Stages of Hypophagia

One of the the major characteristics - if not the main one - is the issue around eating, appetite, and the fact that there seems to be no "on/off" switch to regulate the appetite.  It is ironic that a newborn babe is virtually unable to feed, yet this turns completely around to become a child who simply cannot stop feeding.

Most of us understand that this is a genetic condition and something that cannot be cured, but it can be managed.  I found the following chart in a paper entitled Clinical Characteristics of the Nutritional Phases and thought it was really interesting to track these phases with the stages that my daughter went through.  Now that she is in her early 30s, she is, generally speaking, a lot more flexible around food and will accept changes if there is a good reason for them.  It's been a long time coming, I have to say.  We still lock food cupboards and the fridge and she can't really be trusted around food that is left out, and she's still very opportunistic (will take every opportunity if it's left open to her), but she's clearly not the teenager that we had huge challenges with.

Of course, everyone is different and there is a huge scale of difference where the person you know with PWS might fit in.  The reason I'm sharing this Table with you is simply because when my daughter was growing up, other people could just not understand her obsession with food, her behaviour around food, and the very real consequences it had - not just for her, but for our whole family.  This Table is pretty clear in its definition and this is a good thing to share with those who just don't 'get it'.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TABLE I. Clinical Characteristics of the Nutritional Phases

Phase 0      

• Decreased fetal movements and lower birth weight
• Full-term birth weight and BMI are about 15–20% less than the siblings
• Typically normal gestational age
• 85% have decreased fetal movements

Phase 1a    

• Hypotonia with difficulty feeding (0–9 months)
• Weak, uncoordinated suck. Usually cannot breastfeed
• Needs assistance with feeding either through feeding tubes (nasal/oral gastric tube or gastrostomy tube) or orally with special, widened nipples. Many would die without assisted feeding
• Oral feeds are very slow
• Severely decreased appetite. Shows little or no evidence of being hungry
• Does not cry for food or get excited at feeding time
• If feeding just occurred when baby ‘‘acted hungry’’ then would have severe ‘‘failure-to-thrive’’ Weak cry

Phase 1b   

• No difficulty feeding and growing appropriately on growth curve (9–25 months)
• No longer needs assisted feeding
• Growing steadily along growth curve with normal feeding Normal appetite

Phase 2a    

• Weight increasing without an increase in appetite or excessive calories (2.1–4.5 years) Infant starts crossing growth curve centile lines
• No increase in appetite
• Appetite appropriate for age
• Will become obese if given the recommended daily allowance (RDA) for calories or if eating a ‘‘typical’’ toddler
• diet of 70% carbohydrates
• Typically needs to be restricted to 60–80% of RDA to prevent obesity

Phase 2b   

• Weight increasing with an increase in appetite (4.5–8 years)
• Increased interest in food. Frequently asking ‘‘food related’’ questions
• Preoccupied with food. Very concerned about the next meal/snack (e.g., ‘‘Did you remember to pack my lunch?’’)
• Increased appetite
• Will eat more food than a typical child if allowed
• Will eat food within their line of sight if unattended
• Will become obese if allowed to eat what they want
• Can be fairly easily redirected about food
• Can feel full
• Will stop eating voluntarily

Phase 3      

• Hyperphagic, rarely feels full (8 years - adulthood)
• Constantly thinking about food
• While eating one meal they are already thinking about the next meal
• Will awaken from sleep early thinking about food
• Will continue eating if portion size is not limited
• Rarely (truly) feels full
• Will steal food or money to pay for food
• Can eat food from garbage and other unsavory/inedible sources (e.g., dog food, frozen food, crayons, etc.)
• Typically are not truthful about what they have eaten (i.e. amount and types of food)
• Will gain considerable amount of weight over a short period of time if not supervised (e.g., some individuals are known to have gained up to 20 pounds in one weekend)
• Food typically needs to be locked up. Frequently the child will ask the parent to lock the food if the parent has forgotten Will break into neighbors’ houses for food
• Temper tantrums and ‘‘meltdowns’’ frequently related to food
• Needs to be placed on a diet that is approximately 50–70% of the RDA to maintain a healthy weight

