and more meals, and lots of laughter and fun, it's often the person with PWS who finds it most difficult; too much temptation, food left out, people not watching.  The main characteristics of PWS are brought sharply into focus - the desire to eat as much as possible and whenever possible.  We all know the pitfalls...

The most worrisome outcome of overeating, or bingeing, is that of gastropaersis which may go unnoticed if your child does not complain of pain, or is usually trim because of Growth Hormone treatment.  Please be aware of the symptoms and characteristics of this dangerous issue. 

The very sad account of a 24-year-old man with PWS who presented with "abdominal pain, nausea, and emesis 3 days after ingesting 8 pounds of raisins and 48 ounces of peanut butter during a food binge"  -  luckily after some serious surgery, he survived.  Ref

I always remember one mother who had a t-shirt made up for her little boy which said "If you feed me, my mother will slap you!"  I know - not necessarily politically correct, but she was at her wits end and it worked!

If you will be with relatives, carefully plan ahead of time and communicate the importance of food control with all involved. Make sure all attending know the “rules of engagement” and agree to cooperate.  

We  have some good holiday hints written by Janalee Heinemann and our  Guidelines which may help you with practical advice including:

  • See that someone at all times is clearly in charge of your child with PWS.  Clearly define when you are “changing guards”.  As Dr Linda Gourash states, “When everyone is in charge – no one is in charge.” 

  • If your child is old enough, rehearse the “rules” before the special  day and come to a mutual agreement on what your child will be allowed to eat.  You can barter, i.e. “Do you want a little extra turkey and dressing, or do you want a piece of pie as your special treat?”

  • It is okay to request that Grandma and other relatives tuck away tempting items during your visit and to discreetly check with you prior to offering your child a treat.  (Don’t check with the child!)

  • Make sure you know what everyone is bringing, so there are no surprises on what the choices will be. 

  • Grandpa and Grandma, or aunt and uncle may want to bring a special gift toy to compensate for the food they have to deny your child. 

  • Go over with the hostess or your family on how to contain the accessibility of food.  See to it that where your child is sitting there will not be a lot of bowls of food, rolls, or condiments nearby (Many people do not consider how many calories our children can consume with the extras – sugar, butter, sauces, gravies, etc.) 

  • After eating, when people are just visiting, see to it that if the food cannot all be put away, someone is responsible for guarding it. 

  • Your child must have the security of knowing you will be strong in your commitment to keep them protected from food – in spite of themselves.  Giving in, even once, means several battles ahead.  I know you get tired of hearing it, but consistency is the key. 

All worries aside, we hope you enjoy the break as much as possible and can look forward to 2018 with confidence!  We will be here to support you all as much as we can.  

Tuesday, 28 November 2017

This BIRD has wings!

40 years awareness for “Rare disease” – Anna and Giuseppe Baschirotto
My visit to B.I.R.D. in September 2017

by Verena Gutmann (IPWSO Board Member - Austria)


Some weeks ago I visited B.I.R.D. Institute (Baschirotto Institute of rare disease) in Longare di Costozza, a sleepy little village near Vicenza.  The agreement between B.I.R.D. and IPWSO needed to be confirmed again and signed.  

The B.I.R.D. Institute makes it possible to perform the IPWSO diagnostic molecular tests which allow confirming or excluding the Prader-Willi Syndrome in countries which cannot afford the special technical equipment to provide the diagnosis on site.
This is the only life-sustaining option for many affected families to care appropriately for a person with PWS.

It is very impressive to see how much mail the institute receives from all over the world. Even test samples on simple coffee filter paper arrive when laboratory filter paper is not available.

Last time I visited B.I.R.D. was in 2002, when Giorgio Fornasier, father of the now 40 years old Daniele with PWS and the former president of IPWSO, organized the IPWSO members meeting of 25 nations at B.I.R.D. That was a truly emotional meeting!
Giuseppe and Anna Baschirotto
Today, 15 years later, I was really impressed by the Baschirottos. Their life´s work is characterized by their never ending support and their confident empathy.  Mauro, their son, died at age 16 because of the now known Apeced autoimmune syndrome. It was then that they decided to support research and therapy for rare diseases. Today, a very dedicated team of molecular biologists, human geneticist and MD´s make it possible to diagnose rare diseases like Prader-Willi Syndrome, Apeced Syndrome, Lesch Nyhan, Krabbe Disease and Metachromatic Leucodystrophy.  Outpatient medical care and rehabilitation programs are also offered on this site. In former times the property was the summer residence of Venetian aristocrats. Later on nuns used it as an orphanage, before finally the Baschirottos became the owners.

It is of great importance that affected families can meet and share in this special environment. They can experience here that support is offered and that they are not alone in this situation. Because of the close contact with Giorgio Fornasier, the Prader-Willi Syndrome found particular attention at B.I.R.D. 

PWS rehab camps are offered here twice a year. During these camps, PWS individuals and their families benefit from medical care and also learn more about PWS management.
Beside the DNA diagnosis, PWS genetic research is conducted here. Currently test samples of four PWS patients are kept here under special conditions (temperatures of -80° Celsius) because the financial support of the Canadian Foundation of Prader-Willi Research for the project  "Insulin driven-translational capacity is impaired in fibroplasts of  Prader-Willi Syndrom" ended. A new sponsor has to be found...
Tests are kept at -80C
It was such an impressive experience for me to meet a couple like Anna and Giuseppe. Their charisma, their commitment and their humor are priceless, and their encouragement to keep supporting PWS families worldwide is much appreciated.

(IPWSO expresses its huge gratitude to the Baschirotto's and their team of staff who make many PWS diagnoses for families around the world.  All PWS diagnoses are subsidised by IPWSO and free where this is otherwise unavailable.)