Mum, I've baked you a cake!

I recently had an operation that has required some time recuperating.  My daughter's response was to bake me a cake.  She lives some hours away from us in a house which is fully staffed 1:1. She's the only one in "her" house and she absolutely loves her new life.   Many people think she is very lucky, but luck had nothing at all to do with it.  Sadly she was not able to curb her behaviours to allow harmonious living with others and she had to go through some very tough times because of it.


So...the cake was duly delivered and later that night as I lay in bed thinking, it occurred to me how much she has grown and developed over the past couple of years.  She's now 28 and her move into this new home has been a revelation - to her, and to us.  For the first time in quite a while, she is happy.  She is losing weight, has a couple of small part-time jobs (supported) and the new care-provider agency seems to 'get' what PW is all about.  Why else, I asked myself, would they have let her bake a cake?


Whenever she wanted to bake when she lived at home, I would inwardly cringe.  My thought was that if I 'gave her an inch, she would take a mile' and I didn't have the energy to cope with that, so baking was something she longed to do while I longed for any excuse for it not to happen.  I knew I was denying her the one thing in the world she wanted to really do - cook! 


Once, for a 'significant' birthday she saved up her money to buy me a cake which she had got decorated in bold letters "Happy Birthday Mum" in lurid blue icing.  She didn't ask for a piece of that cake, and neither did she ask for a piece of her latest cake.  Her great joy was in choosing what she wanted to bake, cooking it, and giving it away, although on any given day of the week otherwise, she is one of the most opportunistic "acquirers" of food I have ever known.  And the most ingenious.  But when she's cooking from the heart (an expression bandied around on every cooking show these days) she has this spirit of generosity and nurturing that you seldom see elsewhere.  Except, I think, in PWS.


So many of our guys with PW have this wonderful spirit of generosity.  It's odd, when you think that the chief characteristic of PWS is always said to be this unrelenting desire to eat - yet, sharing food is something they genuinely love to do.  Francie has done it since she was very little.  It's one of the most disarming traits of the syndrome.


And yes, this latest cake was very nice with a layer of yummy dates at the bottom.  She made it from a packet, but included the dates as she thought I might like it better.  And, I did.

New weight-loss drug: Qsymia

The latest weight-loss drug to be approved by the FDA is called Qsymia (pronounced kew-sum-EE-ah).  It has been prescribed for overweight people, so naturally the world of PWS will take an interest in this. To keep you updated with this from a PW perspective, our Vice-President, Janalee Heinemann, has written this review (below).  You can also find information here: http://www.bu.edu/today/2012/will-qsymia-make-you-thin.  It should be noted that if people are planning to try a drug, it's most useful to do so as part of a controlled trial.

Weight Loss Drug Approved by FDA

By:  Janalee Heinemann, MSW

PWSA (USA) Director of Research & Medical Affairs

IPWSO Vice-President

As many of you are probably aware, there is a new weight loss drug, Qsymia, just approved by the FDA.  The weight loss was more with this drug than with two others recently reviewed by the FDA and one approved (Lorcaserin/Belviq) that was not nearly as remarkable regarding weight loss.  Qsymia is a combination of two older drugs that have long been known to help with weight loss:  phentermine (the safer half of the old fen-phen drug that was banned) and topirimate – a drug that was studied back in April 2000 under a PWSA (USA) grant, “Open-Label Pilot Study of Topirimate in Adults with Prader-Willi Syndrome.” Topirimate is an anticonvulsant drug that makes people feel more satiated after eating, which is why we sponsored the study by Nathan A. Shapira, M.D., Ph.D.  The study showed that Topirimate did not significantly change the calories consumed, Body Mass Index, or decreased self-reported appetite in PWS. In addition, there were no significant changes in compulsions. Surprisingly though, Topirimate treatment resulted in a clinically significant improvement in the self-injury (i.e., skin-picking) that is characteristic of PWS.
The researchers of Qsymia state that it targets multiple brain signals that drive people to overeat.  We cannot say at this time if it will be effective with PWS.  Please know that we will keep you informed of any new outcomes on this and other obesity drugs that might be helpful with PWS.  Currently, I have been working informally with two pharmaceutical companies who are working on potential products that might impact on PWS, but as with all pharmaceutical companies, there are always strict agreements of confidentiality.  We are also working with FPWR on financially supporting the Best Idea Grants post the hyperphagia conference with 2012 One Small Step funds.  We never forget that the #1 deadly enemy of PWS is the appetite.