Phase 4      

• Appetite is no longer insatiable (adulthood)
• Appetite may still be increased or may be normal or less than normal
• Previously in phase 3, but now a noticeable improvement in their appetite control
• Can feel full
• Appetite can fluctuate in this phase, but the key component is noticeable improvement in control of appetite compared to when they were younger
• Not as preoccupied with food
• Absence of major temper tantrums and ‘‘meltdowns’’ related to food
• Onset in adulthood. Could be as early as 20s or as late as 40–50s
• Most adults have not gone into this phase and maybe some (most?) never will

 If you would like to read the full paper, contact me and I will send it to you.:

Nutritional Phases in Prader–Willi Syndrome

Jennifer L. Miller,¹ Christy H. Lynn,¹ Danielle C. Driscoll,¹ Anthony P. Goldstone,^1,2 June-Anne Gold,³

Virginia Kimonis,³ Elisabeth Dykens,⁴ Merlin G. Butler,⁵ Jonathan J. Shuster,⁶ and Daniel J. Driscoll^1,7*

1

Department of Pediatrics, College of Medicine, University of Florida, Gainesville, Florida

2

Department of Imaging Services, Hammersmith Hospital, London, England

3

University of California Irvine, Irvine, California

4

Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee

5

Departments of Psychiatry and Behavioral Sciences and Pediatrics, Kansas University Medical Center, Kansas City, Kansas

6

Department of Health Outcomes and Policy, University of Florida, Gainesville, Florida

7

Center for Epigenetics, College of Medicine, University of Florida, Gainesville, Florida

Received 11 September 2010; Accepted 25 January 2011

Letter from America

Joan Gardner writes...

One morning, I woke up and found myself the USA Parent delegate to IPWSO with a life full of new friends and amazing experiences.  How did this happen?!

In December of 1968, our son Larry was born and by March we learned from a pediatric neurologist that he had Prader-Willi Syndrome.  Forty-eight years ago, there was no internet and actually only two medical journal articles which Larry’s doctor withheld for several years despite my complaints that we wanted them..  He was “afraid to scare us”!  Really, an exact quote!

Minnesota, our home state, was the repository of PWS information in the early days.  We can take no credit but the first successful dedicated PWS home was founded here for 15 residents by determined parents who collected donations at an exploratory meeting.  They gathered $15 and went to work.  Marge Wett also led the USA national board for 14 years out of her house here and the first and fourth national conferences were in Minnesota.

Somehow, as energy had slowed down in the older families, Jim was elected president at a PWSA of MN meeting that he had not even been able to attend.  The serving president had just discovered that his daughter had Angelman’s Syndrome not PWS (there was no PWS specific genetic testing in those days).  We began gathering and networking our Minnesota families.  We had a pool of names and old attendance sheets in a tin box that still smelled of old cigarette smoke.  Jim also served as treasurer of PWS USA for many years.  We became devoted attendees of the USA annual conferences where we learned all the new research and management advice, such as it was at the time.   Still there was no internet.

Fast forward to 2001, as complete amateurs, we are hosted a combined IPWSO and PWSA USA conference in Minnesota.  There were 1250 attendees: over 200 scientists, 120 professional caregivers, 300 people with PWS including babies and adults (and required 100 volunteers a day!) and 500 plus parents.  We had no staff and little experience but an amazing cadre of volunteer friends and truly expert international program chairs.  I still cringe when I enter the conference hotel but it was a huge success and even provided funds to MN, USA and IPWSO for future programming.  We were very lucky!

 

 

Larry and his best friend

IPWSO has taken us to Italy, Romania, Taiwan, New Zealand, Cambridge and of course Canada.  Attending an international or regional conference is an incredible experience and worth every extra effort.  There are scholarships if one needs financial help to attend.  If you can afford it, contributing to someone else’s experience is just as rewarding.  PWS conferences are unique.  The experts come to share with each other in order to advance PWS knowledge and management.  Even more amazing, they come to share their time openly with us, the families and our children.  Informal encounters in the hall, lobby or meeting breaks are times to connect with them.  They welcome us and no one is too important to spend time with an interested family.

