Dietary Management in PWS - the absurdity of it all!

By MH

I recently had the great pleasure of interviewing a group of parents about dietary management in PWS.  The interviews were recorded for a training film and were designed to find out the practical actions that parents take to manage food. 

The commonalities in both problems faced and management strategies applied were striking.  One speaker after another spoke of stress being caused by peas rolling off plates and the need to have replacement peas close at hand!  Surprisingly to me, grandmothers came in for particular and consistent criticism for giving inappropriate food to people with PWS. 

Many parents, I am delighted to say, were able to laugh at the absurdity of it all.

Of course, this all led to me reflect on what I (a parent of a son with PWS) do and, in particular, led me to think about some of the odd things that I could never have imagined when I first heard of PWS.

For example ...

My son refuses to use a knife.  I'm pretty sure it's because he knows that he is not allowed to put his knife in his mouth and is terrified at the prospect of some food sticking to his knife that he will then not be able to eat.  So, I either cut his food for him (which he doesn't like as he considers himself too old) or he laboriously attempts to cut it himself using the side of his fork.   

I increasingly find myself not finishing the food on my plate until my son has finished his own meal.  Why?  It's in case some mishap occurs to an item of food on his plate that I then need to have a immediate replacement for. Most of the time I'm not even conscious of doing this.

I "sneak" food.  When I find myself hiding in my utility room (which isn't visible from any other part of the house) eating a piece of fruit, I usually don't find anything odd about my behaviour.  But every now and again, I am reminded that this is all slightly RIDICULOUS.

I have concluded that I cannot give my son a full apple, not even a very small one.  Why?  Because he invariably eats the core and then becomes upset.  I know that he doesn't intend to eat the core, but worries so much that he may leave an uneaten piece of apple behind that inevitably he swallows everything and then starts to worry.

I regularly find myself having to call my son repeatedly when his meals are ready.    I assumed that my son's interest in food would rapidly propel him to the table for each and every meal, but no, this is not what happens.  Rather, if he is in the middle of another activity his desire to finish the activity is usually greater than his desire to come to the table.  As a result, at least every other day I find myself repeatedly calling him while the rest of the family sit waiting.  This was not what I expected PWS to look like.

I regularly lie about food.  In fact, lying is probably one of the strategies I employ most frequently in dealing with dietary management in PWS.  So, if my son asks (for the 3rd time!), if I checked the expiry date on his yoghurt, I will lie and claim that I did.  If he asks what I have been doing in the utility room, I will, without any guilt, invent a story that has nothing to do with food.

I felt privileged to have an opportunity to listen to other parents talking about how they manage food.  Hearing what they did made the absurdity of it all even more obvious to me.  It also made me feel proud to be part of a group of people who have found ways to cope with what is a supremely difficult task and, sometimes, even manage to laugh about it.

*** 

I always remember a mother of an adult son with PW being called out of the house by her neighbour just as the roast dinner was ready.  She hid the full roasting pan in her husband's wardrobe...  Editor

When IPWSO came to Ireland

by M.H.

Having a rare disability in a small country presents particular challenges.  There is likely to be little expertise within the country and convincing professionals to take an interest in a diagnosis that they will seldom encounter is a difficult task.  Having only a small numbers of people affected by a particular disability also renders many types of research unfeasible.  Tailoring services (when they exist at all!) to take into account the differing abilities and needs of those diagnosed presents practical challenges.

However, one can argue that there are also advantages to isolation as far as having a rare disability is concerned.  For a start, it may encourage families to educate themselves more and to become stronger advocates.  It may prompt families to rely more on each other and to work more closely for the benefit of those affected.  It may also encourage people to look beyond parochialism and the confines of their own country and to recognise that they can learn from around the world.

In small countries expertise in PWS is more likely to be concentrated in a small country into fewer centres. This allows for a channelling of the majority of people with PWS into one clinic, thereby creating increased knowledge of the PWS population than might be the case in countries with larger populations.  