For those outside "Prader-Willi Land"

After posting last week about our new project, FamCare, I read a post in one of the PWS listservs which I want to share with you.  It describes a parent's feeling of utter joy in finding a place for their adult son.  I know - we all do - that not everyone has this opportunity, and this is why IPWSO has developed its FamCare support; to help families along this rocky road, hopefully to a productive and happy ending.


"After four very difficult years, with many, many ups and downs, our son is finally part of a community where he is just like everyone else, and where the staff "gets" the strengths and needs of folks with PWS.   He has joined some great young gentlemen  and he is over the moon with joy. The young men have graciously welcomed him, and are helping him settle in. Finally, I am feeling the relief that my son will be able to live a healthy, happy and productive life. I feel like we won the lottery!


I wanted to share this with you all, as you are the only folks who will truly understand our joy after so much struggle. No one understands the day to day life of living with PWS like us families. While we love our children and they bring us great joy, they present so many unusual issues and cause incredible stress, that those outside of "Prader-Willi Land" will never understand. For the first time in a long time, I am at peace and can rest."

IPWSO's new FamCare (Family Care) project

IPWSO is exited to tell you about a new venture it is undertaking.  Called "FamCare", it is designed to find ways of supporting families around the world who are caring for their adult child with PWS at home.  We know that there are many of you doing this and looking for answers to questions, or just for someone else to say, "we know what you're going through".

Georgina Loughnan, from Sydney, Australia, who is an IPWSO Board member, is heading up this new project.  She has worked over the past 21 years as a clinician with adults and adolescents with PWS.  She has seen families continually work hard to provide and access the best care possible for their adult children with PWS, and recognises the difficulty that this can pose.  She says:

"As children develop into adolescents and adults, families continue to struggle to find the most appropriate setting for them.  It is these areas that need to be addressed as soon as possible for the adult child with PWS, to ensure that every environment they spent time in is as appropriate to the needs of someone with PWS as possible.

"Finding a school that will step up to the challenges demanded by someone with PWS is a difficult task.  The school years can be most rewarding and above all, secure for a child with PWS if the service providers fully understand the syndrome and the specific needs it brings.  On leaving school, the adult child with PWS faces a whole new lifestyle, one that inevitably offers many opportunities for great independence and high hopes.  However, people with PWS can never survive well with independence, especially in travel or situations that provide even the hint of access to food.

"All environments into which adults with PWS venture need to be appropriately managed to prevent the development of overweight and difficult behaviour.  Where an adult child with PWS remains living at home with the family, it will always be up to the family members and any other people supporting the adult with PWS to make provisions for the best possible environment."

FamCare's aim is to support families who need help, inspiration, new ideas, and just plain common-sense answers to the every-day problems that arise in caring for and managing the situations that arise when living with an adult with PWS at home. 

Watch this space... there will be more!

Reflecting on unfairness...

After writing last week about the importance of forward-planning for our sons or daughters with PWS -  something that will stand them in good stead as they enter their older years - I was rudely reminded how fragile this whole thing can be.  A newspaper article written about Spain's financial difficulties included the story of two families, each with a young boy with PWS whose lives were being well-managed thanks to the availability of Growth Hormone Treatment.  However, because of the fiscal difficulties in their country, access to this treatment had been completely restricted and no longer available to them.  It is a reminder how carefully built networks can so easily be blown away in a puff of wind.

It is so disheartening to read things like this knowing what a struggle it has been - and still is - around the world to convince medical authorities of the importance that Growth Hormone plays in the well-being of those with PWS.  I know what a struggle it was in my country, New Zealand, to convince the powers-that-be to make GHT available to children with PWS, and we had to fight for our rights up to the highest parliamentary level.    It is not only disheartening for parents, but also for the medical professionals who have researched and proven the benefits of this treatment for their patients, only to have it snatched away.