Larry with the biggest fish!

Remember, if you choose to host a conference, IPWSO will help as best it can to assist with expertise and experts.  One physician even learned Spanish to be able to talk directly with families at a South American regional conference!  However, IPWSO can only help as much as funding permits.  As you balance your busy life, please make a donation to IPWSO a priority if you can.  Perhaps, you have family or friends who care about your child and would like to show this with a gift to IPWSO.  Right now, all new gifts will be doubled with matching money from a generous foundation.  This is an opportunity to help others receive a diagnosis, learn how to care for their child,
receive information in their own language, attend a conference, or even put on a program for the first time.   Sharing together is what has brought us to this extraordinary level in Larry’s 48 years.  Let’s keep this going!

If you care to donate to IPWSO, just click on the iDonate button above.  You donations will be in Euros and will be matched by the KB Anderson Trust until the end of this year.  We are so grateful for your donations which help our work around the world!

PWS Clinics - summary from Toronto Conference

(We asked for comments from some of our professionals attending the IPWSO Conference in Toronto recently.  This summary comes from Georgina Loughnan, IPWSO Board member and Chair of our Famcare Committee.  Two reports of multidisciplinary clinics for people with PWS who some interesting statistics including the mean death rate, sexual activity and relationships, dietary management and asks the question "Why are there not more clinics around the world?"


PWS Clinics –IPWSO Conference Toronto 2016 Scientific Session
 
Dr Laura de Graaff (internist-endocrinologist) – Rotterdam

Multidisciplinary outpatients clinic for adults with Prader-Willi syndrome

THE ROTTERDAM EXPERIENCE

Healthcare Improvement Programme was supported by Pfizer lead to the establishment of this clinic at the new Erasmus Medical Centre which provides research, education, pediatric and adult care.
The multidisciplinary team includes: an endocrinologist, dietitian for mentally disabled, a behavioural specialist, a physician for Mentally Disabled and an Outpatient Assistant. Other specialists accessible for referral include cardiologists, neurologists,  ophthalmologist, psychiatrists, orthopaedic surgeons, gynaecologists and urologists.

Established to provide: expert care and support of patients with PWS; support for caregivers; research; education of other medicos and nurses.

Each client has a personal health care plan and SOS Alert Cards created for them.
61 clients seen within the first year of the clinic – 66% with Deletions; 31% with UPD; 3% Imprinting Centre Defects

Online questionnaire used for patient admission – 25 questions
Client status
•    Residential:  65% in non-specialised residential homes; 5% in PWS specialised homes; 20% with family
•    Medications: Vitamin D 59%; antipsychotics 17%;  calcium 20%; statins 9%; diabetic – Insulin 6%/Tablets 6%; GH 30%; androgens male 68%:female 50%; thyroid 15%; hydrocortisone stress dose 29%.
•    Exercise: 30-60 minutes per day 44%
•    Diet: 25% not on a diet; 30% use Happy Weight Dot diet
•    Untreated hypogonadism: males 30%; females 50%
•    Scoliosis in 73% of patients
•    20% in a relationship (33% sexually active)

Patients and parents very pleased to have OPC with experts in one team & email and phone accessibility.






A Prader-Willi Syndrome Clinic – is it worth the effort?

Georgina Loughnan (physiotherapist) PWS Clinic Sydney, Australia
 
Review of a public hospital adolescent and adult PWS clinic that has been in running  for 25 years
Clinic started with 1 client at 1 half session per month, in an existing multi-disciplinary  Endocrine Staff currently include- endocrinologists, nurse, 2 dietitians, physiotherapist

87 genetically diagnosed clients have been seen: 46 Male; 41 Female – 58.6% with Deletions
Current mean age: 31.7 years. Six clients are 50 years or older

Mean age of deaths 1991-2001 – 31.1 years; mean age of deaths 2002-2016:  37.8 years

44% of clients have a BMI of ¬¬> 40 kg/m2

In 2015 the clinic evaluated the service provided by surveying the parents and caregivers of attending clients. The highest rated “Perceived Benefits of the Clinic” were Ongoing Support – 89%; Lifestyle Advice 80%; Group Programme 71%.

