Tuesday, 30 May 2017

Greetings from South Africa!

Goeie dag, my naam is Karin en ek woon in Kaapstad in Suid Afrika.

This means, good day my name is Karin and I live in Cape Town in South Africa in Afrikaans.  My home language is actually English and my Afrikaans is quite poor despite having an Afrikaans mother J  Afrikaans is one of the 11 official languages in South Africa.

My daughter, Bianca has PWS and she is 9 years old.  Her favourite things are Spiderman, lego, swimming and horse riding.  She is very patriotic and loves to dress up in our South African rugby colours  and wave our flag J  My friends describe her as a trooper as she is always so enthusiastic about life and cheers everyone on!  She struggles academically and physically but her enthusiasm has gone a long way to closing the gap on her peers.

One of the challenges of living in South Africa with PWS is that there is very little medical or therapeutic support for people with rare diseases or special needs.  Neither the State nor private medical aids will pay or contribute towards Growth Hormone Therapy.  Unfortunately this means that many people in SA cannot afford to use GHT.  Special needs schools are also limited and expensive.

I find it difficult to give advice as through communication with other parents it seems our kids are all so different.  However generally I find the “Power of NOW” helpful.  Do everything you can to help your child now for their future, but don’t stress too much about the future.  When Bianca was first diagnosed and we read up about PWS we thought.. phew! we are in the “honeymoon phase”.  Well almost 10 years on and we still feel that we are in the “honeymoon phase”.  As your child grows and new challenges arise, we as parents grow too and learn to adapt to these challenges.

Have a great PWS awareness month!

Totsiens (good bye)

Monday, 29 May 2017

Greetings from Denmark

Mit navn er Jytte Helgogaard, og jeg bor i Danmark.
My name is Jytte Helgogaard and I live in Denmark.
My daughter Cecilie is 28 years old and was diagnosed with Prader-Willi Syndrome at the age of 8 months. She attended special schools during her childhood and youth, and she moved away from home when she was 20 years old. She moved to Solvang, a residential home for persons with PWS situated on a small island called Fejoe – 3 hours by car away from us and 1 hour by ferry away from the North of Germany. Here she lives together with 8 adults with PWS and she has her own apartment consisting of a living room, a bedroom, a bathroom and a tea kitchen with a total of about 60 square meters.  
(Picture: Solvang, Fejoe – the apartments)
Besides the apartments, Solvang consists of a house with a big dining room where all the meals are served. Solvang also has its own stables with horses and a farm shop where some of the residents restore old items of furniture to be sold in the shop. Cecilie has her own horse in the stable and her daily life includes horse riding, caring for the horses and other work in the stable along with field work. Each year they all go to a special music festival, abroad, activity holidays as well as the PWS summer camp arranged by the Danish Association of PWS.
Once a month Cecilie visits us for a weekend. She goes by taxa thus she doesn’t have to travel by herself. That goes for holidays as well.
Without doubt, the biggest challenges we have experienced during Cecilie’s life have been her school offers which haven’t been specifically aimed towards PWS. We have always had positive experiences with the health care system as well as with the social welfare system which have had a very good understanding of the specific problems and needs related to PWS.
At Solvang Cecilie has a wonderful life doing things that interest her (horses). She is always happy, her weight is fine and she has an active social life with the persons she lives with.
My piece of advice and recommendations for families with children and young persons with PWS will be that – when adult or about to move away from home – they should live in a residential home just for PWS. It is so important that people with PWS get the opportunity to live in a home with staff that has a thorough understanding of PWS including a daily structure, good and healthy day programs and last, but not least control of the food.

