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