Come and meet Luke...



Luke with Boots



I first met Luke a year ago when I was in South Africa giving some talks and workshops.  We stayed with Luke's family in St Lucia and spent a few wonderful days with them all.  Luke and his brother captured our hearts and soon Nick became "uncle Nick".  Luke's family have been through some tough times, but they are all incredibly resiliant and courageous.  Let me tell you a little about Luke:

Luke is five-and-a-half years old and attends a pre-school in Durban in a class of sixteen.  The school has been wonderful with food security and sticking to a routine - they take time to explain changes to Luke and have made it their policy to always tell the children that if something (an outing or activity) does not happen because of rain etc, they will do something else.  This has meant that Luke is extremely happy and secure.  He does speech therapy, occupational therapy and horse-riding twice a week.

His mother, Janet, says, "He has just started to become more aware of food and tell me he is hungry more often, but I can still keep to our time frames for food.  He has an incredibly memory about everything!!  You dare not say something about what you are going to do, buy, or say, as he will make certain that you do!  He has a wonderful sense of humour, he idolizes Matthew (his older brother) and always says he wants to be just like him."

Matthew with Boots

Let me tell you a little now about Matthew... in Janet's words:

"Brian and I are parents to two wonderful boys, Matthew (13) and Luke (5).  Throughout my pregnancy with Luke we had prayed for a normal birth and normal child, no issues.  We did not ask for an "Einstein" or a "Sports Star" just a normal baby.  You may ask why the focus on this - well Matthew was born with a congenital heart defect and honestly, we had been through the mill with him.  At the time of Luke's birth, Matthew had already had 5 open-heart surgeries, we spent weeks outside of ICUs and Matthew has consequential health and learning issues.

"Dealing with two boys with medical as well as educational issues has been difficult to say the least, but we press forward.  Matthew is an amazing older brother and has immense empathy and understanding of Luke, perhaps because of his own health issues.  He is wonderful with Luke, a real friend and brother to him.

"We are constantly questioning and researching how we can give our boys what they need in the future.  Of huge concern is the lack of PWS-focused residentail care for our children in South Africa, because, let's face it, we will not be around forever and we already know how difficult times can be when we do not have the support we sometimes need.  Brian and I are looking at facilities (and if necessary we will develop one ourselves) and are trusting that we will be able to do something before Luke requires it.

"One thing we are sure of is that we would not be where we are with our boys today without our faith and trust in God to see us through.  Even despite this, at times it has been difficult."

Matthew still faces more surgery and has recently been through another battery of tests and is on oxygen.  Personally, I have taken great strength from this wonderful family and it was such a pleasure and joy to get to know them during our short stay in South Africa.  Janet has allowed me to tell you a little of their story...

...so, she joined WSPA



Thanks to http://www.northrup.org/photos/moon-bear/



As we pulled up to the supermarket carpark (and parked as far away as possible... for extra exercise), the WSPA (World Society for Protection of Animals) posters were plain to see.  There was a sorry-looking bear with a ring through his nose, and a very sad little donkey with liquid eyes just imploring you to do something.  A stronger magnet for someone with PWS you could not hope to choose.  Immediately my daughter went straight for the posters and engaged a rather patient young man in conversation:

"What's wrong with those bears?  Who did that to that donkey?  How can people be allowed to do that?  What do you want me to do to help?"

The conversation became seriously involved with how Moon Bears (named for the moon-like crescent on their chests) are captured, their claws and teeth ripped out, and used for bear-baiting.  They are also killed for their gall-bladders. Although it has been illegal since 1989, it still goes on.   WSPA rescues the bears by intercepting bear-baiting fights, and also by offering better incentives for money earning (raising crops, selling produce etc), and then puts the poor clawless, toothless animals into a special reserve where sometimes a claw or two might grow back, but the teeth don't, so they live on soft foods and fruit.  Francie absorbed all of this, at the same time telling me she was going to join up and she would make sure her budget included the $3.60 (NZD) a week necessary.  This link is a video of what happens - warning, it's very graphic, but it does show the refuge with happy bears at the end.

http://video.google.com/videoplay?docid=7013650950411952306#

Of course, my mind was racing back and forth between the interest she would get through joining WSPA and the fact that her miniscule budget barely allows her to feed her cat and buy some personal items like shampoo, not to mention tobacco (that's just another story).  The nice young man, eager to make a convert, said she could get out of it at any stage, or postpone payments if needed.  Of course, Francie was metaphorically captivated and eager to plant her signature on the contract. 

