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...

My Double Life!

MY DOUBLE LIFE AS A SWEDE/ENGLISHMAN WITH PRADER-WILLI SYNDROME

(Anders' mother, Jean Phillips Martinsson, was IPWSO's first President from 1991 to 1998 and the founder of IPWSO - ed.)

My name is Paul Anders Martinsson and I live in Sweden. I'm now 48 yrs. old and have always loved my double life!

My father was Swedish and my mother is English. I wasn't diagnosed with PWS until I was 14 years old. It was then I decided that I wanted to learn English and follow in my mother's footsteps by going to boarding school in the UK. On arrival I spoke no English but, after 2 yrs there, I was completely fluent – contrary to advice given to us by the Swedish specialists, who insisted that my parents should only speak the one language to me – not both. 

I shall never forget those 2 years, especially when I joined the ATC Air Training Squadron and was awarded a Flying Certificate!

The only thing I missed during those 2 yrs in the UK were my judo classes.  I started learning when I was 8 yrs. old.  Today I still have Solveig, the same teacher, masses of gold, silver and bronze medals and a brown belt.

Since I was 22 yrs. old, I've been living in a group-home with six others who have PWS. We all love it and have our own 45 sq.m. apartments, with balconies and our own garden plots.  We go to work every day, and have been living together for 26 yrs. 

Beside these 6 friends, I have many others, without PWS, whom I've known since I was born. I still have regular contact with them. We go to the cinema, concerts, musicals, and work on computers, smartphones and tablets together. They always come to my annual birthday party, where I invite them all for fruit salad, light ice-cream and alcohol-free cider. I also have a wonderful Ethiopian girl-friend!

Photo:   Anders receiving his award for participating in IPWSO's 6th conference in Romania, with one of his own paintings on the wall depicting his holiday in Burma with the Orang-utans. 

The forgotten face of PWS?

May is PWS Awareness month and every year we bring the world's attention to this syndrome. 

Our syndrome.  

We write positive and uplifting things about PWS; we write of successes and great support.  And all this is fantastic - after all, 40 years ago very little was known about PWS and management skills were basic to say the least; residential options were minimal and diagnosis at a young age was still done at a clinical level according to physical characteristics. If you were lucky.

So, I feel heartened to see the young faces of today, to know that GHT is well-known treatment for PWS and I am happy when I see the positiveness of specialists and professionals who treat PW with an awareness that was very limited in days gone by.

But.  

Today I saw a man with PWS whom I've known for many years.  He'd be in his late 30s. His family chose to place him in 'supported living' and it was what he wanted if he wasn't allowed to live on his own. Supported living equates to a few hours a week when someone comes in to help him. Otherwise, he's on his own.  He looked terrible. His skin was yellow, he was barefoot (it's winter here), he had severe conjunctivitis in one eye. He is way, way overweight and can barely shuffle along with a walking stick. I asked him how he was. He said "I'm ok after Mum's funeral on Monday". I had known his mother and I did not know she had died. I gave him a hug.  My thoughts were - is this the real face, the forgotten face of PWS?

I thought about all the older generation who did not have the benefit of the early diagnosis that children have today, and how the parents struggled for recognition of this challenging syndrome.  I thought about all tears we have shed over the years.  At that moment I wanted recognition for the rivers we have cried: tears of frustration, sadness, despair, madness, self-pity, and yes happiness.  

So these words are for you - parents, sisters, brothers, grandparents - we are in this together; we share a rare life but for all the pain, it is still a beautiful life.  Take care of yourselves.

With love

Sexuality in PWS

I often hear the question about whether women with PWS can have babies.  The answer is, yes, they can, but it is not common.  Babies to women with PWS have been documented in Scandinavia, USA, and New Zealand.

IPWSO's Clinical & Scientific Advisory Board has written an article on sexuality and fertility in PWS which you can see on our website, which has the technical explanation, but it is important to understand how sexuality might be interpreted by the person with PWS.

Mother (PWS) and baby (AS)

The CSAB article says,

"Romantic relationships may be perceived in many different ways by persons with PWS, and it is important to discern fantasy from a more actionable situation. Some may claim to be engaged to be married and indicate that a marriage date has been set, even though they have minimal contact with or personal knowledge about the identified person. Others may have a real girlfriend or boyfriend and describe a dating relationship of variable intensity; they may be content to display affection through hand holding and kissing without actual sexual contact. A few may enter into what can be described as a serious relationship that might include sexual intercourse.