Sunday, 28 May 2017

Greetings from Italy

Mi chiamo Valentino e vivo a Conegliano, Italia
Mio figlio Marco ha 21 anni, ha la PWS, ed è stato amato ed accolto dal primo giorno della sua vita. E lui ha ricambiato, dimostrando impegno nei doveri ed entusiasmo nelle attività ricreative fin da piccolo.
Da qualche anno però non vive più con i suoi fratelli e i genitori. Sebbene egli sia un ragazzo socievole, altruista e gentile, l'ambiente familiare, l'amore e le cure non sono stati in grado di limitare le sue crisi di ira, le ossessioni, e le frustrazioni alle quali era sottoposto durante il periodo adolescenziale.
Lo sentiamo al telefono tutte le settimane e gli facciamo visita presso la struttura socio-sanitaria dove vive, che purtroppo e molto lontana. Ogni tanto torna a casa  qualche giorno, un modo tangibile per dirgli che fa ancora parte della famiglia. Ma in quei giorni ci rendiamo conto quanto sia impegnativo prendersi cura di lui.
Allontanarlo da casa è stata una delle decisioni più dolorose che abbia dovuto prendere nella mia vita, una ferita che spesso torna a sanguinare, ma credo che sia stata la decisione giusta, per Marco e per tutta la famiglia.
My name is Valentino, and I live in Conegliano, Italy
My son Marco is 21, he's affected by PWS and has been loved, accepted and cared for since his birth. He has responded, showing commitment to everything and enthusiasm in recreational activities since childhood.
For some time now, however, he no longer lives with his brothers and his parents. Although he is a sociable, unselfish and gentle boy, the family environment of love and care weren't  able to limit his temper tantrums, obsessions, and frustrations which he underwent during the teenager period.

We hear him on the phone every week and often pay him visit at the social-health facility where he lives, unfortunately very far away. Every now and then he comes home for a few days; a tangible way to tell him that he's still part of the family. But in those days we realize how demanding it is to take care of him.

Moving him away from home was one of the most painful decisions I had to take in my life, a wound that still often bleeds, but I think it was the right decision for Marco and for the whole family.

Saturday, 27 May 2017

Our Aloïs...

by Nicky Van Renterghem, Lochristi (Belgium)  

He was born on 14 Ooctober 2015, a day we looked forward to for a long time. Everything was well prepared. The delivery was planned on that day because of toxemia in my pregnancy. “We take no risks,” said the gynaecologist, “especially because of your age (40).” 

After a very easy delivery, a tiny, fragile baby came to our world. He almost didn’t move, compared with what I felt before in my belly. In my hospital room the nurse tried to start breastfeeding but Aloïs didn’t have any idea of what he had to do. “He still needs to recover from the delivery,” we thought. Later on, because he couldn’t drink at all, they decided to give him a gastro tube so that he could have the necessary nourishment. Because his temperature was far too low, they put him in an incubator.

Away dream, away baby, bye bye breastfeeding!

I started to pump milk so that they could give him the best food.  Nobody knew what was going on. The paediatrician searched every day as to why Aloïs couldn’t drink independently. Five days later our sweet little boy got transferred to the neonate intensive care unit of the university hospital in Gent; a very specialised unit! I arrived there, barely recovered from the delivery, in a unit where there are 3 wards with about 10 babies in each. Next to each incubator stood one chair. You didn’t need to expect any privacy! 

Thousands of questions and a lot of worries haunted through our heads!

There I stood, crying, close to my son in his incubator, not knowing what was wrong with him, realizing that our “dream” looked very different to what we imagined. Great respect for the doctors and the nurses. They did everything possible to help our baby and to allowing us to be involved with our baby's care.   They listened to us endlessly. 

A long period of iucertainty and examinations started. Every day we arrived at the hospital with that little hope they finally found the cause of Aloïs' problems. Every day we prepared ourselves for when they couldn’t give us the right answer. Meanwhile, we tried to enjoy our little darling who recognized the smell and sound of our voices voice while in the womb. That intensive bodily contact was really marvellous! My husband and I took turns in those wonderful moments. We couldn’t do more at that time.

After 3 weeks, we got the long awaited answer. Aloïs was diagnosed PWS. 

PW what???? Never heard about it! 

This syndrome seemed to be very rare. We started searching on the internet – the worst decision ever. Total panic at home! What does PWS mean for our family, our jobs, our life? How will his sister, our parents, our surroundings deal with it? And above all, what does it mean for Aloïs? We had appointments with several doctors: endocrinologist, gastro-paediatrician, physiotherapist, paediatrician, geneticist,…. we got a lot of information to cope with.  We understood: "your little boy will be different, your future life will be otherwise than expected and planned." 