The “Perceived Effective Management Strategies for Weight Loss” of most importance were Restrictive Practices 89%; Consistent Management 89%; Medical Management 80%

Managing a Clinic for people with PWS has highlighted  several key points:
1) the need for improved of PWS awareness amongst medical and paramedical staff/ guardianship boards/ all service providers/educators/community workers and government funding bodies.

 2) the importance of home based exercise for effective weight loss

 3) the important role that appropriate PWS residential care plays in the health and longevity of clients with PWS

Unexpected benefits from the clinic have been identified as
1) being a powerful resource for others who require information and support for the care of someone with PWS - from families to funding bodies and other professionals. The ability to implement hospital inpatient policy 
2) the comfort provided for people with PWS
3) the strength of medical advocacy 4) the reduction of parent and caregiver burden, by the clinic being the “authority figure” and “scapegoat” for clients.

Negatives of a public hospital clinic: - many people who do not understand PWS / shared departmental waiting rooms / the presence of hospital food –  cafeterias, inpatient food trolleys / hospital codes of behaviour .

What helps to run a PWS clinic – support staff/ flexible  job description / stepping outside the square / regular contact with parents and caregivers / other PWS resources / passion for working with people with PWS!

Worldwide issue, including in Australia  - the need for more public hospital PWS clinics.

Fundraising? Bor-ing!

Ok.  Give me one good reason why I should bother?  Huh?  I'm quite ok, thanks.

And, quite honestly, that's about it.  That's the one good reason why most of us don't bother, because we're quite ok, thanks.  We're lucky.  We live well, we eat well, we have good educations and we're doing just fine.

Well, sweeties, that's just the reason why I'm giving you a little nudge and asking you to think of all the thousands of others who don't have the same privileges.

Tell me, what was it really like that day when you first got the news that your baby son or daughter had Prader-Willi syndrome?  You couldn't believe it, right?  Well, you wouldn't believe it.  Prader-what?

One week old.  How hard I tried to make it seem normal.

For nine months you carried a different child.  One with all your hopes and dreams, the child who would be perfect!  I did that, too.  But she wasn't diagnosed until she was 3 years old, so I had 3 years and 9 months to speculate about my perfect daughter.  Wow - what a crash that was when it happened.  How the world crumbled, how darkness fell and just wouldn't lift.  How I buried myself away for years before I could face the reality of what my life was now going to be like.

I know you know this.

And I know you know, just as I do, that mothers and fathers around the world are continuing to feel that cold blast of reality as they face situations they prayed would never happen.  The despair; the anger and hatred of three little words: Prader, Willi, syndrome.  The pity from others, the ongoing battle to make it right.  The desperation to make it somehow normal.

Struggling at 5 months to lift her head

For 3 years I tried to pretend it would be all ok in the end.  That I would wake from a dream and smile to think I was so fearful.

And of course, it didn't happen.

I had to wait 3 years, guessing, hoping, crying, and hiding. I couldn't bear it.  And that was in a western country where life is comparatively cruisy. 

But many of us have now overcome that battle; accepted what cannot be altered, and learned to live with it and do our very best by it.  Time has moved on.  Diagnosis can be instant, and if not instant in your country, then free if you come to IPWSO.  Information in 15 different languages.

Many of us have gone further and become flag-bearers in organisations which offer help and support.  To be honest, I did this because had I not, I would have gone mad, or curled up and died.

But every charity needs funding and without it, we fade away, disappear.  But we owe it to every parent in the world not to do that!  So I call out to you all, everyone reading right now, and ask you, would it be too much for you to give a few dollars to make a difference in someone else's life?  To give them the knowledge that I never had; to give them hope in words of their own language... just to help someone else?  Please?

