There's nothing like it

It has been a while since I posted anything about my daughter.  She has just celebrated her 35th birthday.  She was diagnosed when she was 2 yrs, so that's 33 years of my life dedicated to, dictated by, and marked out by PWS.  I have survived, her sisters have survived, our marriage has survived, and she has survived albeit with a few brushes with the law including a one-year remand in a lock-up facility which is a deviation from being in prison for those with mental disabilities.  It's a whole other story.  We've survived a lot, as I know so many other families have also.

I look back on those 35 years and often wonder how we did it.  I think it would have been almost impossible without the help and support of various agencies and Salisbury School (a special residential school where she went for 4 years), not to mention the residential care she now receives.  I know that many families have not had this privilege and many more face basic educational rights as they advocate year after year for their child's rights.

My daughter did not receive growth hormone treatment as it wasn't available here at the time she needed it most.  However, here in New Zealand our PWS Association fought the medical agency that controlled all drugs and their subsidies, and petitioned the government and didn't stop until we gained recognition for PWS.  Being a small country, it was easier for us to trace nearly all families and visit all areas to provide help and support, knowledge and training.  It was not easy, but I look back and think we were lucky to have the energy and determination as a parent group to do this and get results.

Meanwhile, at the age of 35 my daughter has gained confidence, learned life-skills and I can see huge improvements and accomplishments achieved.  She is still, of course, naieve and child-like in many respects as she has just demonstrated when our large family decided that a Secret Santa might be the way to go this Christmas.  She sent a text to both her older sisters, "I would still like presents as I am a special adult.  I'm kind of a kid in a adult's body.  I would love a voucher for some books/I need a cotton duvet cover, queen size, at least 500 threads."  You might say 'naieve', you might say, "pretty much got that covered!"

She, like so many of our kids with PW, is warm-hearted and generous.  To a fault.  Her nieces and nephew are always getting presents from her - and she is a very skillful present-shopper.  I rely on her to pick the best presents for the grandchildren as she just knows what's in and what's out.  On the other hand, she phoned me recently to tell me about a man she'd 'met on the internet' who needed help.  "He's been to social services and they won't help.  He's been kicked out of his home.  He's hungry and needs food.  I've got food that I don't need (!?) and I've said I will meet him and give it to him."  I'm pleased that she phoned me first.  With some good explanations as to why this might not be such a great idea, she has agreed not to meet him.  However, she did suggest she gave the food to the police and they could go and find him...  Probably not such a great idea either, I countered.

All her life she has loved animals and dolls.  As we've always had animals from donkeys to chickens, I'm not all that surprised.  I'm not unduly surprised by the dolls, either because many girls and women with PWS have a grand collection of dolls.  But this year it has been a challenge because she wants a 'reborn' doll (no, I didn't know either, but they are dolls that are the same size and weight as newborns and are so realistic it's unnerving).  These dolls - the best ones - are hand-assembled, painted, with real hair implants... you get the picture.  They also cost nearly $1,000 in our money.  Her heart was set on owning one, "it's the closest I'll ever get to having my own baby".

After trying to dissuade her, I gave up and decided that if she could save up until she had enough money, she could have one.  I thought this would teach her the benefits of saving, plus patience.  All went well until the woman she was texting about her reborn asked for a deposit.  That was not part of the plan, I said, we agreed to buy one when you had all the money.  All hell broke loose.  There was an all-day and most-of-the-night tantrum.  The only way through this was to write down the cost, time it would take to pay off, likelihood of disappointment, the cost of custom's tax, insurance, etc etc.  Finally she settled on a less expensive doll that she could purchase outright - but wait!  She had enough money by now to buy two... so, as I write this, we await the arrival of two new-borns into the family.  I only hope they come up to expectations.

There are so many different things about PWS - and I'm not talking the scientific genetic stuff - I'm talking the human differences, the unexpected behaviours - good and bad - the insights you get into an unfiltered mind, and the learnings about human nature.  It's not what any of us asked for or expected; it's a struggle, at times an absolute torment and misery.  You are kept on the alert, seldom fully relax, trying to be one step ahead and skating on ice at the same time.  There is constant negotiating, phone calls, bargaining;  I've never known anything like it... for 35 years.  But, when the sun shines and the birds sing and all is quiet, you can sometimes imagine the world to be an ok place...