Could we handle this? What did it all really mean? What will be the impact on our lives? We had a roller coaster of emotions, went from one doctor to another and realised: this will remain for the coming weeks, months, years!

Once we had accepted this reality,  the time came to enjoy our child. And we did it a lot! And still do! Every day we’re surprised and amazed about what our son can do. What willpower he has! Remarkable and admirable! 

We’ve adapted our life to Aloïs. Everything is well organised, planned and structured. We have a lot more hug times and enjoy them.  Our patience is sometimes put to the test, the combination work/family is not always simple but we are oh so enriched in our lives by this. Once in a while we get out of our emotional roller coaster of life to consciously dwell on 'today' and that feels good. 

Aloïs is now 1,5 year old and he can walk holding our hands. Sometimes he babbles for half an hour -  a completely incomprehensible story!  He knows exactly what he wants and doesn’t want. Every evening he gives his sister the hug of her life when she comes home from school.  He is our cuddler!  We still go twice a week to the physiotherapist and recently we go to the pool for water therapy which he adores. His weight and height are good, thanks to GH.   

We’re convinced that we get to where we want to be with the help of a lot of love, patience and understanding and we do that in our own way.

Monday, 15 May 2017

My baby is not perfect

When I was pregnant with my third child I wondered, very briefly, whether my baby would be born perfect.  My other two had, so I put the thought out of my mind and concentrated on eating well, exercising, and looking forward to the new arrival.  I noticed that my baby didn’t move so much in the womb and that there was none of the violent kicking that made my gasp and feel faintly queasy, but, in a way, this was a relief.  Her movements were gentle, like a fluttering, or a slight wobble.    My pregnancy on the whole had been calm, apart from a scare in the third month when there was slight bleeding.  I wondered if I might miscarry; it disappeared for a few weeks but then reappeared to an extent that I rang Emergency and they told me to come into hospital.  There, they made me wait and drink copious quantities of water before taking me in for a scan.  It was incredibly difficult to retain all that water, and retain my dignity.  The scan was normal.  The bleeding stopped, and the pregnancy progressed.

On my due date, I started Braxton-Hick’s contractions, the false labour that can send you into a panic.  They were irregular, just a tightening across the belly as the muscles contracted and relaxed.  Although I wasn’t unduly worried, it seemed prudent to check with the hospital.  They said to come in anyway.  So, for the second, and what I hoped to be the last time, I arrived at the hospital doors awaiting admittance.  The contractions faded soon after, and in the morning I was sent home.  There was not much longer to wait, though, and that night I was admitted again, this time in labour.

It was a struggle and, because my previous pregnancy had been a caesarean section, the doctor decided forceps delivery was going to be better, so, after a few hours of labour, she was born.  The rush of oxytocin, endorphin and adrenaline hormones made me feel elated and excited.  But there was no cry, no waving of tiny arms, just silence.  I remember the nurse holding her, naked, limp, like a rag doll, arms and legs totally relaxed.  The nurse quickly took her away to a waiting crib and wrapped her in muslin.  Still no cry.  No movement.  To begin with, I did not notice, and was waiting for them to bring her back to me.  The nurse turned to me and said they would just run a couple of quick tests.  I imagined these to be the usual muscle reflex.

It was at that stage that all my unbidden fears, all the things I had pushed to the back of my mind, flooded in quickly taking away the adrenaline and leaving me feeling as limp as my baby looked.  What was the matter?  Where were they taking her?  What was wrong?

My baby is not perfect.  The only thing they could offer was that she had been exhausted by the birth and was hypotonic, limp, no muscle tone.  They wheeled me back to the ward without my baby.  I lay there motionless, waiting for someone to bring her to me, or to tell me what was happening.  Nothing.  I waited.  Hours went by, and a nurse popped her head around my curtains and said – ‘oh, you’re the one with the baby who’s got the speckled head-rash!’  What was she talking about?  I asked her: she said straight away, ‘oh that usually means mental retardation.’