Every donation given until December 2016 will be matched by the KB Anderson Trust

Exciting new bloodspot screening

(The following is a summary from James O'Brien, IPWSO Board member, from Australia, who attended the recent IPWSO Conference in Toronto)

A Novel FMR1/SNRPN methlation test for Fragile X Syndrome and chromosome 15 imprinting disorder screening of symptomatic children and newborns.

By David Godler, Cyto-Molecular Diagnostics Research Laboratory, Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Australia.

David Godler spoke about his research into newborn bloodspot screening over the past 18 months, primarily into Fragile X diagnostic. Recent funding from the Foundation for Prader-Willi Research, USA, has enabled David to expand his work with fragile X to include the Chromosome 15 imprinting disorders: Prader-Willi Syndrome (PWS), Angelman Syndrome and 15Q Duplication Syndrome.

The presentation was about David’s two new methods of testing blood collected in a tube and blood spots from adults, children and newborns. A newborn blood spot is the tiny spot of dried blood on blotting paper that is already taken through a heel pin prick for almost all newborns within the first few days of life in many countries. The tests currently performed on this material identify 30 or so conditions including phenylketonuria, hypothyroidism and cystic fibrosis, but not PWS.

Initially David and his team developed a new Methylated Specific Quantitate Melt Analysis (MS-QMA) test for Fragile X. To enable him to test 100,000 newborn bloodspots he also developed technologies to automate the process and to confirm positive findings. He is now able to test 100 samples in 90 minutes rather than the old 2 to 3 day turnaround for each test. At the same time his team developed new software to monitor both the results and accuracy of the test, and this method had been published for Fragile X. Accuracy of this test appears to be nearing 100%.

The beauty of his new test is that it can be performed on blood spot material left over from other routine testing. This means that the babies suspected of PWS would not be required to undergo collection of another blood sample required for more traditional diagnostic methods. It would also mean that the PWS babies that may not be tested for PWS and initially missed because they may be premature or may not have typical PWS, would be picked up by this new test. This would be because newborn blood spot testing reaches virtually all babies born irrespective of symptoms, but current PWS testing is only performed on babies that show symptoms that are recognized by doctors to be associated with PWS.

David’s first step in PWS test development was to analyse blood DNA samples from patients that had PWS symptoms, with only 9 patients confirmed to have PWS by standard DNa testing. From the first 30 symptomatic referral samples tested, his MS-QMA test confirmed 100% agreement for samples positive by standard testing. In addition to these  3 previously undiagnosed cases of PWS were identified. In order to prove that his new test was not simply showing false positives, David needed to develop an even more accurate second line confirmation test.

His second test he has called CINQ Droplet Digital PCR, which looks at individual methylated and unmethylated chromosomes suspended in miniature droplets. Exact details of how this new test works (or what the letters even stand for) are not yet published, however, its accuracy appears to be much higher again than standard testing, able to detect abnormal methylation down to an unprecedented less than 0.1% in the PWS deletion group. Furthermore, the new test has confirmed positive MS-QMA results missed by standard testing, and is showing that a number of previously diagnosed Uni Paternal Disomy (UPD) individuals may actually be Triasomi 15. The unexpressed male 15 chromosome appears to be hiding in the background rather than showing up on previous more traditional tests.

Furthermore, a new group of Mosaic PWS is likely to emerge. David is doing some further work on this subset. (With mosacizm PWS may not be present in every cell in the body. Depending on which cells in the body have the PWS variations may result in changes in how the characteristics of the Syndrome present, especially in UPD).

So, what does this mean for children with PWS?

• ·       David and his team have come up with two new and seemingly very accurate methods of testing for PWS using blood spots and other sample types.

• ·       The tests appear to be picking up previously unconfirmed cases of PWS.

• ·       A new subset of T15 within the UPD group seems likely.

• ·       A new phenotype of Mosacizm is possible.

• ·       Bloodspots can be taken at newborn or at any age, resulting in a less invasive, more accessible and sensitive method of obtaining a PWS DNA test than is currently available.

 Where to from here?