Ireland, with a population of little over 4.5 million, is a small country.  Approximately 100 people have received a genetically-confirmed diagnosis of PWS in Ireland since testing began here in 1995.  However, it is believed that there could be up to 150 people who have PWS living in the Republic of Ireland and up to 60 in Northern Ireland. 

In September 2014 a shining example of learning from other countries occurred in Ireland when at the Prader-Willi Syndrome Association Ireland (PWSAI) annual conference, eightspeakers affiliated with IPWSO, all experts in their respective fields and all based outside Ireland, presented to Irish families alongside one speaker from within Ireland.

The presentations by IPWSO speakers served to reassure Irish families that many of the services and recommendations that were being offered in Ireland were indeed in accordance with international practise.  Their presence provided an opportunity for people to ask questions of experts who had dealt with very large groups of people with PWS over a long period.   It also highlighted gaps in services in Ireland and, we hope, provided an impetus for further advocacy by individual families and PWSAI.  The distribution of leaflets about research studies being conducted outside Ireland, but for which Irish participants were being sought, also offered an opportunity for Irish families to contribute to research.

Some parents reported that they felt hugely enriched by the informed content and depth of the talks that were given on the day.  For the first time ever, we witnessed parents of younger children feeling less scared than they would have been previously about adult services. The information provided by Hubert Soyer, Susanne Blichfeldt and Georgina Loughnan was particularly reassuring to them and one participant suggested promoting “A Lifespan Approach” for a country conference every four/five years.

 

Professor Susie Cassidy (IPWSO Chair)

It was a long day, but a very stimulating day!  PWSAI expressed its sincere gratitude to IPWSO and all the individual speakers.  We hope and believe that this event will leave a lasting positive legacy for people with PWS in Ireland. 

Not alone that, but we also hope that the IPWSO trip will lead to benefits for people with PWS around the world, as IPWSO  took the opportunity to hold a face-to-face board meeting over two days while in Ireland.  Ambitious plans were agreed and actions drawn up with a view to further advancing IPWSO's mission of improving the quality of life for all people around the world with Prader-Willi syndrome and their families.

IPWSO's stay in Ireland concluded with two members of IPWSO, Janalee Heinemann and Giorgio Fornasier, continuing to spread the word about PWS at the European Society of Paediatric Endocrinology Conference, which was also held in Dublin.  You can read about their experiences in our previous blog.

Some of our IPWSO Board members enjoying Irish hospitality

The Role of IPWSO at ESPE in Ireland, 2014

by Janalee Heinemann ~ IPWSO Vice-President

Although the European Society for Pediatric Endocrinology (ESPE) is three days of long hours and a lot of work preparing before the conference, it always revitalizes our spirit and enthusiasm. Giorgio Fornasier and I distributed memory sticks with extensive information on Prader-Willi syndrome including the medical alert booklet in 16 languages to 330 endocrinologists from around the world. They all were absolutely delighted to get so much information in such a small package. We had all of the articles displayed so they could see what information they were getting, and also gave some of the endocrinologists a hard copy of the Medical Alert booklet in their own language. There were eight posters presented on PWS at the conference. 

Giorgio Fornasier with doctors from China

We want to give a special thanks to Pfizer for their donation of an unrestricted educational grant that makes our involvement in these conferences possible.

Besides general education for physicians working with the syndrome, the ESPE meeting gives us an opportunity to learn a lot about what is going on in each country, and how to enhance our connections with that country. The following are some examples of touching stories that show the impact IPWSO has had on the world:

·       China is a good example – A country where there had been no diagnosis or education on the syndrome – to the first ESPE where we acquired a professional delegate -- followed up by free diagnosis -- to helping put together the first PWS conference in China in 2005 -- to now less than 10 years later where they are creating guidelines on the syndrome and we had 14 endocrinologist from China come to our booth for more information all stating they now have patients with the syndrome. Several asked if they could take a memory stick back to their colleague who could not attend.