It always interests me how our kids with PWS see the world - they instinctively know who is worse of than themselves, they have a clear idea of their own values, they have a desire to help, to nurture (and to feed) those who can't help themselves.  This was such an occasion.  It will give her an interest, and a kind of ownership, an authority, if you like, over something that she can do for something for someone else.

On the way home in the car she said (absolutely true to form):  "Well, at least my $15 will go towards some fruit for the bears!" 

IPWSO at ESPE "Why wait for obesity to diagnose PWS?"

Dear IPWSO members,

I just wanted to give you an update on our IPWSO awareness booth at the ESPE conference.  Although it is the “European Society for Pediatric Endocrinology”  there are 2,500-3,000 participants from all over the world – and I mean all over the world.  Giorgio and I are both invigorated and exhausted!  We were just crazy busy today with people stopping by our booth for information on PWS.  There were times when even with the two of us, we could not talk to everyone or get them all scanned because there were too many at a time, but they all got one of the packets Giorgio put together.

IPWSO Booth at ESPE Conference, Glasgow

We have extensive packets for those who have no information, packets for those that received information from us before, but were looking for new information, and crisis packets for those dealing with weight and behavior issues.  I also brought a suitcase full (75) of our brand new growth hormone books that we created and printed at PWSA (USA).  Between Giorgio’s 9 cartons and my suitcase full, we only have 3 cartons left and have 2 ½ days to go!  We are looking at ways to stretch the information. 

Giorgio has been able to recruit physicians from three countries where we are not represented to be the IPWSO professional delegate.  We have also made contact with the key people at the two pharmaceutical companies that have the indication on GHT and PWS.  Having the new GHT booklet helped to peak their interest.  One physician from the country of Georgia even personally brought Giorgio blood samples to the conference in order to get the free diagnosis services we provide in collaboration with BIRD.  Another physician from Vietnam stopped to personally thank IPWSO for the free diagnosis services.  They are now getting children with PWS diagnosed in their country.

Giorgio and I make a good team for these conferences.  I handle the medical questions, but Giorgio is really the impressive one to watch in action.  He can greet people in almost any language and have conversations in 6-7 languages.  He also knows the delegates in all of the countries, so can discuss that with them.  He also works very hard to get all of the materials together (I send him the new articles we need to add) and knows the details on how to ship internationally – and of course, is renowned for being frugal!  He knows the conference organizers and they treat us well.  We have a great corner location for our booth.  As always, we are not in the fancy hotels with the doctors, but in a cheap one and Giorgio drove 4 hours to fly out of an airport where the flight was much cheaper. 

Iranian Delegate with Giorgio Fornasier

I am sharing this information so you can appreciate the significance of this important education service we offer, and the collaborative efforts between IPWSO, BIRD, and PWSA (USA).  

Warm regards,

Janalee Heinemann, MSW

Vice President, IPWSO

Director of Research & Medical Affairs

PWSA (USA)

Today I went swimming

I don't often go to the pools; I don't like the smell of chlorine, but all this week I have taken my daughter to the pools and watched as she aqua-jogged length after length.  She really seemed to work hard, so today I said I'd brave the water and come in with her.  She was delighted, of course.  She showed me how to put on a body-belt to help flotation, and off she set with me trailing behind. 

She cheerfully announced that we'd do 30 lengths. I quailed at the thought, but had to appear staunch.  She reached the first length and turned to ask how I was doing.  "Ok", I said, "how about you?"  "Oh," she said, "I'm just fine."  After 10 lengths, she was still in the lead.  After 20 lengths, she announced that we could quite possibly reach our goal and do 10 more, "that'd take us up to 40, then we could try 50". 

What had I done to deserve such a hard taskmaster?  She raced me to each end loudly announcing to all and sundry that I was "close to useless".  On and on we went, alternately jogging with feet on the bottom of the pool and then 'cycling', she called it, when it got deep.  I thought it was more like upright dog-paddling.   I was completely out of my depth, metaphorically and physically; there was my daughter, yes, the one with PWS, beating me hollow, with a cheeky grin on her face, laughing as she reached the wall before I did. 

Now, quite apart from burning 915 calories for herself, she also won, big time.  Two other women, also water-jogging, shared her amusement, and I smiled as she hauled herself out of the water ahead of me.  I was the one left in the slow lane this time. 

