Monday, May 15, 2017

My baby is not perfect



Contributed
 
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, May 4, 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. 


https://www.facebook.com/NDISAus/videos/704562376371274/
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

Tuesday, May 2, 2017

Anders and his Girlfriend

by Jean Phillips-Martinsson (Honorary President, IPWSO)


Since he was a teenager, Anders has always loved girls.  To my embarrassment, when he passes them in the street his eyes light up and he mutters "yum, yum"!  Now, at the age of 46, he has fallen in love!  

It happened the first day at his new job, he tells me on the phone when he arrives back at his group-home in Stockholm. As I live in the UK, I couldn't wait for that phone-call to hear if he liked his new job. 

 "Super! super" he replied.  Then there was some mumbling before he came out with "and one of my new colleagues is a very pretty girl who is in love with me."  

"How do you know she's in love with you?" I asked.  

"We had a dancing lesson and she pushed herself against me" was his reply "and I'm in love with her too!"

The phone-call, as usual, lasted well over an hour with our question-and-answer conversation. 

"What's her name?" I asked, "and how old is she?"

"I don't know", was his reply to all my questions "but I must remember to ask her."

Over the following months, not a day went by without phone-calls from either Anders or the staff from his PWS group-home. Despite that our group-home has been open for 25 years, this was a first!  The two of them wanted to be together alone at weekends, but how and where?  Both of them were normally accompanied by personnel when they left their group-homes.

We'd discovered that her name was Hamilmal and that she came with her family to Sweden from Ethiopia some 16 years ago.  She is now 34 years old, lives in a group-home for those with severe learning difficulties, which is some way from Anders' group-home, and has problems speaking and understanding Swedish.  Anders is bi-lingual with English and Swedish and assures us that they usually understand one another....... Body language? Facial expression?

Finally, the staff from Anders' group-home went over to meet Hamilmal's staff to exchange information about their disabilities and to come to some form of agreement. Since Anders' 45 sq.m. apartment is free from food, has its own bedroom, bathroom and sitting-room, it was decided that Hamilmal would come over to Anders by taxi.  Anders then invites her for lunch which the staff bring into them, having as usual, weighed Anders meal.

This works well and for the past year Hamilmal nearly always spends Saturday or Sunday in Anders' apartment.  Anders tells me he's happier than he's ever been.  Both the staff and I agree that he's become much more empathetic, more interested in others and more caring altogether, since meeting her.  

But the big questions remains, what about their future together?   "We want to get engaged this year and get married next year,"  Anders told me when I was with him last summer. He even suggested that they move in together.  But how is this possible when they both need their own staff to support them? Hamilmal would not be allowed to move into Anders' apartment block, where 5 others with PWS are supported by 19 staff, all specialised in PWS.  An independent apartment would also be out of the question.

I'm aware that a few couples with PWS have married with support from carers who are versed in the pro's and con's of PWS. But when one of the partners knows nothing about PWS, is in great need of support herself and needs to have an Ethiopian/ Swedish interpreter with her, what solutions are there?  I've tried to explained this to Anders. His reply?  "I'll take care of her all my life..."

At his birthday party last year, he even gave her a ring, as a present.  At first she refused it, as it was too big for her. However her Ethiopian guardian, who was with her, explained that it could be made smaller.  Now, Anders tells me, she wears it on her ring finger.  But he hasn't proposed yet and isn't quite sure what she thinks about it.

Any families who have found solutions which enable their offspring with PWS to be able to co-habit with a partner without PWS, please email me!

Greetings from Belgium!

Greetings from Belgium



Je suis Cynthia, je vie en Belgique dans la merveilleuse ville de Gand.