·       Iran is another good example – Just a very few years ago, for the first time, we met a wonderful endocrinologists from Iran who attend ESPE and stopped by our booth to get information – she agreed to be our professional delegate -- followed up by free diagnosis – at this ESPE, we had 20 endocrinologists stop by our booth for information because they are treating patients with PWS.

·       Honduras touches your heart – At ESPE we met the endocrinologists who became the professional delegate for Honduras – followed up by free diagnosis – then two years ago Giorgio and Dr. Moris Angulo went to Honduras to meet with medical professionals and families   (our professional delegate said they knew of 12 families dealing with PWS, but they never succeeded in getting them together) – when Giorgio and Moris came to speak, 10 of the families attended – at this ESPE our professional delegate said they are starting an Association and will have a PWS clinic at their new hospital. Thanks to Giorgio, the Vatican radio keeps promoting awareness on the syndrome in this country.

·       Bulgaria also stopped to give praise – through the same type of evolution – a professional delegate through ESPE – free diagnosis – Giorgio and Pam Eisen going to Bulgaria to meet the professionals and families – to the professional delegate at this ESPE thanking Giorgio and saying now they have an Association. He said they have officially made Giorgio half Bulgarian!

·       United Arab emirates endocrinologists said we as parents are an inspiration – two female endocrinologists told of a few very tragic situations in their country including one mother who cried every time she came to see them because her 15-year-old child with PWS was so obese he had to be in a wheelchair and mom did not know how to handle him. They said they wished she could meet parents like us and know there was hope.

·       Then there are the countries in the early evolution – a wonderful physician from Saudi Arabia showed great interest in PWS and getting more connected – we met our first contact for Azerbaijan -- an endocrinologist from Uganda was very eager to get the information and get more connected… and the list goes on.

When you think about the fact that besides a wonderful board of PWS parents and professionals, and only two part-time parent employees who get very minimal salaries, it is amazing to realize that with very limited funding, how much IPWSO does and how many save lives are saved around the world!

Confabulation (Story-telling) in Prader-Willi Syndrome

I have an adult daughter who "confabulates".  In other words, she makes up stories that she firmly believes are true, come hell or high water.  If I didn't understand the word "confabulation", I would say that she is lying.  But, because she has PWS and telling stories, lying, fibbing, evading the truth, confabulation, or whatever you like to call it, is all part of the syndrome, I have come to recognise the difference between confabulation and everything else.  There seems to be a medical reason for confabulation - something malfunctioning in the brain - which can occur in so-called normal people after a head injury.  Interesting, because we know that much PW behaviour is the result of a dysfunctional hypothalamus in the brain.

One of the things about her particular confabulations (and there have been four instances, two with very serious consequences) is that I cannot 'break' her story.  She will stick to her guns, believing in her own 'truth' years after the event might have taken place.  And this is in spite of being able to prove that the instances did not happen the way she says they did.

This worries me.  She does not think of the consequences to her confabulation.  I think that she thinks if she sticks to the story, she will be safe and the consequences will all fall away.  Of course, they don't, and we who are left to pick up the pieces, including the police who are left to either lay charges or drop them,  don't seem to be able to understand what has happened or why.

I was relieved when FamCare (IPWSO's agency for the care of adult children in a home environment) answered another parent's enquiry about confabulation.  FamCare has a world-wide committee who puzzle over the conundrums of caring for and understanding an adult person with PWS, who voice their opinions, give examples from their own experience and piece together thoughts, ideas, concepts, that might help parents and caregivers understand the rather amazing world of PWS.

I have reproduced FamCare's article on confabulation (below) because it has helped me understand what might be going on in my daughter's head.  It won't stop her confabulation, but it will help me and her caregivers understand a little better where it is coming from in her weird and wonderful world.  It might help you too...