Blind Rage

Contributed by Dr Janice Forster

Dr Janice Forster, Pittsburgh Partnership

PWS is known for hyperphagia and temper outbursts.  Researchers have discovered that temper tantrums precede the typical food related behaviors in early childhood.  For all children, including those who have PWS,  tantrums occur when the reward centers of the brain begin to mature.  The reward center enables all children to learn from experience and to form expectations about things that happen in their world.  When a child wants something and does not get it, a tantrum occurs.  Or, when something occurs that is different from what the child is expecting, a tantrum occurs.  Among children who have PWS, this tantrum behavior differs from typical children in 2 important ways:

• It is more intense
• The biochemical braking system to stop the tantrum is broken *

Each tantrum is unique to the child, but in PWS it is usually very quick in onset and may appear to occur out of the blue.  If one looks carefully at the antecedents of the situation from the perspective of the child, often the etiology can be determined.  Once a tantrum begins, there is nothing that can be done to stop it, other than to keep everyone and everything in the environment safe.  The tantrum will run its course.  After the tantrum is over, some children will be exhausted and require a nap.  Other children will get back on track fairly quickly and resume their daily activities; they may or may not acknowledge  their behavior. 

The cortex of the brain not only governs reward, but it is responsible for thinking and reasoning behavior.  Another part of the brain is involved in behaviors such as tantrums and shut downs.  The amygdala directs brain mechanisms associated with survival (fight, flight or freeze); it is responsible for emotional expression, aggression, and impulsivity.  For this reason, the cortex has been referred to as the ‘baby sitter’ of the amygdala.  Although neural connections to the reward center of the cortex begin around age 2, the thinking and reasoning behavior is slower to mature in typical children and takes even longer to develop in children with PWS.  Using the analogy of a computer, when a child has a full blown tantrum, their thinking and reasoning ability in the cortex goes “off-line”.  This is why children with PWS appear to be in a ‘blind rage” during the tantrum; they are literally behaving in survival mode, acting without thinking.  In PWS it takes a while for the brain to “reboot.”  After they recover, they may act as if nothing has happened (brain reboot), and they may or may not remember what has occurred. 

A tantrum is a learning experience for the caregiver.  The keys to successful behavioral management are    determining what the trigger is, redesigning the daily plan to avoid it, and developing coping strategies to deal more effectively with it. 

---

[1] GABA (gamma-aminobutyric acid) is the major inhibitory neurotransmitter in the brain; it regulates muscle tone and provides the braking mechanism for behavior, allowing a person to “stop and think” before acting.  GABA receptors are reduced in PWS, resulting in decreased GABA action in the brain that may also contribute to epilepsy, anxiety disorders and depression. 

What Price a Syndrome

 May is PWS Awareness Month around the world, and recently I found myself looking back over the last 34 and mentally totting up the cost of having a child born with a syndrome.  Not the financial cost: the emotional cost, and the cost of awareness.  In this particular case, our youngest daughter was born with Prader-Willi Syndrome 34 years ago when no one really knew anything about it, much less be able to tell me the cost it would incur to our family.  Had I known even then, I wouldn’t have been able to do much anyhow.  In 1984 not much had changed in the scientific understanding since PWS was first identified in 1956.

I was brought up in the Baby-boomer years, the tail-end of a time when doctors were still Gods, when politicians were benign, rather helpful people who talked a lot in Parliament and ate and drank a lot at the local watering hole.  There was a general acceptance that we had the best health system in the world and were leaders in looking after the poor and needy.  Most of us grew up still thinking that.

As first children born to parents who had endured the war years, we wanted for nothing.  Visits from Plunket nurses, school milk, free education.  Growing up in the 50s, I remember long summer holidays, listening to favourite radio programmes, playing in the streets and the parks til dusk, walking to and from school, safe in the knowledge that nothing and no one would harm us.  It was a formative childhood about to take a huge tumble into adulthood.