Notre enfant, Samuel, a le syndrome de Prader-Willi.  Il a bientôt 5 ans et c’est un petit garçon adorable.  Il va a une école normale et jusqu’à présent cela va bien, pas très bien, mais je crois que nous ne pouvons pas nous attendre à plus.  La plupart du temps c’est un garçon heureux et il apporte du bonheur dans notre vie.
I’m Cynthia, I live in Belgium in the wonderful city of Gent.
Our child, Samuel, has PWS.  He’s almost 5 and a sweet boy. He attends a normal school and until now it goes well, not very well, but I think we can not expect more. Most of the time he’s a happy child and brings joy in our lives.
We didn’t have a very good start with him. When he was born, he was almost immediately diagnosed with PWS but we were never told this until he was 1 year and 3 months old. They did genetic tests shortly after he was born and they came to the result: PWS!! But no one told us that our son had Prader-Willi syndrome.?! Can you believe this!!!
Meanwhile I struggled and “felt” something was wrong but nobody listened to me or believed me. His first months Samuel was very skinny and had a hard time drinking his milk; that was too difficult for him. He didn’t have the strength to drink from a bottle. He was never hungry, we had to force him to drink enough and because he slept so much we had to wake him up every 3 to 4 hours. It really broke my heart, but we didn’t know anything better. I was a wreck and mentally broken.
After quite some months, he finally started eating better. He even became chubby and we were happy, he was eating so well compared to his first months. Because we were still worrying about a lot of things, we went finally (when Sam was 1 year and 3 months old) to an other hospital to an other paediatric doctor. There, we heard for the first time that he was diagnosed Prader-Willi Syndrome.
When he was 1,5 years old we started with a diet and changed our way of living and eating patterns. We got very good tips and tricks by a physiotherapist who came to our house every week. She helped Samuel to move more and started learning to use his muscles the right way. When he was 2 years old he could walk, he made us proud!  And ever since he makes us proud every day, because we see him now as a “normal” boy with his strengths and his weaknesses. We are very happy he developed a normal IQ; this could have been differently, we realise that. The only problem at school: he has difficulties with the big group of children in his class and he’s often tired by noon. Now he can choose 1 afternoon in the week he can sleep and this helps.
He will never be a great gymnast, but maybe he’ll love playing a music instrument. We take it day by day.
So, if you are parents of a child with PWS... don’t be sad or worried, God is in control and will take your child through everything that comes on his or her path. They are special!

Monday, May 1, 2017

Greetings from New Zealand

Greetings from New Zealand
My name is Francie and I have PWS.  I am 32 years old.  I live in a residential home with different caregivers who also stay the night.  I have a cat, but I want to have a dog as well.

During the day I either go to pottery, or woodwork, aqua aerobics and I volunteer at a place called "Kitten Inn".  I used to do a lot of other stuff as well, but it falls to bits after a while.  I had paper runs, volunteered at the Salvation Army shop sorting out clothes, and did Avon makeup for a while.  I like to work out different ways of doing things which often aren't appreciated.  People also think that I steal stuff.  It's so hard having Prader-Willi.  I used to find school difficult until I went to a special residential school called Salisbury.  Everyone there had special needs.  It was such a good school but now the Government is closing it down.  No one understands.
I have three little nieces and one nephew.  I love to buy them things, but that often means I don't have enough money left.  I like to visit Mum and Dad, especially when my sisters and their children are there.  Three days is enough, though.

Greetings from Australia!



Hi, my name is Ashley. I am a 23 year old boy with PWS. Life is pretty good down here. I live out of home in shared supported accommodation with 4 older men who have various special needs. There are 3 people supporting us during the day and one awake support worker at night. The kitchen cupboards and the front door are locked and I try my best to keep the carers busy by constantly checking the locks and by getting up many times during the night! We often have unfamiliar staff who don't understand PWS and me and my flat mates also fight a fair bit which can make me very sad.

We all go to a day program from 9-3.00pm during week days where we study, do some volunteer work and have fun. My favourite is doing the paper round where we stuff letterboxes with those beautiful junk mail catalogues! I spend most Saturday nights with mum or dad and go for long walks, bike rides, swims (20 laps of the 25 metre pool) or window shopping.

My disability pension from the Australian Federal Government pays for my food and rental and subsidises part of my day program, with just a few dollars left over for clothes and outings. The house and day program support workers are funded by the State Government. Not everyone in Australia has these supports, mum and dad have had to fight hard to get them for me. However, things are about to change. Australia is commencing a new National Disability Insurance Scheme (NDIS) which may make support funding more available for other people with PWS.

The NDIS will work something like this. Everyone in Australia will pay a small insurance premium in their taxes. If they are born with or become significantly disabled, and the disability is lifelong, they can apply to the NDIS to receive supports that are ‘reasonable and necessary’ to live an ‘ordinary life’. The scheme will not pay for the ‘extraordinary’ and the supports must be ‘value for money’. Perhaps another way to explaining it; this is a bit like an extension of our national health system – NDIS pays for supports on top of healthcare.

Once I get my NDIS funding I hope to make some improvements in my life. I would like to live in a home designed specifically for people with PWS and I would like to find more work (paid or voluntary).  Don't get me wrong, life is still pretty hard for me with the day-to-day challenges of living with PWS, however, on balance I feel fortunate that I am able to access many supports. Yes, life is pretty good here down under! I also recognise that many people may be finding it much harder in other countries and I urge readers of this post to consider donating to the great work of IPWSO in helping people across the globe to improve their life by clicking HERE.