Here's another plus:  she's been in a good mood since!

A great little book by Kirsty Reid and Peter SW Davies of the CHildren's Nutrition Research Centre at the University of Queensland, called "Exercise and Phyiscal Activity for Children with PWS" is available from our IPWSO office (cost is postage only).  It talks about activities that will help lose weight, how to maintain interest in exercise and to encourage exercise with pre-schoolers, tye types of games, dancing and music-based activites that can be used effectively and there's a wonderful chart which states the calories lost for each exercise, according to the weight of the person and the time done exercising. 

Take time to check this out.  Contact me if you would like a copy:  secretary@ipwso.org

Linda

Keeping Well

Keeping fit and well, for anyone, is lifetime goal just as it is for people with PWS.  As our children start off in life, their general wellness (quite apart from PWS) is pretty good.  Out of the three of my daughters, the one with PWS was, by far and away, the healthiest of the lot and always seemed to keep good health.  As she ages (now 27), however, all sorts of things start to appear, many of these due to the fact that she is overweight (not having had the benefit of GHT) and being overweight means more stress on not just the vital organs in the body, but feet and ankles, hip joints and just general wellness.

One of IPWSO's medical consultants, Dr Susanne Blichfeldt, has put together a comprehensive document on physical health in PWS.  You can see the full article at our website.   It's full of commonsense, what to look for, what is particularly PWS, and how it affects our sons and daughters.  This is not just for the older person, but a very good guide for the health of our younger children.  It includes eyesight, dental care, the skin, tummy problems, hormone deficiency, joint problems, and a really good checklist for parents and caregivers.

While some issues are obvious, such as overweight, needing glasses, skin-picking, maybe fluid retention in the legs, there are issues that are not so obvious like osteoporosis (with up to 90% above the age of 30 suffering from this), adult onset diabetes (Type II), heart and circulation problems, breathing difficulties, sleep apnoea, sleep problems, constipation.  It's really important to have a good check-list so that both you as a parent or caregiver, know what might be affecting the person with PWS, and for the doctor or specialist to know as well.

Besides that, the more the primary caregiver knows what is possible, the better care we can offer!

 

What does a great day look like?!

Here's what a great day looks like in Sharon's household - her son Derek has had a really tough year and been in and out of hospital many times, the most recent time being only two weeks ago, but is now on new medication and is feeling great.  So great, in fact, that he scored second best in the Special Olympics golf tournament, skills division, out of a field of around 40 golfers... and won a silver medal!!

Sharon says it was not only a great day for Derek, but for her whole family!

Stories like this just bring a surge of "that's what it's all about" to one's heart, don't they?  We all love it when our kids, young and old, achieve something that once we would never have thought they could.  It's magic just to see them beat the odds and come up smiling.  Derek has had a tough year, but he's really come up smiling this time!

Working in Partnership

Dear Prader Willi Associations around the World,

My name is Rob Pleticha and I am the Online Communities Manager at EURORDIS.

We hope all is well with you and your colleagues.  An opportunity has come up, and we'd like to get your thoughts on it and to share the following information with any of your colleagues who might be interested.

EURORDIS is working in partnership with the National Organization for Rare Disorders, NORD, to establish global online patient communities.  The aim of these communities is to help affected individuals and families understand their conditions, connect with others, and access helpful tools and resources.  Ultimately, we hope these communities also will help link patients and families with researchers and clinicians who have expertise in their diseases.  A tool has been developed to provide translation to and from five different languages to help break down barriers that might otherwise exist.

We are currently in the early stages of setting up a community for PWS, and we would be delighted if your group was interested in partnering with NORD, EURORDIS, IPWSO, PWS USA, PWS Romania, PWS India, and PWS New Zealand.

The vision is for the online communities to be monitored by patient advocates, patient organization representatives, and experts from within the specific disease community.  This format will create a trusted safe space that can facilitate community building and information-sharing. 

We recently launched 11 communities, which you can visit at rarediseasecommunities.org.  We hope to launch 3 or 4 more in the next several months and, ultimately, many more.  Is this something that might be of interest to you?  And, if so, would you be available to hear more about it sometime soon?

Rob

Robert Pleticha, Online Patient Communities Manager

 EURORDIS

Plateforme Maladies Rares
96, rue Didot
75014 Paris
France Tel: +33 (1) 56.53.52.69
Fax: +33 (1) 56.53.52.15
robert.pleticha@eurordis.org