 A parent writes:

"The situation arose over the then-imminent wedding of a fellow participant in the exercise class for whom Gemma had developed a strong affection. She had listened to the evolving discussions in the class about this lady's plans to marry, from concept to detail and had over some months articulated to me the hope that she would be invited to the wedding. As it happened, no-one from the exercise class was invited. Plans firmed for a venue, menus were chosen, and some intense fitness work was happening so she could 'fit into her wedding dress and be looking great' for the big event.

 "We put Gemma's constant repetitive talk about the wedding progress and hopes for an invitation down to the frequently demonstrated perseveration associated with PWS, probably not understanding how intense was this particular wish. The bride-to-be also kindly took Gemma out for lunch one day, taking time off work to do so. More such catch-ups were promised, though none had occured. (and still havent).

"One afternoon after a morning exercise class, Gemma came to me saying that she had just remembered Jane, the exercise therapist, had spoken to her that morning reminding Gemma not to forget to RSVP to the bride about her invitations.

"Gemma clarified that the bride wanted to pick her up from work (at Secret Garden Nursery) one day the following week and take her out for dinner, leaving her partner at home to look after their daughter (an unusual event, apparently). Gemma also was invited to the wedding, and to travel down with the bride, partner and daughter on the Friday preceding the wedding, stay overnight with them, and they would bring her back home on the Sunday after the wedding, if that was all ok.

 "Gemma then sent an email to the bride accepting these kind invitations. 

"Later that night I received a phone call from the bride saying that she was a little concerned because the discussions/invitations had never happened. I also spoke to the receptionist, whom Gemma was certain had overheard the conversation and had supposedly reminded her not to forget to reply. The receptionist assured me that neither conversation had happened. Both the exercise therapist and bride
expressed their affection for Gemma, but were concerned for her well-being.

"Gemma was so certain the conversations had happened, clearly 'remembering' every word, expression and her excitement at what had been said. It was this 'clarity' that made it so hard for her to accept that it didn't happen and caused her to wonder if she was going mad. I am not sure the psychologist and (subsequently) psychiatrist that we visited were able explain to her satisfaction why it had happened, and to this day I think she still occasionally wonders if it did. She worries less about her sanity these days because there have been no similar episodes since, but it took a while."

Story telling is common for individuals with PWS, especially among higher functioning people. Not all story telling results in such complex stories as Gemma's. There are several variations of this behavior in PWS.

First, there is the simple lie. Typical children lie to escape punishment or to avoid doing something they don’t like doing or don’t want to do. Lying in PWS is often about food. For example, a young person with PWS might tell his teacher that his mother did not feed him breakfast, so that he will get another one at school. Also, people with PWS of all ages are likely to lie when confronted with theft of food or other items, even if they are caught in the act. The act of lying implies that a person is telling a falsehood; that is, they know that what they are saying is untrue.

Sometimes a person with PWS will make a statement that you know is false, but they believe that it is true at that point in time.  For example, a young woman steals a CD from a peer at the work program. When confronted by her mother, she says that she did not steal the CD because it was hers. The young woman argues with certainty that the CD is hers, until her mother finds the same CD in the young woman’s collection.


The second form of story telling is wishful thinking. This is the type of story that Gemma told. She wanted to be included in her friend’s wedding. Her story is a fantasy, but she believed that it was true. She did not have the capacity to test the reality of this story. She was not able to see the content from a perspective other than her own. She was emotionally invested in it, and she wanted it to be true.

The third form of story telling is confabulation.

Confabulation is defined by dictionaries as: the production of fabricated, distorted or misinterpreted memories about oneself or the world, without the conscious intention to deceive or the replacement of a gap in a person's memory by making-up stories that he or she believes to be true. In addition to faulty memory, there is another form of confabulation which is similar to the puzzle assembly abilities among individuals with PWS. In this form, pieces of information that the person has heard are put together into a story. The information can come from conversations, news releases or movies. Because the person is assembling this information into a story, they believe that it is true.

