Conference, Day 2

Fitzwilliam College, Cambridge

Pictures are of the grounds of Fitzwilliam College in Cambridge.  It's one of the newer colleges so the buildings are more modern than the older ones.  The weather, as you can see, is fine and hot.  It has been this way for many days now with temperatures reaching 30C.  Thankfully, two of the main rooms where the conference is being held, have airconditioning...

Entrance to Fitzwilliam College

Day 2 saw the completion of the Scientific Programme and the Caregivers' Programme.  I was interested in reading some of the posters.  There was one from Israel about pre-natal diagnoses of PWS and whether there are vital 'clues' in utero that might indicate the presence of PWS.  These came mainly from various measurements of the foetus when compared with a normal growth rate.  There are differences in growth, head circumference etc and so now it may seem possible that in the near future pre-natal tests can  in the done in the first few weeks of pregnancy.  I learned that since this has been put into practice for Down Syndrome, the percentage of DS births has diminished considerably.  It is surely an ethical dilemma.

A long-term follow=up study has been done on patients previously presenting with psychotic illnesses, looking at the recurrence of any further incidences and at the general health of the individuals since their partiuclar episode.  Of 20 patients, mostly with the UPD (uniparental disomy) diagnosis, only two had experienced a recurring eposide.  Of these two, one was UPD and the other was PWSDel (deletion).  The majority of patients were taking psychotic medicine, and ten out of 18 were taking more than one type. The conclusion was that relatively few people had more than one psychotic illness; that after regaining their health they maintained it, and that medication played an important role in helping maintain this balance.  This was a study done by Prof Tony Holland et al.

Quite a lot of information is now being gathered as to the often adverse affects of anaesthetic on those with PWS.  Having come through whatever operation it was, there are now some worrying anecdotal stories of patients displaying odd and different behaviours.  Talking to other parents, I found other cases of this happening.  The patient can present with hallucinations, confusion, poor sleep, violence, bizzare behaviour and so on.  It is suspected that these are triggered by their response to the anaesthetic.

I was interested in a poster looking at the amount of depression suffered by parents of children with PWS, particularly the mothers. thirty-nine completed the survey, of which 8 were fathers,  The results showed that 36% showed mild to moderate depression and severe depression was not found.  Personally, I found this rather comforting - it must mean that the support, information, and knowledge that is available today is much better and more helpful than it was some 30 years ago when many of us faced the complete unknown.

(Some views around Cambridge)

Conference: Day 1

From our Japanese children

The first day of the conference started with the Scientific presentations and, alongside this was the Caregiver Conference.  I am simply not able to report on everything (but there will be a report on the conference at a later date), so this blog will just be me talking about the things I have heard and seen.

Although the Scientific conference is always the first place you look to for any new developments, my first interest is always to do with how we can best manage and care for those with the syndrome.  Today I sat in on two of the scientific presentations that interested me, and the rest of the day was with the Caregivers.  The presentation "Can Oxytocin Help in Prader-Willi Syndrome" was of interest to me because of the studies being done to see whether oxytocin, in the form of a nasal spray, will help to modify "behavioural temper tantrums, perseveration, obsessive compulsive behaviours, manipulative conduct, sudden aggression and abnormal food seeking".  Thirty-one participants enrolled in the trial conducted at the University of Sydney, Australia.  Eight participants completed the trial with a lower dose; 17 participants completed with a higher dose.  The age ranged between 12 and 30 years and participants were selected because they had difficult or challenging behaviours.

Behaviours were evaluated daily by a primary caregiver:  hyperphagia, temper outbursts, skinpicking, obsessive and compulsive behaviours and under-reaction to pain.  At the end of each phase the carers also completed questionnaires about the individuals' general behaviours, sleep patterns, social skills and emotional liability.

After all the clinical trials were completed, the answer to the question, "Can Oxytocin help in Prader-Willi Syndrome" was, (and I quote) "No."

Apparently there were no differences noted in any of the above behaviours.

I guess this is disappointing since we all hope for something that will help those with PWS to be less ruled by their behaviours and become happier people, fitting into society.

After that, I sat and listened to part of the Caregivers Conference where a lovely young man called Aneil who lives in a residential setting here in the UK spoke with his caregiver about his life.  These are some of thing things he told us:

• Know and understand me.  
• Don't label me, I am individual.  
• Listen to me and advocate for me.  
• Prioritise the things that are important TO me and be realistic about what is important FOR me.

Somehow it always helps the balance of things to actually hear from the people we are always talking about!

.... More tomorrow!

Linda

An Ambassador for IPWSO!