Along came the Muldoon years – the Muldoon* family lived just down the street from us and my father would tip his hat to Muldoon (“Mister  Muldoon, from you!”) if ever he saw the Government car coming down the road.  He approved of women in Parliament, only if they knew their place, so he heartily  disapproved of Marilyn Waring**.  Approval of the Vietnam War was a priority in our household and woe betide any teenage daughter who dared venture a contrary opinion.  Women’s Lib mystified him.  What was the point? My father was the head of the household and such was the hierarchical system that what he said, went.  Whoever was at the top of whatever system, therefore, must be right, so years later after my father had died and when my daughter was born with Prader-Willi Syndrome, my expectation was that whoever was in charge would know all the answers.

They didn’t.  Tests in hospital, mutterings from groups of doctors on their rounds, hastily scrawled notes hidden from my view, and no answers.  Apart from a nurse whose arrogance led her to speculate that my baby probably had brain damage. My world was shattered.  Not just the emotional collapse of having a child with an unidentified syndrome, but my faith in the hierarchical system that my father led me to believe was infallible, was shattered.

Thus began the long haul to adulthood.  Three years of listening to doctors make vague assumptions about my child’s condition and coming up with nothing substantial finally led me to an article in an Australian Woman’s Weekly magazine.  There was a picture of a young man with Prader-Willi Syndrome and a photo of him as a baby.  It was a very real Damascus experience, and, armed with the article, I went to see the Professor of Paediatrics at Wellington Hospital.  He diagnosed me as an “over-anxious mother” and sent a letter to my own GP stating as much.  By this time, I knew I was right and I knew with my whole being that this was the answer.  Smashing at the doors of hierarchy I demanded a second opinion.  My three year old daughter was duly considered by another specialist who gave her blocks to play with, crayons to draw with, and concluded that she was “delayed”.  Coincidentally, as she ushered me to the door, she pointed to a young girl about 8 years old and said, “now, that girl has Prader-Willi syndrome, you don’t think your daughter has anything like that do you?” 

Why on earth couldn’t she see what I could see?  For me, it was like looking down a telescope of years into the future.  It was the start of a long search, and, bearing in mind this was pre-Google days when everything had to go by post, it was a lengthy process.  Everyone who came in contact with my daughter – speech therapists, physiotherapists, doctors, specialists – were all taken to task by her over-anxious mother.  The breakthrough came when I burst into tears, banged the table and yelled my frustration to an occupational therapist that no one ever listened, that she looked quietly at me and said, “I have a child with Down’s Syndrome, I do understand.  I will find an address in America of the PW Association for you.”  And she did.  I am still in her debt.

Little by little I began to piece things together.  It required patience and an understanding of things medical and scientific that were way beyond me.  I read everything with a medical dictionary beside me.  I made lists.  I compared characteristics.  I ended up at the IHC (major service provider), in tears again, asking why no one knew what Prader-Willi Syndrome was, for by now I was very certain this was the diagnosis.  I was listened to and given, not sympathy, but tools to work with: names of parents (this was pre the Privacy Act, when contacts were easier to come by), a small amount of funding to set up a support group, and more importantly, some confidence to work with.  Their support over the years has been generous, willing, and very enabling. 

That was 29 years ago and the beginning of what now is the New Zealand Prader-Willi Syndrome Association; a very pro-active, knowledgeable, and keenly aware group of parents who are prepared to fight for the rights of their children.  They now know far more than I ever did, the diagnosis of their babies is made not through the pages of a weekly magazine, but quickly and accurately through the microscopic thread of DNA.  They do not have to search the world for information, support, and a handbook of What To Do; it has all been done by others before them.  The increase of scientific knowledge has been extremely rapid: the discovery of a small deletion on 15^th chromosome which is the cause of PWS and is also linked to obesity (now giving scientists and drug companies a huge incentive to find a ‘cure’); the discovery that growth hormone treatment will vastly improve the physical ability and body composition of a child; a far greater tolerance of people with disabilities, and a greater understanding of what is needed to make their lives rewarding and fulfilling.

