Saturday, 30 July 2011

The Therapy of Love

Daniele and "his" children

By Giorgio Fornasier  (Italy)
My son Daniele was born 32 years ago and we were lucky that the pediatrician who saw him first knew about PWS and made a clinical diagnosis when he was 8 months old.

After he finished his studies at a professional school, he worked successfully in a couple of factories for over 11 years and was happy to live a life that looked normal to him. Two years ago, all of a sudden something changed dramatically and we think someone at work offended him saying he was a disabled boy without a future. He probably opened his eyes on a different reality and realized he was nearly 30 years old, most of his schoolmates were driving a car, had their own apartment and were married with children… He had nothing instead and no hope or expectations to have it in the future!

He fell into a depression, left his job and kept crying. He tried to find a way out and thought life was easier in South America where we went together and where some “friends” told him he could get as many girls as he wanted and he could get an easy life. He started speaking Spanish and changed his name with a Spanish one and got angry with anybody calling him Daniele. He also phoned travel agencies trying to get an air ticket to go to Paraguay and drove us a bit crazy.

Facing this crisis, we felt lost and desperate and took him to a specialized Hospital in Milano. For the first time in his life he had to take psychotropic drugs to overcome his paranoiac obsession and after a few months he forgot about his Spanish identity and was Daniele again.  But he was no more the lovely, cheerful and caring boy we knew and we had to accept this change and a new reality.

To worsen the situation ten months ago his brother Redi, who is only one year older, became father of a beautiful boy whose name is Alessio. You can imagine how happy we were, but Daniele wasn’t and strongly refused to be called as a uncle and did not recognize him as his nephew. Psychologists at the Hospital said he was jealous, but this was not the case. Our children with PWS are not stupid, they have a simple but clear and precise logic that we “normal people” often do not realize. To recognize Alessio as his nephew was the same as admitting his defeat and to be different with no hope to be a father himself too.

I took Daniele with me to Brazil last February to offer my wife a period of relief, as I was leading a group of 40 tourists to visit  the South of this Country where a large population of Italian origin lives. At the end of our program we visited Bairro da Juventude, an Institute run by an Italian Priest, Father Vincenzo Lumetta, who takes care of over 1,500 children who live in the poor and degraded outskirts of a town in Santa Caterina State.
Children who have not enough to eat or have not enough clothes and often suffer any kind of violence. Children who can have a future only in this house where they can find love, food, clean clothes and especially a good professional education, so they can get a job when they finish the internal school. As I am personally involved in helping this mission to support these children with individual sponsoring of Italian families that we call “distance adoption”, I always take people I lead on tours there, as they usually adopt many children and provide the money they need to be properly followed and continue their studies.

I was too busy to follow my group of 40 persons and I did not realize that my son Daniele chose a boy and a girl, took a form and filled it completely with all data to become their “father”. While I was in the office together with Father Vincenzo and had just made my annual donation to the Institute, the door opened and a shiny Daniele came in holding a boy and a girl by hand. He was excited, but at the same time he was afraid of my reaction, as he did something important without my permission. He first looked at me and then said: “Father Vincenzo, I adopted these two children!”. Father Vincenzo who knew about Daniele’s crisis smiled and said: “They are yours! Your father just paid one year fee for both.”

I will never forget the gratitude and happiness in my son’s eyes. He gave me a long strong hug and then introduced me to my new grandchildren João Pedro and Ana Alice. Then Daniele asked me to give him my mobile phone. He phoned my wife first and said: “Mom, I made you Grandma twice!”, then he phoned his brother and proudly said: “Now you’re uncle too!” and then he said the key magic words that made me cry and understand the nightmare was over: “How is my nephew Alessio?”.

A few days later I brought a new Daniele back home, the happy smiling boy we knew, more mature and more careful now. He was no more a child, but the responsible father of João Pedro and Ana Alice. Since then our life has changed and our son Daniele is a wonderful uncle to Alessio and went back to work as a volunteer guard at the local Municipality. He always talks about his children and proudly shows their pictures to everybody he meets, as all “normal” parents do. He writes to them quite often and they answer to him and have exchange of drawings they make, hoping they will be connected soon by Skype, so they can talk directly and see each other on webcam.