Daniele ~ The Village Boy Becomes a Man

New parents of a baby with Prader-Willi syndrome (PWS) typically are devastated because they get on the internet and read about children with PWS - low IQ, lack of social skills and behavior problems.  They envision their beautiful baby someday becoming this person who grabs food from others, digs in garbage cans, and cannot be taken out in public.   The people who wrote those articles and did the studies obviously never met 36 year old Daniele, who lives in Italy.  He is the son of our IPWSO Executive Director, Giorgio Fornasier.   



Daniele - paying for dinner!

  To meet Daniele is to be charmed by him.  My latest example was a recent trip to Italy after driving with the Fornasier family to Germany to provide PWS education at the ESPE conference.  Daniele insisted (as he does with all of their international guests) to pay for one nice dinner for all of us. His dad drove him to the bank after his work day ended, but the bank had just closed.  Daniele knocked on the door and told the bank teller that he needed to get some of his money to pay for a special dinner that night.  His dad said he would lend Daniele the money, but Daniele said no, it must be his money.  Daniele asked to speak to the bank President.  The bank President came to the door and after Daniele explained the importance of his request, the President agreed to let him come in and make the withdrawal! 

Over the years, I have observed that in any restaurant in his area in Italy, Daniele is allowed to go back into the kitchen and greet the staff.  He also gets big hugs from restaurant owners, and everyone on the streets of his village knows and greets Daniele.  He always has a smile on his face and a swagger of confidence.  Daniele is the altar boy at mass every week, and also prepares the altar for service.  Daniele also has “adopted” two children in Brazil and pays for their care out of the money he earns.

As far as the male Italian charm, I will never forget the time we were driving and Daniele was sitting between Pam and me, with arms around us and giving us kisses on our cheeks.  His dad told him to cut it out.  After Daniele responded in Italian, I asked Giorgio what he said.  He told his dad, “You are just jealous because you are married and I am not!” 

Compared to anyone with or without PWS, Daniele is exceptional – but so are many of our children and adults who have PWS.  Their charm, their generosity, their capabilities are not what studies are made of – but are the qualities I wish we could share with all of the new parents before they sink into despair.  I wish they could meet Daniele in the hallways of the hospital right after they get the diagnosis.  With a big smile, he would shake their hand, give them a big hug, and tell them they have a beautiful child of God. 

Contributed by Janalee Heinemann, IPWSO Vice-President

PWSA USA Medical Adviser

Your Christmas Shopping is now Complete

I wonder how many of you have a daughter or even maybe a son with PWS who enjoys Christmas shopping so much that unless it is done by mid-August, the world as we know it, will cease to exist?

I don't know what it is - maybe it's genetic? - but it's been like this forever.  Well, ever since the concept of Santa Claus was rudely demolished by the older sisters.  This terrible news seemed to force the issue for youngest daughter (the one with PW) who took it upon her small shoulders to become utterly and completely responsible for the purchase, wrapping, and distribution of Christmas presents.  So anxious did she become that pretty soon the idea of shopping one week before Christmas became unmanageable, and it quickly became one month before, then two, then three, and now if shopping is not complete by mid-August, as I said before, the world as we know it will collapse and crumble.

Nothing has changed, as far as she is concerned, and her own shopping is, as you would expect, now complete.

So, having wrapped that lot up, she advanced on me with her brochure of Avon products, a pen, and a notebook so that I could make some detailed choices.  Nothing, it would seem, would prevent her from accomplishing the result she wanted - to sell me as many Avon products as possible, so that she could benefit from the kickback that being an Avon representative would give her.  Did I mention that she was a self-styled Avon rep?  Earlier this year, she answered an advertisement in the little local paper and signed herself up; along with her ever-patient caregiver who has been delegated a 'silent supervisor' who handles the money and oversees the distribution and collection of brochures.

Next, she advanced on her rather frail grandmother complete with Avon brochure, pen and list of people that Grandma would probably want to give presents to.  Thankfully, daughter was extremely patient and gentle and the feedback I had was that she was very thoughtful and had some excellent ideas.  For which I am eternally grateful!

When she was very little (daughter, that is, not Grandma) she would also take it upon herself on Christmas Day to distribute all the gifts to everyone.  Not just hers, everyone's.  As you might imagine, this also included the exact time when this should be done.  Which meant that to avoid a fully impacted disaster, we had to learn patience and give in to this ritual.  It was not appreciated by Older Sisters.  However, as she grew older and slightly more wiser, she has allowed this ritual to be changed to her distribution of gifts into designated piles which people are allowed to open at their leisure.  Phew!  Disaster avoided.