My world collapsed, spinning out of control.  I was icy calm, trying to marshal my thoughts.  What now?  Who can tell me what is going to happen?  I spent the night alone in the ward, separated by a flimsy white curtain from other mothers and their perfect babies.  In the morning the specialist asked to see us.  He said a whole lot of things that simply would not fix themselves in my head.  They entered, then flew away.  I kept asking if he would repeat himself, tell me again what did it mean?  Words jumbled around in my head.  I could not tell you anything he said.  I felt calm, as though I was not really participating in this discussion, more as though I was hovering above us all just watching. 

They brought me my little red-faced, long-limbed, silent baby to feed.  She would not suck.  I thought she was tired, but she had no power to suckle.  They gave me a bottle with an extra long teat.  ‘Squeeze the teat into her mouth’, they advised.

They let me bath her, and she lay there in the water, limbs outstretched, unable to move, barely able to open her eyes.  Every few hours they brought her back to be fed, and I pretended it was fine.  The nurses volunteered their own information, a cousin whose baby was ‘just like this’ and went on to regain her strength in a matter of weeks.  A son who never walked ‘til he was 3, but was just fine; many babies who are born tired and soon recover. 

But the speckled rash was still there, and the words from outspoken nurse who’d frozen my heart, were still tight in my chest.

It was no good, she was losing weight, not crying, not moving; just sleeping.  So they tube fed her and I watched, feeling desperately useless, and wondering what was wrong.  No one could tell me.  Failure to thrive, was the best I could get.  I was terrified, but the terror was now iced in and would not thaw for many months yet.  I expressed milk, sitting in a corner of the nursery, listening to other babies crying, feeling so alone, so sad. 

I was allowed home after – how many days?  I don’t remember, they blurred into one long day, one
long night.  And once home the feeding became the only challenge of the day.  She slept endlessly, not waking, not crying, not moving.  I squeezed the bottle’s teat into her mouth and massaged her throat, willing her to swallow.  It took an hour to feed 15 mls.  She became weaker and weaker and went back to hospital where they tube fed her, then left her to sleep.  I would drive to the hospital and sit with her for hours begging her to pull through, to be normal, to come alive.  She lay motionless and pale.  Sometimes when I held her she would open her eyes and engage mine.  That was when I would pray, to what, to whom, I did not know.  They were just words repeated over and over, “let her live, let her be alright”.

She wasn’t, of course.  There was something not right and the hospital continued to look for an answer.  I came in day after day, asking whether they had found out what was wrong.  One day there was a plaster on the calf muscle of her tiny leg.  They’d taken a muscle biopsy to see whether she could have Werdnig Hoffman’s Disease.  Spinal muscular atrophy.  A wasting disease that had a child living 18 months or less, then wasting to death.  But they didn’t tell me that.  It was years and years later when Google came into being that I found the answer.  I could then see why they tested for it.  All of the symptoms and characteristics were there.

After she had gained some weight, I took her back home.  I encouraged her to stay awake for longer by not putting her to bed, but setting her up in her bouncinette so she could watch the other children, hear household noises, listen to music, watch the dogs.  Slowly, very, very slowly, she started to become more alert, she smiled, she watched our world from her own.  But there was no answer to her medical condition; she still had the label of Benign Hypotonia.

At three and a half years old, when she was finally walking albeit unsteadily, finally talking a language of her own, and we had accepted her as she was, a friend showed me an article in an Australian women’s magazine about a child who was about 10 years old and who had started life in the same way as our child had.  The child had a deletion in the 15th chromosome which caused all sorts of things including hypophagia.  An inability to know when to stop eating.  Obesity and early death usually in their teens, followed.