Once again our son with PWS is surprising us. He found the way out alone and the perfect solution to his problems. He did not know the causes, but he realized he could not have biological children in his life, so he found the easiest way to get his own family anyway. His life has changed completely and everything is finalized to his international family, so he is taking care to save or earn the money he needs to pay the annual fees, he often writes emails or letters to them and get organized to send gifts or wishes for their birthdays or for Christmas.  We plan a trip to Brazil with Daniele every year to see how our grandchildren are doing and this is really the best therapy we can offer our child and ourselves too… a therapy of love.

If anyone wants more information on Father Vincenzo’s program, they can contact Giorgio at   Giorgio is the past president of IPWSO, the international organization for PWS, and is currently the Director of Programs for IPWSO. 

Saturday, 23 July 2011

Smarter than Jack....

... is the name of a series of books that my daughter likes to read.  It's more of a catch-phrase in our household for just how clever those with Prader-Willi Syndrome can be.  She now lives in residential care with another young woman with PWS who is also smarter than Jack.  They've known each other since they were very young and have grown up together (well, as much as you can be with the geographical distances); sometimes liking each other, other times, well, just not.  It's the way of PW.  Especially when you're both smarter than Jack.

Locks are part and parcel of managing this syndrome.  Locks on food cupboards, pantries, refrigerators, and, if possible, on handbags and wallets.  This is because  the dysfunctional hypothalamus (two words I've learned to spell and pronounce with monotonous regularity)  does not have an 'on/off' regulator switch for the appetite.  Which means - bottom line - those with the syndrome can eat themselves to death, quite literally, if not managed on a 24/7 basis.  So, there are locked cupboards in our house, along with a locked fridge.  Siblings always resent this, and who can blame them.  It's unnatural, prison-like, embarrassing, and, well, just too different to be normal.  But for the one with PWS, it's seen as a relief.  It's a unpassable boundary.  It's safe.  There is no need to fret about food being such a temptation.  And, besides that, it's a total protection for what is seen as "my" food.  Sibs can't get at it, outsiders can't steal it, it's quite safe, and of course, if you're in residential care, staff can't help themselves to it either.

But, if you have PWS, and you're smarter than Jack, it stands to reason that locks are a temporary barrier, a challenge if you like, and let's see just who's smarter than whom.  My daughter and her friend live in residential care.  The locks are the best keypad variety with many, many combinations.  My daughter saw this as an 'end of story' limit.  Her friend saw it as a challenge.  For days and days she watched carefully as the staff punched in the code to open the kitchen.  Even though staff turned their backs and obscured her vision, she still watched and learned.  She counted the number of punches: four.  She noticed the "C" button was used first, and realised that staff then only used the top three numbers.  Still keeping quiet about her observations, she waited for an opportunity to test out her theory.  She punched the C button, then tried several options for the top line.  One of them worked.  She was ecstatic.

Friend made an executive decision.  She would not tell my daughter just yet as she would be "too over-excited".  She would wait until the weekend.  Quite often temporary staff were on over weekends and, because there was not necessarily a schedule, staff wouldn't be on their cases time-wise.  Careful time-watching gave the girls the chance they needed.  The code was cracked.  The kitchen was entered.  Cupboards were quickly opened.  Disappointment reigned as there was only "healthy" food :-(

There were water-crackers, though, and noodles.  Butter and jam was sneaked and a packet of noodles smuggled out of the kitchen.  Door was relocked and girls retired to my daughter's bedroom.  Guess what?  They decided they wouldn't eat raw noodles - good grief no!  They had a much better idea.  Back to the kitchen, out with a small stainless steel bowl.  This they filled with enough water to cover the noodles, and placed the bowl on top of the heater.  Friend decided to leave the bedroom "as staff would want to know what we were doing", and with instructions to call her the minute the noodles were soft, my daughter was left to preside over the cooking.  Apparently it took 15 minutes before the noodles were considered edible, but the surreptitious feast was made all the more delicious by the knowledge they'd been smarter than Jack.

