The Chilean Story

The story of how we became the Prader Willi Syndrome National Association in Chile

Chile is the longest country in the world with 4.329 kms from north to south (without considering Antartica), and at the same time one of the narrowest, with an average of 180 kms wide. Its population (2016) is 18.214.009 with 212.368 babies born this year.  If we consider that the PWS prevalence is 1 every 15.000, we could presume there should be about 1.214.000 people with PWS in our country.

Even though at the moment we are far behind in our capacity to identify the families with individuals with PWS, we have been constantly working to improve this condition since we started to be a formal association. This is our story from the very beginning.

In 1991 there appeared the first article about a girl with PWS in a local  newspaper. This was the first move to find other families with a child with PWS, and soon after, many other families joined us. Some years later a mother living in the north was interviewed in a TV program, so more families wanted to learn about the syndrome and get in contact, thus giving birth to the first parents organization.

In 1999 a group of ten families  created the “Asociación Nacional del Síndrome de Prader Willi” base in Santiago, and soon we became members of IPWSO.

We started this association with the aim of identifying as many families having a child with PWS as possible,  so to improve their quality of life, provide support to the families, and also to inform and increase awareness about the syndrome. At that time, efforts were mainly made in Santiago.

Dr. Fanny Cortés was very significant in the achievement of becoming a formal association

and she actively supported the families and the recently initiated organization, and she has continued up to now being of invaluable help.

Within the next four years we had 60 families registered, and in 2002 we organized together with IPWSO the first Prader Willi Syndrome Latin American Conference in Chile;  a tremendous opportunity to have specialized professionals giving talks and then to communicate information along the country. The presence of Giorgio Fornasier was very inspiring and meaningful to strengthen our will to continue working hard. How to forget his marvellous song to close the assembly?

In the following years we persisted in supporting families, giving advice on different matters for a better management. We contacted health authorities to try to include PWS as a significant disability,  and to have medical reimbursement of growth hormone treatments, unfortunately for the moment, without success.

At the same time we started developing some technological resources. We initiated a database and created the website.  The social networks have helped families to be in contact with the association, thus addressing their questions,  and requesting information.

As National Association, we have been very consistent in complying with general assemblies twice a year, publishing formal announcements in a local  newspaper in due time and keeping up-to-date accounting  and legal documents. This enables us to receive donations as a charitable foundation, a condition which is most important to keep active, as it has been a key procedure to obtain funds to help our families by means of translating and printing materials, organizing workshops and conferences. It is worthwhile mentioning two seminars on behavioural management with live streaming and the translation of a DVD for school guidelines.

This year we have faced a new challenge, that is to form a “country network” by dividing

our territory in three zones: The North Zone with base in Antofagasta, the Central Zone in Santiago and the South Zone with base in Temuco. So far and in addition to Santiago, we have only initiated the South Zone with Carlos Molinet, our former President,  as Coordinator.  In October, we had a two-day meeting with ten families from different cities in the South and  they were asked to fill in a survey. We also reviewed with them information regarding main aspects of PWS and management of behaviour and food security. We answered questions and shared experiences. We nominated parent delegates for each city and provided them with a folder with printed materials and a pen-drive full of helpful information when visiting professionals caring for their own children, as well as hospitals, medical staff, regular schools and teachers, special education schools, and health centers for treatments. They were also requested to report new families to the Coordinator. It was so cheerful to see so many grateful and happy faces at the end of the meeting, as they feel they are not alone any more on this journey and that now they stand more confident as part of a group of people where there is learning, support and love.

We will soon reproduce this scheme with the North Zone, and as soon as we gather families from different cities we will have the formal meeting to nominate parent delegates.

Hopefully by the end of next year we will have a “country network” fully active and, therefore, we expect to increase the number of families registered in our National Association database and will be able to help and support them  We also look forward to having most professionals all along our country, registered and well aware of the importance of an early diagnosis and treatment of individuals with PWS .

Santiago de Chile, November 17, 2016

Amalia Balart

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!