 In 2015 David and his team have been awarded a large NHMRC grant to test 100,000 newborns for fragile X (the world’s largest fragile X prevalence study), and is hoping to use the remaining materials and expensive infrastructure initially developed for Fragile X, for PWS testing. Funding is currently an issue for this larger project, and David is now applying to multiple granting bodies to make this possible. In a less expensive project, over the next 3 years David and his team has started recruiting and assessing PWS patients to perform analysis of how the low level mosaicism identified by his two new tests related to variation in severity of PWS, especially in UPD. Concurrently, PWSA Australia has commissioned a Health Economics Report to analyse the financial benefit of early diagnosis. If the test is proven accurate, David and PWSA Australia will approach State or National Newborn Bloodspot Screening Programs with his two tests and our Health Economics Report to apply for the inclusion of PWS in their testing programs for all babies born in Australia.

If admission to the NBS programs is successful:

·       We should start to see a diagnosis within a few days of birth avoiding unnecessary multiple tests and prolonged family stress when waiting for a diagnosis.

·       Doctors, specialists and scientists will be able to develop a more detailed understanding of the various phenotypes of PWS, possibly enabling better targeted clinical interventions.

·       Testing of all babies will give a definitive answer regarding the prevalence of PWS live births in Australia.

David cited individual colleges that are assisting in the research from Cyto-Molecular Diagnostic Research Group, Victorian Clinical Genetics Services, Royal Children’s Hospital, Victorian and New South Wales Newborn and Metabolic Screening laboratories, Genetics and Learning Disabilities Services (Newcastle and The Children’s Hospital (Westmead, Sydney).

David also acknowledged assistance from a number of organisations including VCGS, Royal Children’s Hospital Foundation, The Marion and EH Flick Trust, Australian Government, Thrasher Research Fund, and Foundation for Prader Willi Research

Note: This report is James O’Brien’s understanding of David Golder’s presentation and may contain inaccuracies in its interpretation. 4 August 2016

Don't let Eugenia down!

Not so very long ago, let's say 20 years ago, these were the most well-known photographs of someone with Prader-Willi syndrome.

Who was she?
Some time in 1680, this young girl, just 6 years old, was painted by the Spanish royal court painter because of her 'unusual deformity'.  Her name was Eugenia Martinez Valleja, but no one really knew her name she was just known as La Monstrua. Even today, if asked, few would remember her real name - Eugenia.  Poor kid, never to be understood.

When Dr Andrea Prader (who, along with Drs Willi and Labhart, first wrote about the syndrome and later gave it their name) first saw this painting he declared that in all likelihood Eugenia had Prader Willi syndrome.   Some stories tell of her very bad temper and how she would be given into in order to avoid her strenuous wrath.  But we don't know what became of her, or how long she lived we just recognise her as an early icon of Prader-Willi syndrome.

Eugenia's portrait was painted 336 years ago.  It was to take another 277 years before our Doctor friends Prader, Willi, and Labhart were to distinguish a cluster of features that led to the naming of the syndrome.  This occurred in 1957 and the life expectancy was still very low with most children dying before the age of 20.  Why was this?  Well, it certainly had something to do with the knowledge we have today simply not being available. Literacy itself was a challenge and life expectancy in 1600s was only 35 if you were lucky and healthy.  Infant mortality was extremely high.  So Eugenia was lucky to even live as long as 6 years.

Was Eugenia the only one?
Well, no.  Today we know that the incidence rate of PWS is 1:12,000.  So one might expect that in a country like Spain where Eugenia was born and where today's population is just short of 47 million, that there might theoretically be a PWS population of 39,000.  Let's take it further; on earth live approximately 7 billion people.  Using the same incidence rate, that gives us, theoretically, 5.8 million  people with PWS.  Where do they all live?  Answer - in every country and everywhere.

How can we reach out to nearly 6 million people?  We do it country by country, PW Association by PW Association, family by family, person by person, one day at a time.

Many die before we can reach them.   Young Sultan from Kazakhstan was not able to access the medical treatment he needed.  There was no parent support group, very little medical knowledge and Sultan's condition gradually became worse.  Sadly, he died on February 2, 2011. Sultan was much loved by his family.