However, the early Christmas shopping I doubt will ever be changed and as she comes from a family whose best skill is shopping-at-the-last-minute, she will always be the odd one out... unless she manages to convert everyone to the joys of brochure shopping with Avon!

Men & Grief

While we've been on the topic of grief recently, I was reminded of an article about men and grief that  I once asked for to go into our newsletter many years ago now.  I wanted to know why some fathers grieved differently from mothers and why men grieved differently from women.  Bear in mind this was a while ago, and I'm quite sure that, generationally, things have shifted significantly.  But if they haven't, for you, then maybe this might help.  You will also notice that in this story diagnosis had been late, as it still can be in many countries and there was no help with feeding.  This family really struggled.

"I had been looking forward to the birth of our first child. For months I had been fascinated by her movements insider her mother; at the beginning little flutterings and then as the months passed, stronger, more vigorous movements. It was exactly what one would expect of a strong, healthy baby.

I was present at my daughter's birth, an experience that defied words All stories and all films that had the birth of a child in them made much of the initial birth cry. I was absolutely unprepared for our experience: she arrived without a sound. I have a clear picture of the doctor holding her up, her little mouth shaped like a cry — but there was no sound. I am unable to describe what came over me at that moment — words like shock, disbelief, do not even hint at what I felt.

My overriding reaction was what I can only call resignation; whatever would be would be and I had no power whatever to change any of it. I was devoid of feeling. That stayed with me for moths. The only thing that broke through my lack of emotion in those early days was a kind of subdued elation when our little girl would actually swallow milk from an eye-dropper which was the only way we could feed her. Eventually our efforts weren't enough and she had to be tube fed at hospital.

At work I was an automaton. I have little recall as to whether I was happy or sad, warm or cold; I had no appetite. I used to enjoy a drink. I never tasted the stuff from this time for months afterwards!

As the hospital testing continued to determine what the condition might be, I became aware how differently my partner was responding. She saw all tests as a challenge. I was indifferent to the various tests and as each eliminated this or that possibility she saw all these as major victories. The diagnosis at this stage was benign hypotonia.

I was conscious that I was unsupportive. My partner's hopes were constantly undermined by my scepticism, actively negative and yet, I could not break out of the "what will be, will be" mindset. While my wife wanted to talk about progress and development and testing, I just wanted to be left to myself. I had closed off — little outside myself held any interest. I "escaped" into Wilber Smith.

A friend was a good listener, but I could only share at a superficial level. Talking was not helping as the overriding feature of "all this talk will not change anything" undermined any chance of healing.

The second stage was marked by my waking one day and noticing the sun was shining. I felt warm for the first time in months. This time pin-pointed another stage: anger. Wild mood swings, optimism (that our little girl would be "normal," that she would outgrow this strange condition) followed by depression caused by the uncertainty of what the condition would mean long term. I cried more now — most nights. Sleep was full of curious dreams and I would wake up exhausted. But there was less of "what will be, will be." By now our little girl was drawing me more and more into her life. I felt I was able to share more of my partner's hopes. The future seemed much less fixed.

Eventually our daughter's strange condition was diagnosed as PWS. It took me a long time to accept this. I read all I could about this syndrome — the information coming from my partner's research; a book here, a paper there, an article somewhere else. After a time I noticed a shift in what I was feeling. The crippling resignation had given way to a hope that what was now, did not have to be in the future. My wife was already planning counter measures for our daughter to run against the classic symptoms — extra help for learning, exercises to firm up the little muscles, games to keep her stimulated.

Sometimes it seems a long time ago; more often it feels like yesterday. A kind of emotional evenness came when she was five and a wholeness at seven. The anniversary is still hard, but my partner eases me through it each year.
Yes, we men do cope with grief differently. Education should enable us to cope better."

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.

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.

International Caregivers Conference

Very soon, in May this year from 7th - 9th, the third International Caregivers Conference will be held in Germany.  This is held in partnership with two residential providers in Germany: Regens-Wagner Absberg, and the Diakonische Stiftung Wittekindshof.

Pam Eisen, opening the first conference in Herne, Germany

This conference is specifically for professional caregivers and attended by countries from around the world.  This was the brainchild of Pam Eisen, IPWSO's past President, and as such has provided the world with the new International Best Practice Guidelines for Residential Care for Prader-Willi Syndrome.  (Copies of this are available here from IPWSO.)    All participants attend workshops of their choice and contribute their own knowledge, ideas, concepts, and country's models of care, which then get translated into draft guidelines.  Each workshop has a facilitator, a scribe, and a translator.  At the end of each day, time is taken to write up all the notes which are tacked up on large boards and presented at the "market place" where everyone gathers to hear what has taken place.  These draft guidelines are then thoroughly discussed and tested by the PPCB before becoming recommended as international best practices.  In effect, they are contributed by each and every caregiver from all corners of the world - what more could you ask for!