"First, it is important to evaluate their level of understanding of sexual function and “where babies come from.” Second, their understanding of the rules and responsibilities, boundaries, and personal safety around sexual behaviour must be explored. Finally, their knowledge of the risks of sexually transmitted diseases must be assessed. "

Equally important is the need to ascertain whether sex is being exchanged for food or whether the person with PWS is being taken advantage of sexually. If this is discovered, a referral to the proper agency for investigation is required.  Finally, individuals with PWS often display interpersonal conflict in their relationships. They may have difficulty sharing, meeting the expectations of others, or making empathic connections. Their level of emotional maturity may not be conducive to the level of judgment, commitment, and intimacy necessary in a marriage, even  with the help of parents or guardians.

Many young adult men and women with PWS will express a desire to have a baby. In most cases, this idea comes from an earlier psychological stage of the family romance, such as playing with dolls. This wish can be acknowledged, discussed, and addressed through counselling. It is often managed through substitution, such as caring for a pet, being involved in the lives of nieces and nephews, being directly supervised in activities with small children, or accepting that not all adults in society have children. When the desire for a baby is complicated by actual fertility, it may be difficult for the woman with PWS to accept the use of contraceptives. In these cases, anticipatory guidance requires the involvement of the parent or guardian. Family, religious and social values should play a major part in these discussions. At least one abortion has occurred.

Articles and narratives of the five pregnancies in women with PWS suggest that the gestations and deliveries were uncomplicated. Three babies were delivered by planned caesarean sections. All of the mothers were unable to breast feed and bond with the children, and the infants were cared for by others, most often relatives. Common for all was also an incapacity to put the needs of the child ahead of their personal needs and desires, especially about food. As described in one case “As long as the baby didn’t cry or want to be fed when the mother wanted her own meals, all was fine”.

"The genetics of the children born to mothers with PWS has varied. Theoretically, the chances of a fertile woman with PWS having a healthy baby depend on what genetic type of PWS she has. A woman with maternal uniparental disomy (UPD) is likely to have a healthy baby, everything else being equal. A woman with a deletion has a 50% chance of having a baby with Angelman syndrome.

There are no known cases, yet, of a male with PWS fathering a child."

Studies have also shown that in spite of hypogonadism being a major feature, sexual interest and activities are common.  Treatment with sex steroids may increase this. A low level of testosterone and inhibin B (produced by the testis) and an imbalance in other hormones (LH and FSH) mean that fertility in males is very unlikely.

In women with PWS the same hormonal pattern was found, but in a few women the hormones were normal which indicated fertility was normal.  The Israeli study went on to say that "treatment with sex steroids in both genders would decrease fertility further.

There are many women and men with PWS who have very affectionate and caring relationships with each other, or with a person without PWS.  Many of these relationships are long-lasting and very important to them.  Some people with PWS marry and live with support from carers, and many are just content to be able to say they have a "boyfriend" or "girlfriend".  There are many who have an active sex life, both males and females.  Our job is to support them in their choice.





 

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. 

From Ireland to Munich

Gina Mullis is a Kiwi, living and working in Ireland.   This was her first experience of a PWS conference and she writes...

I was very fortunate to be given the opportunity to attend the IPWSO 5^th International Caregiver’s Conference in Munich this year.  It was my first time attending and I was unsure of what to expect.  Having had little direct experience of working with individuals with Prader-Willi Syndrome (PWS) and their families I hoped to get a broad understanding of the syndrome from a clinical perspective and insights from others already working in the field with respect to evidence-based best practice approaches to providing therapeutic supports and interventions. 

The two group workshops I attended on Early Intervention and Aging in People with PWS did give me the broad understanding that I was hoping for at the outset by providing valuable information on the ways in which clinical staff can best support the social, emotional, and cognitive development of individuals with PWS throughout the lifespan.  However, the greater insights came out of discussions with parents and care staff working with and caring for individual’s with PWS, all of whom were incredibly generous in their willingness to share their own personal experiences.    

Resilience Care are in the process of setting up a residential home here in Ireland specifically for individual’s with PWS and I feel confident and enthused about my role in this enterprise as a result of the knowledge gained and the relationships established at the IPWSO Caregiver’s Conference.  I look forward to developing the professional and personal relationships we established at the conference through ongoing dialogue (thank you Norbert and Hubert for the word) and sharing of information and experiences, and can’t wait to see you all again next year in Cuba.

Kiwis may be flightless birds, but these two found their way to Munich from opposite sides of the world!

 

          Linda Thornton & Gina Mullis