Confabulation is different from lying because the person is making up and telling stories that he or she genuinely believes to be true. In turn, the person believes that you, the listener, should also believe that what they are saying is true. The person tells the story in a clear and consistent manner, and the content of the story is believable in that it could actually have happened. Although the story itself is false, some of the information contained within the story is true, and this is what makes the story believable. The story is put together from facts, memories, or what the person has heard, read or seen. Confabulation can range from the subtle changing of a story, to a quite bizarre invention.
The details in these stories may be contradictory, but suggesting this to the story-teller can cause problems. The story-teller will object to your contradictions no matter how clearly you present them, and if an argument ensues, you will not win. Also, the story-teller can become very upset, anxious, and often becomes the ‘victim’ so that the listener ‘can no longer be trusted’; is no longer their friend; never believes them; is calling them a liar’ and so on.

Some of these stories can lead to more difficult situations, especially when the content of the story involves physical or sexual abuse or emergency calls. When the story-teller is so convinced they are telling the truth and they are believed, higher authority intervention occurs, involving the police or emergency medical personnel. For example: a boy took his parents cell phone and called police early one morning saying that he had awakened to find that everyone in his family had been killed by an intruder; he had escaped by hiding in the bathroom, but the intruder was still in the house. When his mother woke-up in the morning and opened the front door to pick up the paper, she was greeted by the police emergency team! Another example is a young man who claimed that he had been sexually molested. There was no evidence of abuse (and there may not be even in real cases of sexual abuse) and the timing of the event in the story was impossible, but the young man was so insistent and believable, the accused staff person lost his job anyway.

Sometimes, it is difficult to decide if a story is confabulation or delusion. Confabulations are usually
consistently and accurately repeated within a given context, but they might change from listener to
listener. Over time, the person may admit that the story was untrue or deny ever telling it. Delusions are fixed false beliefs related to psychosis; they do not change over time unless the underlying condition is treated. Examples include: a psychotic man who believed that he was being controlled by a she-devil who was pinching him repeatedly; a boy who believed that the characters in a TV show or video game were real, and he could converse and interact with them. Some stories have grandiose content such as a middle aged woman saying that she had three sets of triplets, or a young man who stated that he was a championship ballroom dancer. Grandiose delusions are associated with mood elevation and usually resolve when the mood disorder is appropriately treated with medication.
Other stories revolve around religious themes or follow the death of a loved one. Stories of seeing angels or having conversations with loved ones who have died are not considered to be pathological. Usually these stories bring comfort to the grieving person.

How do you investigate the “event” when your person with PWS tells you?
When confabulation indicates abuse, neglect or danger, it must be investigated. The first step is to make sure that he/she is safe. Second, if at all possible, you should take in all the information and react with neutral emotion. How these stories are managed is critical to prevent them from being told again; situations involving police and emergency medical staff are usually highly reinforcing to people with PWS.

Make note of the time frame of the story; there may be inconsistencies that indicate doubt. Supporting evidence is essential. Don’t lead the person on by asking questions or suggesting additional information.

For example, if the person says, “My Daddy touched me last night.” Ask, “How did he touch you?” or “Where did he touch you?” Don’t ask, “Did he touch you between the legs?” No matter how outrageous the story is, always consider the possibility that the person is telling the truth!
Pay attention to the details of the story and write them down.

Have someone else ask the person with PWS how their day is going. If he/she has had a traumatic
event, they are more likely to tell the same story the second time to a different person.

Most people who have had a traumatic event will show emotional distress; the story-teller may
appear to be detached.

Alert the parent or guardian about the situation.

Proceed with an evaluation by police or medical personnel, if indicated.

Why do people with PWS make up stories?
The precise reason why people with PWS tell stories has not been scientifically investigated, but clinicians and parents alike, have some theories about why it occurs. Some scientists believe that story telling is a developmental phenomena, and people with PWS remain more chlid-like in their thinking and behavior.

Others believe that the short term memory problems typical of people with PWS cause them to make up details and interferes with their ability to test the reality of those details.

