Michael and Prader-Willi Syndrome

Michael was 6 years old when we first met him and he had Prader-Willi Syndrome (PWS). That was 16 years ago, and it is not an initial assessment/meeting that I am going to forget in a hurry.  Michael was small and compact and very cute.  He had big brown eyes made even bigger by the round reading glasses he wore.  He loved to talk and had asked twenty questions within the first 5 minutes of meeting.  Fair to say I needed a strong coffee and a sit down after that first session.

Prader-Willi Syndrome is a congenital disorder (meaning that you are born with it) and is caused from an abnormality on the 15th chromosome.  PWS typically causes low muscle tone and short stature if the child is not treated with growth hormone.  The child is usually born with underdeveloped genital organs.  The child with PWS usually faces learning difficulties, behavioural problems and motor development delays that can continue into adult life.  People with Prader-Willi syndrome often have obsessive-compulsive behaviour-they may hoard possessions and show repetitive habits such as picking at skin or hair.  Some individuals can be more severely affected than others.

Another heartbreaking symptom of Prader-Willi Syndrome is that food becomes an insatiable obsession.  Although children with Prader-Willi syndrome are always voraciously hungry, they actually require slightly fewer calories than a normal child,  and coupled with a metabolism that utilises drastically fewer calories than normal, it can be particularly difficult to control the child’s weight.  In addition, the child may go to great lengths to get food.  Parents and carers may have to take strict measures to control food intake.  The hyperphagia (extreme unsatisfied drive to consume food) lasts throughout the lifetime. 

Michael had a really sweet and loving personality, which is also typical of children with PWS.  During his initial assessment Michael really challenged our teaching skills.  We found it quite difficult to measure any of his physical capabilities, as it was so tricky trying to keep him on task.  He was very fixated on locks and doors and spent a bit of time trying to go from door to door - to escape we thought!  When we went outdoors for the skills assessment, we had him trapped in a closed and fenced environment.  That was interesting, like watching a miniature burglar trying pick a lock.  After the lock picking, question asking, and concentration span of about 2 seconds of his assessment, I really needed that coffee!

Michael went on to make great progress with us at Heartwell.  He worked with us for about five years finishing when he was about to start secondary school.  He would attend regularly during that time, two sessions a week at 7.15am - while his Dad snuck off for an early morning wake up coffee.  Michael was very rigid is his approach to his program and any deviation or attempt to introduce a new activities was frowned upon.  We had to be very sneaky.  He wanted to ride the bike for 8 minutes exactly and he had to have the blue mat to stretch on.  He had to use the orange ball to catch with and the long red bat to hit with.  Despite all of this, he made excellent progress and over time, and he became much more accepting of new activities and challenges.  He kept himself fit and his weight under control.  He learnt new skills to use in the school play ground.  He had some fun.

A nice post script to this is that Scott ran into Michael’s dad a few years ago at an event.  His dad said how well Michael was doing and how much the family appreciated Heartwell’s early intervention with him.  Despite all those early morning starts, they still remember Heartwell with fondness.  That’s nice. 

Michael 1998.  "I love the blue mat".

Prader-Willi Syndrome Website

Patrick

Patrick is here now, working out hard in the gym.  He is in Year 9 at school and he is about to turn 15 years old.  This is the our fifth year of knowing Patrick and of him attending the Heartwell Foundation.  Boy, has he come a long way in that time.  In many areas.  He is now an absolute pleasure to work with and a great conversationalist.  I think it would be fair to say that his session time here at Heartwell, is mutually enjoyed.  That has not always been the case!

Patrick has Cerebral Palsy (CP).  CP is an umbrella term encompassing a group of non-progressive, non-contagious conditions that cause physical disability in human development.  Cerebral refers to the cerebrum, which is the affected area of the brain and palsy refers to disorder of movement.  CP is caused by damage to the motor control centers of the developing brain and can occur during pregnancy, during childbirth, or after birth up to about age three.  It is a non-progressive disorder, meaning the brain damage does not worsen.

Patrick has spastic diplegic athetoid CP.  This means his lower extremities are affected more than his upper extremities.  It also means by having athetoid CP he has trouble holding himself in an upright, steady position for sitting or walking.  For Patrick it also means he has significant involuntary movements, especially of his legs.  If Patrick’s legs are not strapped into his wheel chair they will kick out.  His feet will be constantly moving and unable to stabilise his body.  He takes medication to help control this movement and at the moment there is a noticeable difference in the “calmness” of his body.

Back to Patrick’s improvement over the years. 

Today a very different boy than five years ago came Through Our Door for his session.  Patrick has grown into an engaging and motivated young man, driven by (in his words) “limitless opportunities”.  As a 10 year old primary school boy he was not always an obliging happy chappy.  What we were asking him to do was, for him, boring, unnecessary and time wasting.  Skill work was hard, arm cranking was even harder, stretching was no fun.  Heartwell’s goal was to find an activity that Patrick could feel successful doing and allow him to be physically active.  We want him to develop a life long love of activity.  Thank goodness for perseverance (on both fronts).