Of course, it wasn't to last.  Although not caught at the feast, the friend was snapped early on Monday morning, standing in the kitchen deciding what to take next.  Discretion was not the better part of valour, and so the story of the locks came to a sad ending.  For the time being, I daresay.

(For dietary needs in PWS, click here)

Thursday, 14 July 2011

Men and Grief

A very good friend of mine (also with an older daughter with PWS) reminded me of the early days, “back when…” and all the struggles we went through to get recognition for our children, to understand the syndrome, and to cope with the grief it brought with it.  That got me thinking about grieving and how it’s so ongoing with PWS, but as time goes on you tend to pick yourself up and carry on.  That reminded me of an article a father once wrote and submitted for a magazine I was editing at the time, and I thought it deserved a further look.  He wrote:

“I had been looking forward to the birth of our first child.  For months I had been fascinated by her movements inside her mother; at the beginning little fluttering and then as the months passed, stronger, more vigorous movements.  It was exactly what one would expect of a strong, healthy baby.

“I was present at my daughter’s birth, an experience that defied words.  All stories and films that had the birth of a child in them made much of the initial birth cry.  I was absolutely unprepared for our experience: she arrived without a sound.  I have a clear picture of the doctor holding her up, her little mouth shaped like a cry, but there was no sound.  I am unable to describe what came over me at that moment.  Words like “shock, disbelief” do not even hint at what I felt.

“My overriding reaction was what I can only call resignation; whatever would be, would be, and I had no power whatever to change any of it.  I was devoid of feeling.  That stayed with me for months.  The only thing that broke through my lack of emotion in those early days was a kind of subdued elation when our little girl would actually swallow milk from an eye-dropper which was the only way we could feed her.  Eventually our efforts weren’t enough and she had to be tube fed at hospital.

“At work, I was an automaton.  I have little recall as to whether I was happy or sad, warm or cold; I had no appetite.  I used to enjoy a drink.  I never tasted the stuff from this time for months afterwards.

“As the hospital, testing continued to determine what the condition might be; I became aware how differently my partner was responding.  She saw all tests as a challenge.  I was indifferent to the various tests and as each eliminated this or that possibility, she saw all these as major victories.  The diagnosis at this stage was ‘benign hypotonia’.  I was conscious that I was unsupportive.  My partner’s hopes were constantly undermined by my scepticism, actively negative, and yet I could not break out of the “what will be, will be” mindset.  While my wife wanted to talk about progress and development and testing, I just wanted to be left to myself.  I had closed off – little outside myself held any interest.  I ‘escaped’ into Wilber Smith.

“A friend was a good listener, but I could only share at a superficial level.  Talking was not helping as the overriding feature of ‘all this talk will not change anything’ undermined any chance of healing.  

“The second stage was marked by my waking one day and noticing the sun was shining.  I felt warm for the first time in months.  This time pin-pointed another stage: anger.  Wild mood swings, optimism (that our little girl would be ‘normal’ that she would outgrow this strange condition), followed by depression caused by the uncertainty of what the condition would mean long-term.  I cried more now – most nights.  Sleep was full of curious dreams and I would wake up exhausted.  But there was less of ‘what will be, will be’.  By now our little girl was drawing me more and more into her life.  I felt I was able to share more of my partner’s hopes.  The future seemed much less fixed.

“Eventually our daughter’s strange condition was diagnosed as Prader-Willi Syndrome.  It took me a long time to accept this.  I read all I could about the syndrome, the information coming from my partner’s research; a book here, a paper there, an article somewhere else.  After a time, I noticed a shift in what I was feeling.  The crippling resignation had given way to a hope that what was now did not have to be in the future.  My wife was already planning counter-measures for our daughter to run against the classic symptoms – extra help for learning, exercises to firm up the little muscles, games to keep her stimulated.