Ashley and James (father)


Sunday, April 30, 2017

Joseph's story

Joseph IS the very core of our family. It consists of me, Richard - Dad, Jenny - Mum, and Joseph’s adored much older half brother and sister Ben and Katy. Oh - and of course - Charlie Brown the cat.

Joseph was born at King’s College Hospital, London at 5.02pm on 12th December 2002, making him in many ways now a very average adolescent! But that December day was far from average. As a new Dad, seeing that small bundle of life appear into the clinical world of the operating theatre was an awe-inspiring sight. But then: “I can’t get hold of him - we will have to use forceps”…such a little cry…“he has a ‘grunt’”. The concerned look of the midwife. The quiet, subdued procedure of the doctors. Will he suckle? So floppy…so still - lying on Jenny’s chest. “Can you explain what’s going on”? “He has blond hair, undescended testes, almond shaped eyes and is floppy”. “We need to speak to our Senior Consultant tomorrow”. “Let’s wait until the morning”. “We’ll take him to Intensive Care”.

That was Joseph’s first piece of good luck. It so happened that their Senior Consultant had excellent knowledge of PWS - but unfortunately no bedside manner. She closed the curtains around Jenny’s bed, and with just a little more than a metre between us and the glowing new mothers and babies either side she told us that Joseph had a rare chromosome disorder. As all preconceived ideas of the next 30 years drained away - one phrase stuck out. “He will never be able to hold down a job”. In that moment I knew that “never” was not a word I was prepared to tolerate.

Joseph was moved to the Special Care Baby Unit, which defined our lives for the next 6 weeks. The curious doctors peered over Joseph - something of an accidental celebrity. He would not suckle and needed a feeding tube. Quickly we learnt to take one day at a time and fell into the rhythm of the hospital routine. But then some hope. We met an amazing nurse called Jude. With much patience Joseph started to take milk from a bottle with an orthodontic teat. He put on weight.

Then one day that tiny little thing who you might hardly have noticed, sneezed five times in a row - so loudly that it brought the whole ward to a standstill! He was starting to make his mark on the world!

Following blood tests we discovered that Joseph had the Uni Parental Disomy (UPD) form of PWS. Christmas and New Year came and went, and then soon there began talk that we might go home - but not before I was taught to fit a feeding tube.

Then, one snowy day in January 2003, we brought Joseph home. To see him asleep in his own Moses basket, not a hospital cot was an extraordinary thing. No beeping monitors - just him and us. He gradually began to thrive - a large part of this due to Jenny’s heroic effort to express milk for Joseph for the next 6 months. The moaning sound of the expressing machine became as much part of the sound of home as the letterbox clattering as the post arrived, or the quiet ticking of the living room clock. The days of our stay in the Special Care Baby Unit were behind us - but even now, come Christmas, my memory always conjures up the pungent smell of the hospital soap in the hand washing section of the unit.

Joseph’s will to live was palpable. He thrived and determinedly developed, helped by our wonderful National Health Service (NHS) Physio Barbara - naturally, an Australian! She taught him to pull off his little socks, and we will never forget the sight of Joseph being helped to sit up using an exercise ball - his face straining with the effort as his muscles reluctantly held his weight. By the age of 2 he walked and at 5 he was riding a bike without stabilisers. He began growth hormone treatment which kept his fairly trim physique developing. But gradually, over time, the feeling of positivity was taken over by an increasing sense of struggle - coinciding with the start of Joseph’s education. A struggle to unpick Joseph’s ever more complex needs - social, Speech and Language, Occupational Therapy. A struggle with funding bodies and a struggle to help people working with Joseph understand him - some not willing to go the extra mile - for whatever reason.

But others who were dedicated, compassionate and flexible - ready to fight Joseph’s corner. After more twists and turns, joys and sadness, our progression of understanding took Joseph from a huge London primary school with classes of 32 to specialist schools for Speech and Language Therapy, and later Speech and Language and Autism with classes of 5 to 10 children in rural Surrey in south east England. A long series of battles, meetings, expensive private reports (the authorities versions are too inadequate to make any difference - discuss!) tribunals, advocates, a barrister - all at great cost - financially and emotionally. These are battles one cannot fight alone. We believe Dr Sarah Bernard from the Michael Rutter Centre at the Maudsley Hospital, London was one of those who helped win the education argument for Joseph. Thank you so much Dr Bernard.