He was 18 years old.

His family had only just been able to contact IPWSO shortly before he died and through our medical consultants had been able to learn about the syndrome. 








This is Shelly.  She died when she was 21 years old,  Life for Shelly and her family was incredibly hard.  PWS was not understood until it was already too late.  There have been many cases like this, far too many.

I am showing you these photos because this is what life is like, still, for many families around our world.  I am showing you because in the last 60 years since PWS has been described, we have come a long long way, but we still have a long way to go before we can claim parity amongst nations.


IPWSO has been around for 25 years.  What have we done?

• Helped country after country claim the right to a better health care programme for PWS.
• Supported research and helped fight for the right to have GHT available for children around the world 
• Hosted international conferences (9 to date) where research has been encouraged and shared
• Collected together 103 countries to form our very large 'family' of support
• Translated information into over 15 different languages
• Supplied up-to-date information on scientific research papers, distributed quarterly
• Supported families, teachers, residential caregivers and provided information and training

By doing this, we can see the results we have achieved in the faces of those with PWS, their families, teachers and caregivers.  We know we are making a difference.



Where do we go to from here?   

We can see the benefit of all of our work around the world:   Happy, healthy young children, the greater majority of whom are able to access Growth Hormone treatment, attend school and be supported by their teachers, thanks to the information that their families provide, that their country PW Associations provide, that IPWSO provides.

We encourage research by continuing to support our own IPWSO conferences,

We support growing PW Associations by sending internationally renowned speakers to meetings, seminars and first-time conferences where there has previously been none.

We continue to translate information

We continue to support families.

How does IPWSO operate?

Very simply!  We have two part-time paid workers, a Programme Director and a Communications Coordinator.  We have a Board of Directors and a Clinical & Scientific Advisory Board, we have a residential care-providers' Board (PPCB) and a Family Support Board (Famcare) all of these people work pro bono for us.

We have delegates (a parent delegate, medical delegate and caregiver delegate) from each our member countries who make up the backbone of IPWSO.  We are in regular contact with our member countries and rely on them to help us spread information around the world.

How is IPWSO funded?
When IPWSO held its very first international conference, funding was granted from the World Health Organisation.  After that, and when it became obvious that there would be a demand for Growth Hormone treatment, Pfizer gave IPWSO an unrestricted grant for many years.  But nowadays funding is much harder to find.  We no longer receive grants from Pfizer and we rely simply on the subscriptions from our member countries and donations from many of our philanthropic friends to whom we are hugely indebted.

Frankly, finding funding is very difficult!
If you feel you could support us in any way at all, would you please either contact us directly, or donate via our iDonate page which will take donations both small and large!

Don't forget, every dollar donated before the end of the year will be matched by the KB Anderson Trust!

Is it too much to ask?

What's our greatest wish?
To find ways of helping everyone, every family, every country where there is a need to support people with PWS live a fulfilled and happy life.  Forever.  We owe it to Eugenia not to let her down.

Don't let Eugenia down!

Not so very long ago, let's say 20 years ago, these were the most well-known photographs of someone with Prader-Willi syndrome.

Who was she?
Some time in 1680, this young girl, just 6 years old, was painted by the Spanish royal court painter because of her 'unusual deformity'.  Her name was Eugenia Martinez Valleja, but no one really knew her name she was just known as La Monstrua. Even today, if asked, few would remember Eugenia.

When Dr Andrea Prader (who, along with Drs Willi and Labhart, first wrote about the syndrome and later gave it their name) first saw this painting he declared that in all likelihood Eugenia had Prader Willi syndrome.   Some stories tell of her very bad temper and how she would be given into in order to avoid her strenuous wrath.  But we don't know what became of her, or how long she lived we just recognise her as an early icon of Prader-Willi syndrome.