Patrick now attends two sessions weekly with us.  He is concentrating on a resistance training program to develop his upper body strength and endurance.  He does interval work on the arm crank to further develop his aerobic fitness.  He has started to pop some nice bicep/tricep action which we are all quite admiring of.  The days of stalling and questioning seem far away and we are proud of Patrick’s achievements.  Keep going Patrick - onward and upward.

Too cute.  Patrick in 2007

Patrick today working that arm crank.

Today, working those triceps.

Today, pull down.

Cheese.

Today, I am focused!

Jason is a Trooper.

Jason works hard in every session.  He always does his best, tries as hard as he can.  Jason is 9 years old and he has been coming to Heartwell since October last year.  He is a real trooper and great to work with.  He was referred to us by the Victorian Paediatric Rehabilitation Service (VPRS) at Monash Medical Centre.

Jason was diagnosed with a medulloblastoma at the age of 20 months.  Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa.  He had the tumour resected (surgically removed) and then followed a course of chemotherapy, all before he was 2 years old.

Jason is now in remission.  

He now presents however, with a few problems.  He has 20% vision loss in his left eye.  When we met him 5 months ago he had just had his plaster removed and was recovering from a fractured left arm.  One of his personal goals, and that of his physio, was to reduce his constant tripping/falling at school due to his poor balance.  Jason also wanted to feel less tired and fatigued all the time.  He wanted to improve his opportunity to participate in sports and physical education at school.  

There are many things we work on with Jason.  He needs to learn how to hop and skip.  He needs to learn to throw and catch balls, despite his poor vision.  He needs to learn to control his momentum when he is moving and running about.  He needs to learn to track objects as they move towards him.  He needs to learn he can do all these things and lots more now he is being taught.  He needs to improve his confidence.  He needs to learn to believe in his ability and that he can participate and be involved in school sport - so that he will have a go.

In an unbelievable twist to Jason and his parents story of courage and resilience, is the story of Jason’s baby sister, Kelly.  Kelly was 2 years old and two years younger than Jason when she passed away from the same tumour-medullablastoma.  Jason’s parents had two children, both very young, undergoing cancer treatment at the same time.  Apparently the chance of siblings having this same tumour is so rare it’s said to be one in a million.  They are a very courageous family.    

Jason has made good progress and continues to do so.  He is fitter and stronger and we look forward to watching him grow and develop further this year. 

Lets do some change of direction work.

Jason and Scott

Goodbye Bob

Today’s post is about two of our special people whom we have been privileged to work with and get to know over the past decade.

Bob was in his 70’s and had been battling Parkinson’s Disease for over 20 years when he came to us accompanied by his partner Jane back in 2002 and this story is as much about Jane as it is about Bob.

Parkinson’s is a terrible, insidious disease that severely challenges its sufferers and their loved ones in so many ways.  It is a progressive, non curable and frightening disease and reduces strong, active, healthy individuals to require around the clock care.  The nervous system is attacked and gradually compromised and is characterised by involuntarily shaking, ‘freezes’ (where the individual literally freezes in mid action) and hallucinations, often like ‘night terrors’.  The drug regime for Parkinson’s is often a cocktail and its side effects can be brutal.

Bob went through all this beginning over twenty years ago when he was in his 50’s.  With him every step of the way, by his side and always positive and loving, was Jane.  Right from the outset it was evident that Bob and Jane had a very special relationship.  I’m reminded of Forrest Gump when he talks about his relationship with the love of his life Jenny as going together like ‘peas and carrots’.  Bob and Jane were ‘peas and carrots’ too.

Nearly every Friday morning Bob would arrive with Jane for his session with me at the Heartwell Foundation.  Sometimes when Bob was having a bad day, it might take 10 minutes to get from their car to our office door even though they were parked less than 10 metres away.  Sometimes it might take a couple of minutes for Bob to be able to activate the right muscles to walk Through Our Door if he was in a freeze.  Jane would hold Bob like they were about to waltz and would start to sing an old favourite that helped him move forward.

On a good day, Bob’s program was simple; some treadmill, stationery bicycle, arm crank and stretching.  Sometimes it was stretching only on the mat and Bob would fall asleep within minutes.  Sleep was also the victim of Parkinson’s, not only for Bob but also for Jane who kept constant vigil on a nightly basis, checking vitals and drug levels and was there to comfort Bob when the nightmares came or when he tried to sleep walk.

Every session would involve stretching and here Bob could finally let his frantic muscles relax and drift off.  Jane loved to exercise and she would be working hard on the equipment, enjoying the freedom and brief time to herself in an otherwise uncompromising schedule of self sacrifice to Bob.

We talked footy, (Jane and I mad Bombers, Bob the arch enemy as a life long ‘Blue Boy’) politics, current affairs, movies and music.  As is so often the situation in our work I became very attached to Bob and Jane.  They began to feel like family.  They lent their support to me on the passing of my mother 5 years ago.  They took a special interest in our children and their achievements.  They even gave magnificent gardening advice.  Every Friday session would finish the same.  Bob on the mat, with Jane leaning over, kissing his cheek and saying “Bob darling, time to wake up”.  More than once I had to blink away a tear as I witnessed how much love Bob and Jane had.