But everything from the age of 8 - 13 was hopelessly confused by a lack of understanding of Joseph’s mental health situation. His behaviour was deteriorating rapidly and becoming more physical. Finally Joseph’s case was picked up by the NHS’s Child and Adolescent Mental Health Services. My lack of knowledge of mental health care in the UK at the time led me to believe that their involvement would mean Joseph would now receive the help he needed. Initially, Joseph received a diagnosis of having an Anxiety Disorder. But treatment through both therapeutic methods and using drugs didn’t seem to help. But then, one night following a few days of taking an SSRI drug, Joseph could not sleep. This then happened for several nights running. He became exhausted and his mood increasingly elevated until eventually he could not dress, eat or drink. His thought processes became confused and jumbled. The simplest of tasks was impossible.

Our health professionals could not decide what was going on. Was it confusion? Mania? It didn’t quite fit any diagnosis. I pointed out the link between the UPD form of PWS and Psychosis. Should we not re-examine the diagnosis? But they were adamant there was no need. There was also no plan to find a way forward. Due to lack of funding and the resulting under staffing the appointments were hopelessly infrequent. There was no thorough analysis, and they chopped and changed between drugs meaning it was impossible to work out if anything was working or improving.

By now, Joseph could be fun and loving, but he could also be extremely low and withdrawn. The violent outbursts seemed more frequent - different to the toddler type outbursts from earlier in his life - much darker. Several times we were forced to call the Police. I shall never forget the sight of my beloved son being restrained by some very caring London Policemen - they had no choice. Still the professionals refused to revisit the diagnosis. Eventually also, a much fought for school placement broke down. He started to refuse to go to school. With the help of some dedicated staff, and a very caring taxi driver, we adapted and Joseph started attending school for just an hour a day. Activities were entirely led by him, it was only a short time, but it did keep him crossing the threshold of an educational establishment.

A year or two earlier, I had been advised by the PWSA UK to contact a certain Professor Tony Holland regarding a different issue. Patron of the PWSA UK and President of the IPWSO, I remembered that Professor Holland has vast expertise in mental health. In desperation at our situation, I dug out his email address, and explained our situation. He offered to come and see us at home.

Joseph was in a state of confusion/mania. He spent time talking to Joseph and I explained - he patiently listened at great length to what was going on. After consideration, he concluded that Joseph most likely had Psychosis with a bi-polar element. With his vast experience, he was able to plan a way forward. He advised our local services, and so we started to keep mood charts and began a methodical medication plan. He insisted we needed to have patience and in time the evidence in the shape of the mood charts revealed the best way forward. However, in the meantime, Joseph had several more bouts of mania - the last in November 2016. It was the longest and most severe yet and we explored hospitalising Joseph.

Such is the lack of funding of NHS mental health services, and the lack of public awareness that it turned out that the nearest bed for a Special Needs child with mental health needs was some 120 miles away. With Joseph in the state he was in - despite the violence - transporting him such a distance would not have helped the situation. The only positive of those situations where the Police were called was that it led to contact with Social Services. It took about a year - but eventually Joseph was given a social worker. She met with us and we explained everything. It was so hard to put across the complexities of our situation.

But in time, she did understand. She, almost single handedly, ensured we were assigned funds on a very large scale that subsequently meant it was possible for Joseph to go to a different school which would be able to cope with his extremely complex needs. It was an instrumental move of great compassion that has made a colossal difference to Joseph and us his family. We will always be immensely grateful to her for this.

Now, life is so different. Joseph attends a 52 week placement at Fullerton House in Doncaster in the north of England, where he lives and goes to school. After such a long period, essentially out of school, the staff made an incredible effort to encourage him to give it a try. He leapt at the chance. Now, academically he is starting to thrive again - his thought processes becoming more sparky. He is much calmer, active and his increased independence from us has meant he has developed in other ways. Overall, his confidence is returning.

We visit him frequently and he has even been home for a visit - his returning to school was a worry, but he did so without major problem. We miss him enormously, especially since he is some 200 miles from home. But if it is the making of him, then it will all have been worth it. It is perhaps too early to say if we have finally found the ultimate in stability for Joseph. Only time will tell… As we know, everyone’s experience of this syndrome will not be the same as the next. Such is the spectrum.