Some might say, at least the boys had the treatment for a few years and this should stand them in good stead, but experience has proved that when GH is stopped, there is a reversal in the muscle tone and, for some, in other areas of development, and this can be quite a major turnaround.  For these Spanish boys, there is a huge injustice in this decision.  There is, in fact, a huge injustice in most countries where GH is not freely available, and where medical treatment, support, and even understanding of the syndrome is not to be found.

IPWSO is planning to develop a series of forums on its website, for the medical professionals, one for the caregivers, and one for parents.  The parents forum - which will have a translation button - is a place where all parents can meet and share experiences.  Most of all, this can be a place where parents can ask questions  which can be directed to professionals who may be able to shed light on a problem.  Sometimes there are no answers, but other parents may have had similar experiences that they can share which may help.

It is important to know we are not alone in the world.

What comes next?

Looking through some papers that have recently made it to my desk, I was reminded by this one just how difficult it is in looking forward and anticipating the needs that our young children will encounter in their lives.  Entitled "Complex Care Needs - PWS" the author of this paper makes the following reflection:

When thinking about multidisciplinary care, the scenario often involves elderly patients with a multitude of chronic diseases. In focusing on a completely different age-group, it was amazing to discover the amount of forward thinking that goes into the care of those with congenital disorders and complex care needs. 

The author, an Australian medical student in her final year, was following the case study of a very young boy.  She noted that his parents had actively engaged with a team of professionals for their son, namely: a paediatrician, GP, endocrinologist, dietician, speech pathologist, physiotherapist and occupational therapist.  The author goes on to point out that:

"Not only do goals and requirements of care constantly change with increasing age and ongoing development of the child, but parents and practitioners are constantly having to forward think about contingencies for any potentially arising complications in addition to putting into place plans for what will need to happen when the parents themselves pass on and their offspring will still require care."

And I agree with her.  There is a huge amount of forward planning that has to go into a child with any disability, let alone PWS, in considering the future quality of life that this child might have.  I would go further and say that all of this planning relies on the ability of the parent/s to be able to work through a quagmire of red tape and bureaucracy in order to get results.  How very difficult it is for any parent to find the right agencies who will provide support,  help and medication for their son or daughter.  And that's just in our Western countries where, somewhere along the line, help can be found.

How much more difficult is it for parents in countries where this help is not forthcoming, or it is too difficult even to find the start of that long and winding road.    IPWSO is very aware of this and has its own large network of professionals in over 90 countries around the world which may be the start point a parent needs.

If you need help - start here.  Email your questions to us at IPWSO  We will do our utmost to help you find answers.

Our Guardian Angels in Israel

Urith Boger talking about PWS.  On the screen is her son, Doran, and his caregiver

Some of the Guardian Angels

On May 13, 2012, our PWS Association in Israel held a charity event in honor of all the caregivers who work in our three different programs.   A charity event is the major means by which we raise money.  We have a tradition of producing an evening whereby a part of it is a presentation of our activity and the other half is a nice musical program. Usually half of the money we raise through such an event is by tickets and half or sometimes even more is by donations from people who cannot attend the event itself.  It is very important to us to meet our circle of friends face-to-face, because it is almost the only way to let the public know a little bit more about the syndrome and the treatment of those who have it.

As mentioned, this year the topic of the event was the experience of the dedicated and loving caregivers of "out of home residences".  We named them "Guardian Angels" because we know very well that they play a crucial role in keeping our children alive, and of saving  the lives of their families as well. 

One of the young men, thanking his caregivers

Each program made a short movie and one of the staff came to speak on the stage. Two of the residents spoke as well.  It was very educating to learn a little about how the care givers view their work, their protégés and their mission. And above all what they learn from being with and working alongside people having PWS. As one of them said so nicely: " It makes me a better parent to my own child". 

(contributed by Urith Boger, PWS Association, Israel)

Dr Larry Genstil with a young man from one of his programs

 

Painting, by Urith Boger, of her son, Doran (on the right) with his caregiver

The folk-singers who gave the concert