One aspect of the way people with PWS think (a cognitive trait) causes them to see things only from their own point of view. They can accept another person’s viewpoint, but not at the same time that they are expressing their point of view, especially if they are emotional invested in the story. At a later date, they might admit that the story they told is untrue or say they never told it. But when they are telling a story, they really do believe that it is true. That's why they are so convincing and it is so difficult for them to admit that the story is made-up. Another cognitive trait is their ability to take little pieces of data and create a whole picture - like putting a puzzle together. They can overhear a conversation, get tiny bits of information and make quite a convincing story. The story is most effective if there is an audience. Usually there is a lot of attention directed toward the content of the story and the person who tells it. Attention encourages the story-telling because of the interest it is given, even though it is false.

Sometimes the person with PWS has something to gain from telling the story. A person with low self
esteem might tell a story to sound important. Or, a person with PWS might tell a story to access food or money or just attention. Sometimes stories cover up responsibility or guilt, like the man who was charged for breaking and entering a service station and stealing chocolate. He told police that the window was left open, and he thought someone might be inside committing a burglary, so he climbed in to investigate. That’s when he saw the chocolate and took it.

What is the best way to help the person overcome their tendency to ‘spin’ the truth?
Janice Forster MD, (Developmental Neuropsychiatrist of the Pittsburgh Partnership and advisor to
FAMCARE and IPWSO) suggests the following strategies:
First, in order to understand the nature of the problem, ask these questions:

• Is this pattern of behaviour typical of the person with PWS?
• Is the person high functioning?
• Does the person have a lot of freedom in his/her life?
• Has the person been diagnosed with bipolar disorder or is he/she receiving any medications that might cause grandiosity or mood activation?
• Has the person been diagnosed with a psychotic disorder?
• Are the parents the legal guardians, or does the person consent for him/herself?

Managing this behaviour is challenging. Here are some helpful tips:
1. Reduce his/her degree of freedom. He/she may have access to too many people and too much
information. This may enable him/her in a negative way. If the information for the stories is coming from the computer, leisure time can be limited or supervised.

2. Take away the audience. This means that you have to alert every one that he/she comes in contact
with, that he/she is a storyteller. They should listen but always react in a neutral way. Although the truth should be doubted, there is always the possibility that a story could be real. Then, try to redirect the person to a safe topic that everyone knows is true, like "Tell me about your sports card collection" or "Tell me about the first time that you went to a football game?" Or, if in a day program or school environment, teach staff an intervention "That's an interesting story, but I'll have to check with your parent," or, "It must make you feel important to think that you're related to a sports star." It's not helpful to ignore, and it's not helpful to attempt to dissuade. Helping him or her to save face is important.

3. Turn the content of the story into an asset. If he wants to be a sports star, or she wants to be a film
star, then they need to live the life-style, including weight loss and exercise. (Special Olympics can be a wonderful way to provide an appropriate level of competition, together with appropriate exercise.)

4. Use social stories. Social stories are a helpful tool for teaching morality like why it's a good thing to always tell the truth and why there are consequences for lying. Most confabulators are creative people, so maybe they can write some social stories with you.

5. Alert the police. Be proactive with the police. Tell them that story telling is part of your child's
repertoire. Give them your telephone number so they can call you if they become involved. If your son or daughter already has experienced the police, I would strongly advise you to obtain guardianship, or advocate for them. As intelligent as they may appear, they will not be able to advocate for themselves, although the court may find them competent.

6. Consider therapy. If your person with PWS is high functioning, he/she may be dealing with feelings of inadequacy due to having PWS, so their stories are all about being someone else who doesn't have the syndrome.

7. Adjust medications if they are contributing to the situation.

8. Punishment never works. When a person with PWS truly believes their thoughts are based on reality we must remember to be aware of their sensitivity to “blame.” Overreacting to their stories, ridiculing their confabulation or blaming them for “causing trouble” will not help the situation, no matter how embarrassing or far reaching the implications of the story have become.
Remaining calm and supportive while providing the person with PWS the security they need to express his/her thoughts, then gently redirecting the conversation allows them to be heard without enhancement.