It has been a long hard road - indeed the hardest of roads. But what has worked for us is having finally put therapy and confidence building at the heart of Joseph’s education. Also, I wish I had trusted my gut instincts much sooner on the mental health front. Deep down, I knew that initial diagnosis was not right. If only we had sought a new diagnosis from someone with more specific knowledge earlier, everything might have been different. Professor Holland’s diagnosis and help changed everything. We all know the expression “knowledge is power”. It seems to me that nowhere could this be truer than in mental health. With proper record keeping over time using mood charts, for Joseph the truth of what was happening was unveiled. Once we had this knowledge Joseph was able to be treated with increasing confidence and certainty.

We wish to pay tribute to Professor Holland, which I have a feeling he will hate. But Tony - I am going to do it anyway! We believe that in Tony, the PWS community worldwide could have no greater champion. He is a unique blend of compassion, generosity, understanding and intellect. His involvement with us was, and is pivotal. I have no doubt that if it wasn’t for him, our lives would still be in chaos. Goodness knows where things may have ended for Joseph and us. We cannot thank you enough Tony.

Wednesday, April 19, 2017

Come, fly with me!



 by MJH
The question of whether certain things are just too stressful for my son with PWS is one that I frequently contemplate.  When is it better to limit his experiences to improve his chances of happiness?  Will repeated exposure to certain stressors really make them easier for him to cope with or do they just condemn him to the same suffering repeatedly?

Flights are a good example.  I never liked the idea of bringing my son with PWS on flights.  The thought of airports delays and changes to routine were enough to turn me off.  Still, airports and flying seemed like something he should get used to so when he was 4 years old we decided to start small.  Very small.  We brought him on a flight to a nearby island.  Total journey time: 5 minutes.  OK, it was not exactly a conventional flight.  For a start everyone had to be individually weighed beforehand so we could be appropriately dispersed to ensure balance in the tiny aircraft.  Also we got to chat to the pilot throughout the flight.  Still, it was a flight and it was successful and we went on to have (and sometimes enjoy) adventures much further afield.  

For the last several years, however, I have come home from each holiday involving a flight vowing "never again".  Up until now the time between the conclusion of one holiday and the planning of the next has always been sufficient for me to forget my past concerns.  Last year's airport meltdown, however, is taking longer to forget.

It began, like so many of its predecessors, when I was particularly ill-equipped to deal with it.  Our holiday routine (mum, dad, 13 year old with PWS and 6 year old sister) is big on the mantra of carers worldwide: we "share the care".   In other words, one parent gets to mind the child with PWS one day and the other child the next (on the second day ice cream gets eaten).  It does mean that mum and dad and the two siblings get to spend very little time together, but we have concluded that this is a price worth paying.

Last year I was minding my son for the outgoing journey when he abruptly stated that he had dreamt our plane was going to crash.  By now we were through security and I was lugging his bipap machine*, along with his various medications, appropriate snacks, activity books and miscellaneous essential extras towards the gate.


I tried reassurance: "lots of people get nervous before flights".  I tried distraction: " you can start your new Sudoku book now if you like".  I may have even tried humour.  But he was having none of it.  Instead he started shouting that by trying to get him to board the plane I was trying to KILL him as he KNEW that our plane was going to crash.  This quickly led him to assert (repeatedly) that parents don't try to kill their children.  Naturally his mind then jumped to the conclusion that I must not be his mother.  Oh no, he was being kidnapped and everyone in the departures lounge was going to know about it.  So there he went, storming ahead of me shouting that he was being kidnapped ("SHE IS NOT MY MOTHER" while I struggled (those bipap machines weigh a lot) to catch up, gather the items of clothing that he was discarding, and prepare the speech I thought I was going to have give to the police.   Of course the airport was also jam-packed with throngs of nicely-dressed and apparently relaxed people who got to observe the lengthy unfolding spectacle. 

While, of course, this falls squarely within the realm of first world problems and is inconsequential compared to what many people have to deal with it, it really was not fun.  And it was probably made worse by my knowledge that it could so easily have been avoided if we hadn't picked a holiday requiring a flight.

Of course I had long beforehand used up my full lifetime quota of embarrassment so that wasn't a problem.  Rather, the problem was that I had also used up most of my energy and quite a lot of my patience too.  

So this year we'll be driving somewhere on holidays. With two cars.  And if the going gets particularly rough whichever parent is "on" that day will be bringing the meltdown straight back home.

Looking back I find the incident more amusing than depressing.  That probably means that by this time next year I'll be ready to attempt a flight again.  Did I mention that when we finally got to our destination last year it also rained nonstop for 3 days out of 5?



 *Bipap machine: for sleep apnoea, used to help breathing during sleep