Topics included range from the understanding of the syndrome and its characteristics, nutrition, weight, exercise, psychological make-up, psychiatric care, communication, social skills and empathy, what makes  a good residential home run well, the transition into and out from the education system, to, more recently a topic for this year's meeting, how to develop a PWS curricula for staff.


Because these guidelines are something IPWSO wants to be able to endorse internationally, there are, understandably, very different cultures contributing some very different ideas and it is always interesting and exciting to learn how these cultures can be absorbed into our international network of care.  And, not to be forgotten, are families supporting adult children at home.  Their needs are just as great as those in residential homes and must be acknowledged and woven into the whole concept of care.

The 1st and 2nd conferences were held here in Herne, Germany

Care must  be holistic and inclusive.  It needs to acknowledge that home life has a series of transitions to overcome - from home into school, from school into the workforce, and also into the community.   IPWSO and the PPCB strive to support all our families, our residential providers, schools and educationalists, as well as medical professionals throughout the world.

One of the workshops' diagram of "Anatomy of a crisis"

This is not a small task, and the PPCB is completely dedicated to helping provide professional support and help through its combined international knowledge.  This year's conference is in Wildbad Kreuth, about an hour's drive from Munich.  Speakers are from all corners of the world, there are two days of workshops (and 'work' is the operative word!), and the best opportunity professional caregivers will ever have to work with some of the world's experts in this specialised topic.

If you are a professional caregiver and would like to attend the conference, please go here for registration information.   Likewise, if you are a parent and have a son or daughter in residential care and think it would be beneficial for someone to attend the conference, please let them know.

As usual, we have great expectations from this unique gathering, all in the name of Prader-Willi Syndrome!

Onwards and upwards!!

February at IPWSO

February has been busy, as usual.  We have had several requests for help and been able to send information and network with other professionals in a bid to help our families across the world.

A 26 yr old woman with PWS living in Kuwait who has had little or no support throughout her life.  At this time we don’t have educational material in Arabic, so we contacted one of our consultants in the States who is now following this case and supporting the medical professionals.  We had a similar case in Sudan which has brought up the same problems of having no educational material in Arabic available yet.

We sent information to a doctor in New Delhi about bariatric surgery in PWS, and supported another enquiry from India with a free diagnosis at BIRD for a 20 year old patient with a clinical diagnosis of PWS.  Our professional delegates in Lithuania and also Guatemala requested instructions on sending blood samples to our lab in Italy for a suspect case of PWS. 

In Malaysia, we were delighted to learn of the first gathering of PWS families in Kuala Lumpur on 19^th February.  This coincided with a new contact from Malaysia needing help and we were able to put them in contact with our professional delegate, and the new family gathering.  They were delighted and relieved as the only information they’d been able to receive was in Singapore, which meant the financial cost to the family was quite high.  

We had a request for information for medical references from an English family living in Dubai, butthis is another area where we are in the early stages of trying to build professional networks.  We sent her our packages of information.  Other educational and support information was sent to Porto Rico where they are keen to establish a parent support group in her country, and educational information was sent to the PWS Association in Colombia.

Our parent delegate in Spain put us the following question: ”We have problems here in Spain because some doctors do not allow GH therapy on several children with PWS that are only 11-14 years old. What is happening in the rest of Europe or the world? Do you know?”  His request was sent out to most of our member who immediately replied to him.

On Leap Day, February 29th, BIRD organised a wonderful event in a beautiful theatre in Vicenza (Italy) to celebrate the International Rare Diseases Day.  Over 1,000 students and their teachers from local high schools participated.  Giorgio gave a short talk about his experience as a parent, then sang "Ich Auch" (listen here) at the end, with great success!
 

Finally, we are indebted to our wonderful supporters who have lit candles to help IPWSO continue its work across the world – we thank you so much for your graciousness and generosity.  You can check on the candles by going to our Light A Candle for IPWSO page.

 

One of IPWSO's three information packages:  General Awareness, Medical Awareness, and Crisis Intervention

Invoices for membership fees 2012 have been sent out, and the following member countries are now subscribed for this year:

• Australia
• Finland
• France
• Germany
• New Zealand
• Norway
• Slovakia
• USA