Tuesday, March 6, 2018

I'll tell you what I want, what I really really want!

The other day I listened to my daughter as she picked up the phone, dialled her bank and started to explain what she wanted done for an automatic payment to go to into my account.  She was polite, completely engaged and knew exactly what she wanted.  I have to say that I was impressed. 

She explained that she had special needs and that her benefit covered so much but that she wanted to make sure an extra $5.00 went into her Mum's account so as she could pay back the money she borrowed. She knew exactly what to do and how to do it.

It started me thinking about all the things our kids know how to do and how so many manage, to get by in the world.  There is so much they can do and understand, but the potential for failure and the potential for being misunderstood, not to mention the potential for fallout from unthought-out consequences is high.  Which means that someone in their lives must be one step ahead the whole time. 

My daughter likes to go shopping, wants to have lay-bys, wants to buy presents for everyone,  The consequences don't matter to her because she lives in the here and now.  Warnings about  running into a lot of debt simply pass her by because there's always another payday, The idea of saving money is an anathema to her - what good is putting money aside to spend later when you can spend it today?  Her idea of saving money is to buy from op-shops (and who can argue with that)!

The concept of something unforeseen such as a vet fee for the cat, an unplanned visit to the doctor, a need to go to the dentist, or to make sure there is catfood in the cupboard at the end of the week, is as absurd to her as water-divining.  Much better to rush out and buy the boyfriend a Valentine's Day present in the hope of getting something in return!

She's quite happy that her bank balance comes in as zero each month as it's better to owe money in lay-buys, or 'next month' for the doctor, than to see money resting fretfully in her bank account.

It's difficult to argue with mainly because she will agree with everything I say... then go out and do exactly as she pleases.  And, I have to say that I am fully expecting the $5.00 per week to be uninstated any time now!

There's always another day...

Sunday, December 17, 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, November 28, 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.)