Eugenia's portrait was painted 336 years ago.  It was to take another 277 years before our Doctor friends Prader, Willi, and Labhart were to distinguish a cluster of features that led to the naming of the syndrome.  This occurred in 1957 and the life expectancy was still very low with most children dying before the age of 20.  Why was this?  Well, it certainly had something to do with the knowledge we have today simply not being available. Literacy itself was a challenge and life expectancy in 1600s was only 35 if you were lucky and healthy.  Infant mortality was extremely high.  So Eugenia was lucky to even live as long as 6 years.

Was Eugenia the only one?
Well, no.  Today we know that the incidence rate of PWS is 1:12,000.  So one might expect that in a country like Spain where Eugenia was born and where today's population is just short of 47 million, that there might theoretically be a PWS population of 39,000.  Let's take it further; on earth live approximately 7 billion people.  Using the same incidence rate, that gives us, theoretically, 5.8 million  people with PWS.  Where do they all live?  Answer - in every country and everywhere.

How can we reach out to nearly 6 million people?  We do it country by country, PW Association by PW Association, family by family, person by person, one day at a time.

Many die before we can reach them.   Young Sultan from Kazakhstan was not able to access the medical treatment he needed.  There was no parent support group, very little medical knowledge and Sultan's condition gradually became worse.  Sadly, he died on February 2, 2011. Sultan was much loved by his family.

He was 18 years old.

His family had only just been able to contact IPWSO shortly before he died and through our medical consultants had been able to learn about the syndrome. 








This is Shelly.  She died when she was 21 years old,  Life for Shelly and her family was incredibly hard.  PWS was not understood until it was already too late.  There have been many cases like this, far too many.

I am showing you these photos because this is what life is like, still, for many families around our world.  I am showing you because in the last 60 years since PWS has been described, we have come a long long way, but we still have a long way to go before we can claim parity amongst nations.


IPWSO has been around for 25 years.  What have we done?

• Helped country after country claim the right to a better health care programme for PWS.
• Supported research and helped fight for the right to have GHT available for children around the world 
• Hosted international conferences (9 to date) where research has been encouraged and shared
• Collected together 103 countries to form our very large 'family' of support
• Translated information into over 15 different languages
• Supplied up-to-date information on scientific research papers, distributed quarterly
• Supported families, teachers, residential caregivers and provided information and training

By doing this, we can see the results we have achieved in the faces of those with PWS, their families, teachers and caregivers.  We know we are making a difference.



Where do we go to from here?   
 
We can see the benefit of all of our work around the world:   Happy, healthy young children, the greater majority of whom are able to access Growth Hormone treatment, attend school and be supported by their teachers, thanks to the information that their families provide, that their country PW Associations provide, that IPWSO provides. 

We encourage research by continuing to support our own IPWSO conferences,

We support growing PW Associations by sending internationally renowned speakers to meetings, seminars and first-time conferences where there has previously been none.

We continue to translate information

We continue to support families.

How does IPWSO operate?

Very simply!  We have two part-time paid workers, a Programme Director and a Communications Coordinator.  We have a Board of Directors and a Clinical & Scientific Advisory Board, we have a residential care-providers' Board (PPCB) and a Family Support Board (Famcare) all of these people work pro bono for us. 

We have delegates (a parent delegate, medical delegate and caregiver delegate) from each our member countries who make up the backbone of IPWSO.  We are in regular contact with our member countries and rely on them to help us spread information around the world.

How is IPWSO funded?
When IPWSO held its very first international conference, funding was granted from the World Health Organisation.  After that, and when it became obvious that there would be a demand for Growth Hormone treatment, Pfizer gave IPWSO an unrestricted grant for many years.  But nowadays funding is much harder to find.  We no longer receive grants from Pfizer and we rely simply on the subscriptions from our member countries and donations from many of our philanthropic friends to whom we are hugely indebted.

Frankly, finding funding is very difficult!
If you feel you could support us in any way at all, would you please either contact us directly, or donate via our iDonate page which will take donations both small and large!

What's our greatest wish?
To find ways of helping everyone, every family, every country where there is a need to support people with PWS live a fulfilled and happy life.  Forever.  We owe it to Eugenia not to let her down.

Is it too much to ask?