At what cost?  I look back over 34 years at the early struggle to have my daughter even diagnosed, let alone find support; so far we've managed to get through every Christmas,  Easter, birthdays -  times when family and friends come together to eat, drink, be merry, relax and enjoy the good times - but for us, and other families where there's a child with PWS, it’s a time of watchfulness, of making sure cupboards, refrigerators, pantries, are locked and secured.  Of locking the drinks cabinet, of hiding wallets, purses, and loose change.  Of trying to persuade people not to give chocolates, cakes, and sweets as gifts.  It’s a time of stress for all. 

The cost to any family is enormous.  The sacrifices, sibling embarrassment, heartache, despair and all the "if only's".  Then there’s all the stress, strife, arguments and self-pity.  That’s the price, and you pay for it with guilt, tears, and love.  We owe a great deal to those who went before us, and we are ready to help and support those who come after us.  It's a different road we take, but it is one of much more awareness these days.

 The month of May is PWS Awareness Month

 

 *Rob Muldoon, Prime Minister of New Zealand 1975 to 1984

** Youngest female MP and staunch Women's Liberation advocate

Holiday Hiccups

Food for thought?

 Although everyone loves holidays, this time of the year (whether in southern summer or northern winter) can often be more stressful than most.  It seems that we dedicate days to eating! And with family gatherings, and more meals, and lots of laughter and fun, it's often the person with PWS who finds it most difficult; too much temptation, food left out, people not watching.  The main characteristics of PWS are brought sharply into focus - the desire to eat as much as possible and whenever possible.  We all know the pitfalls...

The most worrisome outcome of overeating, or bingeing, is that of gastropaersis which may go unnoticed if your child does not complain of pain, or is usually trim because of Growth Hormone treatment.  Please be aware of the symptoms and characteristics of this dangerous issue. 

The very sad account of a 24-year-old man with PWS who presented with "abdominal pain, nausea, and emesis 3 days after ingesting 8 pounds of raisins and 48 ounces of peanut butter during a food binge"  -  luckily after some serious surgery, he survived.  Ref

I always remember one mother who had a t-shirt made up for her little boy which said "If you feed me, my mother will slap you!"  I know - not necessarily politically correct, but she was at her wits end and it worked!

If you will be with relatives, carefully plan ahead of time and communicate the importance of food control with all involved. Make sure all attending know the “rules of engagement” and agree to cooperate.  

We  have some good holiday hints written by Janalee Heinemann and our  Guidelines which may help you with practical advice including:

• See that someone at all times is clearly in charge of your child with PWS.  Clearly define when you are “changing guards”.  As Dr Linda Gourash states, “When everyone is in charge – no one is in charge.” 

• If your child is old enough, rehearse the “rules” before the special  day and come to a mutual agreement on what your child will be allowed to eat.  You can barter, i.e. “Do you want a little extra turkey and dressing, or do you want a piece of pie as your special treat?”

• It is okay to request that Grandma and other relatives tuck away tempting items during your visit and to discreetly check with you prior to offering your child a treat.  (Don’t check with the child!)

• Make sure you know what everyone is bringing, so there are no surprises on what the choices will be. 

• Grandpa and Grandma, or aunt and uncle may want to bring a special gift toy to compensate for the food they have to deny your child. 

• Go over with the hostess or your family on how to contain the accessibility of food.  See to it that where your child is sitting there will not be a lot of bowls of food, rolls, or condiments nearby (Many people do not consider how many calories our children can consume with the extras – sugar, butter, sauces, gravies, etc.) 

• After eating, when people are just visiting, see to it that if the food cannot all be put away, someone is responsible for guarding it. 

• Your child must have the security of knowing you will be strong in your commitment to keep them protected from food – in spite of themselves.  Giving in, even once, means several battles ahead.  I know you get tired of hearing it, but consistency is the key. 

All worries aside, we hope you enjoy the break as much as possible and can look forward to 2018 with confidence!  We will be here to support you all as much as we can.  