“Sometimes it seems a long time ago; more often, it feels like yesterday.  A kind of emotional evenness came when she was five and a wholeness at seven.  The anniversary is still hard, but my partner eases me through it each year.

“Yes, we men do cope with grief differently.  Education should enable us to cope better.  I hope so.”

Contributed by Linda Thornton

Wednesday, 6 July 2011

Let's talk about sex

In the past we swept the subject of sex under the carpet.  We knew that women with PWS menstruated infrequently, if at all, and that males were infertile.  Also, in those days, sex hormone therapy for males and females wasn't really an option, so the whole chapter of sexuality was closed for many years.  It was rudely opened in 1999 when the first birth of a healthy baby girl to a woman with PWS was recorded in Sweden.  This was followed in 2001 when a 32 year old woman with the deletion diagnosis was recorded as having given birth to a baby with Angelman’s Syndrome, in Denmark.  The third recorded birth was in New Zealand in 2004 when a baby girl also with Angelman’s syndrome was born to a young woman with a genetic deletion diagnosis.

Sex hormone therapy is now recommended for both males and females with PWS.  This “encourages the development of secondary sexual characteristics and potentially improves bone mineral content and density”
It will also induce menstruation and the likelihood of pregnancy.  This means greater observance of lifestyle, good sex education and support, as well as a better understanding of how to cope with the resulting birth.  It is also recommended that males have testosterone therapy, and many youngsters are on growth hormone therapy and may well continue to be on GHT into adulthood.  Combined with sex hormone therapy, could this mean an increase in fertility? What about sex itself?  Marriage, even?   

Back in 1999 I visited a residential home in Seattle where a couple (both with PWS) were engaged to be married.  I asked the young man why he wanted to marry, and his reply has stayed with me ever since…”because I want to see her in the shower”.  I don't know whether they married, or whether they just lived together.   I know of another couple in Australia, she with PWS and he, not, who married.  I don’t know the reason behind that one!  

It used to be thought that marriage was too serious a contract for a person with an intellectual disability to enter into and that a person with PWS would be likely to walk out at the first sign of a melt-down.  Same as it was thought that a person with PWS should not drive a car as they would probably have road-rage.  However, I know of two people who have their driver's licence and have held them for quite some time, content to potter around their local town on their own.

Many of our young people want to experience a close relationship to "have" a boy or girlfriend, and nearly every young woman with PWS that I have met expresses a desire to have babies, to look after babies and to have them to cuddle and hold.  Most have a fine collection of dolls, or soft toys and many are genuinely wonderful with small children and babies.  However, I know from talking with the young woman's family in New Zealand, that there were many difficulties involved, even from the beginning when no one knew she was pregnant until a visit to the doctor in her last trimester brought the surprising news.  Birth was by caesarian section as they did not think the mother would be able to tolerate a natural birth.  The mother was overjoyed to have her own baby, but not so overjoyed when the baby cried and interrupted her dinner time.  Neither did she prove a natural mother able to care for a small baby or answer its constant demands nor did she express great interest or maternal instinct.  

What she did want, however, was for her baby to grow up quickly so they could live and travel together.  The baby has Angelman's syndrome and is cared for by the grandmother and sister while the mother is in residential care.  She does have regular contact with her natural mother, but the daughter's relationship, as one might imagine, is closer with her primary caregivers.

Somewhere along the line there has to be an extra element of responsibility and care from parents and caregivers alike.  There still needs to be educated and intelligent management and support around such important decisions as choosing to share your body or life with another.   There have been many changes in the way we care for and manage the lives of those with PWS, and doubtless there will be further improvements as we understand the needs of those with disabilities.  

At the end of the day, I expect every parent will share the same thought, regardless of whether there is a disability or not; "I just want my son/daughter to be happy", but let's make sure we know what they want, and how we can ensure that happiness and support.