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