Behaviour in PWS - where? What? Why?

by Linda Thornton

In .52 of a second, Google furnished me with a choice of 158,000 articles on behaviour in Prader-Willi syndrome.  It is overwhelming and if I were a new parent, I would not know where to start.  In fact, I probably would yell at Google, close the page and burst into tears.  There are scholarly articles, there are profiles of behaviours, advice on managing behaviours of pre-schoolers, toddlers, pre-teens, teens, adult and so on.  After 20 pages of Google and in amongst all the PWS articles,  suddenly I find a page on growing marijuana and by this stage, I’m thinking “what a good idea!”

Personally, I think that finding a PWS Association either online or in reality, is the best possible thing to do.  To be able to talk to someone face to face, or on the phone, or even just an email, will result in a calmer, easier-to-understand answer than trying to assimilate information from 158,000 different articles.  That’s just frightening.

The best possible thing you can learn about behaviour and PWS is that children and adults are all different.  They are people first, and just happen to have Prader-Willi syndrome.  Knowing your child, what motivates them, what they love and who they love, what scares them, what makes them anxious, and so on, is the first step towards understanding behaviour.  When you stop and think about it, everything we do, from getting up in the morning to going to bed at night, invokes behaviour of some kind or another.  Our behaviour sends messages to others in many different ways – no matter whether we have a disability or not.  It’s how we interact.  

I’ve watched the behaviour of my 32-year-old over the years and can read her like a book.  But I can also do this with my other children as well, the only difference is that my 32-year-old has more pages in her book.  That’s life.  Whether her behaviour is challenging, whether she’s testing whatever system that’s been put in place, or whether it's her every-day behaviour, for me the most interesting thing is how she interacts with other people.  I used to worry that she would ‘snap’ if someone said or did the wrong thing – and by this I mean a stranger, not someone she is familiar with because the more familiar she is with someone, the more likely she is to let loose! 

The other day, for example, I listened to her on the phone to her bank.  She was polite, very clear in her request to transfer funds and knew exactly what she was talking about.  She quickly and efficiently changed one automatic payment into another.  No problem at all.

I’ve heard her ring and make a doctor’s appointment; phone the library and request a particular book; she manages a visit to the Vet with her cat perfectly well and asks all the right questions and makes sure she knows the answers.  In an emergency (her concept of one) she will get herself down to the Emergency Department at the local hospital (with a staff person) and wait until she can be seen.  She knows when she is ill (see previous blog on gastroenteritis).  By being able to do these things she avoids becoming anxious, frustrated, and angry.  It has become so clear to me over the years that by first teaching her about making good choices, she is able to do so much more for herself.

Sometimes, in the middle of a catastrophic outburst I tend to forget everything I’ve just said above and feel as though I’m clinging to the life-raft for all I’m worth.  Just getting through to the other side of the meltdown is all I’m hoping for at this stage!  I hate it when these happen because I know how terrible it is both for her, and for the person she is focussed on.

I began to wonder what sort of chemical imbalance might be in place when these meltdowns got under way.  So I asked Tony Holland about this and about his research with vagus nerve stimulation.  He responded,

"Our work on vagus nerve stimulation suggested that people with PWS essentially have a a low threshold for such outbursts and also impaired emotional control - in other words people with PWS are easily triggered and once it starts such an outburst more easily builds up and leads to loss of control when compared to people without PWS. This appears to be improved by vagus nerve stimulation. The vagus nerve is part of the autonomic nervous system of the body that manages our response to threat - what we think vagus nerve stimulation is doing is normalising that response. The other rather different issue we are beginning to look at are two chemical (neurotransmitter) systems in the brain - GABA and glutamate - the former is inhibitory and the latter, excitatory. It may be that an imbalance of these two systems is important - a new study we are starting uses brain imaging to explore this hypothesis"

So, although I know that there is much behavioural research going on with Oxytocin* (Google: 1.10 seconds, 115,000 articles) and the Vagus nerve stimulation** (Google:  .72 of a second, 60,600 articles), I can’t help but think that deep down it pays to really understand your child and what makes them tick.  You may be surprised.

 (If you would like help with behaviour issues and would like to talk to our specialists about this, please email us)

*Maithé Tauber Oxytocin research

**Tony Holland Vagus Nerve Stimulation