Parkinson’s is relentless and last week Bob passed away with Jane and his family right there.  In all the time we spent together, never once did I see Bob complain, never once did I see Jane as anything other than positive. Like ‘peas and carrots’ every Friday up until recently, it was Bob and Jane and I genuinely loved our time together.

Like so many of the Heartwell family, Bob’s photo hangs in the gym, overseeing all that is going on and we will miss him and always remember him with affection.

Vale Bob Jones.  Viva Jane!  

(Today written by Scott Taylor)

Autism Spectrum Disorders

There has been many challenges and many rewards for us working with children with Autism Spectrum Disorders (ASDs). At the Heartwell Foundation many children with this diagnosis have come Through Our Door. ASDs are lifelong developmental disabilities characterised by marked difficulties for children in the following:

Social deficits
Communication difficulties
Stereotyped or repetitive behaviors and interests
Sensory sensitivities
Cognitive delays.

The word ‘spectrum’ is used because the range and severity of the difficulties people with an ASD experience, can vary widely. ASDs include Autistic disorder, Asperger’s disorder and Pervasive Developmental Disorder.

Research shows that about 1 in 110 children have an ASDs and that it is more prevalent in boys than girls. This is the case for the children “on the spectrum” who have come to us for a specialised Physical Education program. Over the years there have been many more boys than girls. There has also been a noticeable increase in the number of children referred to us with a Autism Spectrum Disorder in the last ten years.

The challenge for us at Heartwell is to adapt our programs so that the children with extreme examples of the above characteristics get good outcomes in their sessions. Our sessions by nature are very hands on and can often include a lot of touching and moving and turning of the children as we are teaching skills. This can be NOT fun for those children with high sensory sensitivity. As the teacher, let me tell you, you only need to forget that once and usually you wont need to be reminded again. The child somehow lets you know!

The rigid thinking and communication difficulties can also be a fun challenge. It takes a lot of negioation skills, patience and sheer cunning to get some of these children to do the things you would like them to attempt. If their mind is made up and they don’t feel confident to have a go, then steely perseverance is required by us. Some kids can get fixated on the one activity or thing they like most. That was the case with Andrew, for whenever he came for a session he would demand to play Basketball. We had done a bit of Basketball with him and he felt confident with the skills. Whenever we tried to teach him other skills, he would cry and carry on. We had so much more to teach him, but I can assure you in the end a great deal of each of his sessions involved Basketball drills (with a healthy mix of what we really wanted him to do)!

Then there was Steve. When we first assessed him for his program his mother mentioned he had a fixation on washing machines. It did not seem all the relevant to us for our work on his skills and fitness. It did however become relevant very quickly. For whenever Steve arrived he would rush to every door/exit looking for the “washing machine”. We learnt never to put a load on when Steve was due to arrive.

Then there was Neville. He had an amazing memory for dates. His social skills were quite good in a closed and controlled environment. He generally liked to speak to people-especially adults. His number one question was to ask of your birth date. Then he would recall it at every session. And he would tell you when you were born and he would tell you how many more days till your next birthday. And how many days since your last birthday! And how many birthdays you have had! Luckily he couldn’t tell you when your very last birthday would be (not at least, at the time of writing). He was quite amazing and a lots of fun.

We are so fortunate to have worked with these special kids.

Absent Friends

Sadly we have had some very sick children participating in Heartwell Foundation programs over the years.  These are children with tumours and cancers.  These children when they are referred to us, turn up our at door looking pale and fragile and unwell.  Often these children have had previous treatments of any combination of surgery, chemotherapy and radiotherapy.  They are coming to us to regain some strength and condition.  In some cases the children may have missed prolonged periods of school and have big gaps in their motor skill development.  In some cases they just need some activity which is fun to help get them back into the swing of things!

For us and I’m sure for these children’s families also, their child participating in a specialised Physical Education program is seen as a very positive step forward towards good health.  We at Heartwell tend not to think that anything bad could happen. 

For most of the children that is the case and their health builds on an upward curve.  

Sadly however there have been occasions where this has not happened, and some of the beautiful little children we are working with, have passed away.  It is difficult to articulate how distressing this is for us at Heartwell.  Usually with most of the children who come Through our Door we form a tight or special connection.  This is reasonable when you consider that we usually work with a child in a one on one situation during a couple of sessions per week.  In that time we often get to know the children quite well, we become friends.  We get to know their families.  Close relationships are forged. 

None more so then when we know that how sick a child with cancer has been.  The need to protect and help is very strong.  Respect is really all you can feel as you watch that child try as hard as they can to complete tasks.  The happiness as you observe improvements in skills or activity tolerance.  Then the absolute shock and disbelief when you are told the heartbreaking news that the cancer is back.  The sudden switch in our Heartwell program focus from teaching/developing to now having fun and playing.

There is nothing sadder than attending a child’s funeral.

I thank all the Heartwell families over the years who have allowed us to work with their children.  I am especially respectful to the families who allow us to spend such precious minutes with their child as they battle such illness.  To those who have passed away, thank you for the privilege of getting to know you and for ever becoming a friend of Heartwell and Scott and myself.