The darkness that descended was again, indescribable.  Our daughter now wore a different label, that of Prader-Willi syndrome.  Again, we were still pre-Google, pre-internet, and pre-information.  This time, the block of ice that had served me so well in the beginning, had melted and what was left in its place was a well-forged, intensely heated rod of iron.  The fight was on, let the battle commence.  I fought for knowledge.  I asked questions.  I was no longer afraid of medical professionals spouting coded messages.  I would not leave their rooms until I had the answers I needed.  It was a long wait and usually ended with one step forward, two back.  The geneticist took down a large medical dictionary, opened the page at “P” and left the room.  Why did he do that?   I still have no idea.  Did he expect me to turn the book around and read the section on Prader-Willi Syndrome (as, of course, I did)?  What then?  Did he think I would understand?  He returned eventually, but threw no new light other than this was a genetic disorder.  The paediatric psychologist did all sorts of puzzle tests with her; finally walking us to the door and saying, ‘Oh look, there’s a young lass with PWS, do you really think your daughter has that?’  How the hell did she not see it when I could, so clearly?

It was an ongoing battle.  Friends who knew me well stood by me.  Family worried about me.  No one else mattered.  I had become fanatical about this wretched syndrome, but I kept it to myself knowing how quickly others become bored with fanatics.  Slowly, bit by bit I recalculated my life.  It was a completely new rebuild; I discarded things that no longer held true; fanciful, dreams that would never come true, people I couldn’t be bothered with, certain principles were abandoned in favour of new.  There was a fire sale – a big one – and I closed down the old burnt-out me.  I reopened some months later, just a few doors at a time, just a peep now and again until the paintwork was reapplied, the garden weeded, the fences restored; a completely new façade gave no hint to its terrified interior.

Our daughter grew up, did not die, was loved, educated, and though there were some dramatically bad times, we all got through them.  The façade of the new me still held good.  However, the interior always needs re-strengthening, redecorating, reviving, and old things cast out for new.  It has worked; most of the time it has worked.  Now many years later, life is different, but it is still good and the interior decorating still goes on.   

We may think that nothing is perfect, but life has taught me that perhaps it's just that we are all different.

Thursday, 4 May 2017

Australia's National Disability Insurance Scheme

It is interesting to know what other countries do to develop a strategy of care of those with disabilities.  Australia is just rolling out their much-awaited National Disability Insurance Scheme and James O'Brien, the Australian PWSA President, describes it here.

Greetings from Australia!
I have included a link to a short video explaining our emerging National Disability Insurance Scheme (NDIS) in Australia. The video was produced by the National Disability Insurance Agency (NDIA), the organisation that runs the NDIS. 

Why are we sending you this link when you obviously can't access the NDIS if you live outside Australia? 

Rolling out of the NDIS will be great for people with PWS in Australia. Prader-Willi Syndrome Australia (PWSA) believes that all Australian residents with PWS will qualify for acceptance into the Scheme (Note: Criteria for qualification do apply). Supports that were previously scarce and intermittent should, over time, become adequate to enable an 'ordinary life'. 

However, this won't come without risk. Because the NDIS wants to give back to the individual with special needs their right to control their own life (individual 'choice and control'), PWSA is having to rethink our family support focus. The likely shift will be away from 'caring' for the individual in a sheltered environment to 'supporting' the individual in their community, with a huge focus on enabling them to achieving an 'ordinary life'. 

What should an 'ordinary life' look like for a person with PWS? How do we deal with the many risks that stem from self empowerment (individual choice and control)? How do we enable yet minimise restrictive practices? These concepts are all up for review for PWSA. IPWSO have already taken on the complex task of steering a review into restrictive practices. 

Each individual entering the NDIS will, with the assistance of their families, need to develop personal 'goals' for their funding application. While all goals will be individualised and 'person centred', PWSA is setting up a mechanism to enable the sharing of 'goal' ideas between families. Hopefully this will enable us to better understand what may be possible and what obstacles need to be overcome to enable an ordinary life. 

We look forward to your input over time with this and other components of our review process. Our hope is that learnings discovered may inform the wider IPWSO community and possibly assist in formulating future international goals and standards for our broader PWS community.

Thanking you in advance for your help. 

James O'Brien
President, Prader-Willi Syndrome Association, Australia