Tom's Adventures in Mainstream: eight tips for better school inclusion of pupils with special educational needs and disabilities

                                                              

When Tom was nine he left his mainstream school and started at a special school.  While we’re delighted that Tom is now in what is a more enabling environment for him, we’re reflecting on how Tom’s experience in mainstream could have been more inclusive.  The mainstream school was keen to be inclusive:  the Head teacher had a wonderful attitude and knew and loved all the children in the school.  Socially, ethnically, and on behaviour issues the school did seem to be very inclusive:  what could they do to include children with Special Educational Needs and Disabilities (SEND) more successfully?

Before listing what I think are the top eight tips for more successful inclusion, first a bit about Tom himself.  Tom's condition, Duchenne muscular dystrophy (Duchenne or DMD for short), means he has weak muscles, poor balance, and poor coordination – he can’t run and writing by hand is laborious and difficult for him.  He needs various adaptations to help him sit and write, including a keyboard. 

Many children with DMD also have cognitive difficulties, summarised by difficulty processing information.  Like water on clay soil, information takes longer to absorb and too much information at once is overload.  Anything which needs a lot of process – like joining up letters to read words – is difficult for Tom, thought he can tell you loads about many subjects and has a lively curiosity.  You can appreciate the challenges for a child like Tom in mainstream:  taking in teachers’ instructions, recalling vocabulary, other children’s fast-moving games and social interaction, dealing with transitions from one task to another and the hustle and bustle of the school day, and most significantly how Tom learns and the pace of his learning.

What can be done to address better the needs of children like Tom in mainstream?  Well, an education revolution so all classes and schools are much smaller, with a higher ratio of teachers to pupils, would help, though that would not in itself be sufficient.  In my view, eight tweaks even to the current system would effect significant improvements.

1.    Enough Special Needs Co-ordinator (SENCo) time

In my son’s mainstream school there were over 400 pupils and a more than average proportion of pupils with special educational needs, including pupils with Down’s Syndrome or on the autistic spectrum.  But the Special Needs Co-ordinator (SENCo) was there only two days a week.  There needs to be enough time for the SENCo to work with teachers and teaching assistants (TAs), time for the SENCO to follow up and evaluate the success of teaching strategies, time for the SENCo to go into classrooms to observe pupils, time for the SENCO to get the advice that they may need, time for the SENCo to liaise with outside agencies.  In our case none of these things were happening to the extent that they needed to happen.  For example, it was me, not the SENCo, who met with the local authority SEN ICT advisory teacher to get some ICT resources for Tom’s computer, resources which could also help other pupils. 

2.    Time for teachers and teaching assistants (TAs) to plan together

Tom’s TA would have about thirty seconds between hearing the teacher’s instructions for the class and starting work with him, to take in the learning objective and task, decide how much of the task Tom could engage with, how to break the task down into more manageable chunks, and what, if any, alternative strategies or resources to use.  Without planning ahead of time it was extremely difficult for Tom to do differentiated tasks with other pupils.  As you’ve probably guessed, I have a teaching background and the year I learned most was when I planned together with a TA.  We both worked part time and had our planning meetings in unpaid time.  We should not have had to do that:  contractual time should be scheduled for such meetings.

3.    Adequate training for class teachers to support pupils with SEND

It is crucial for classroom teachers to have adequate special needs training, because in the current system the usual chain of command is that the classroom teacher tells the teaching assistants on a daily basis what they need to be doing with their pupils with special needs.  The SENCo is there to support, to offer ideas, and to help evaluate strategies (though in our case there was little evidence that this was happening).

Teachers need to be more trained in concepts such as task analysis, backward chaining, and differentiation.  For example, Tom’s class had to do ‘free writing’.  So Tom was given a pencil and paper and ‘freedom’.  His teacher told me afterwards that he ‘made some marks and wrote the word ‘the’.  Tom would certainly have had plenty in his mind to write about, so why couldn’t his free writing have been more supported?  .  Why could he not have used a keyboard?  And an ICT programme to prompt him with the sight words he knew?   Both of these resources were sitting in the stock cupboard.

If the teacher had been adequately trained she would have seen that what she had done here was differentiation by outcome – in other words, throw the children in at the deep end and those who succeed are those who make it to the shallow end without drowning.

4.    Adequate training for special needs teaching assistants (TAs)

Teaching assistants need to have adequate training to carry out the tasks they are expected to do. They need to be trained in the pedagogical concepts which underpin their work with pupils with SEND, because they are the ones who work with pupils day to day, the ones who on a daily basis are fine-tuning teaching strategies, evaluating them and looking at next steps at the micro-level. 

Though the chain of command is from class teacher to TAs, the remit of the class teacher is the whole class.  While the teacher may have the big picture, in our experience class teachers don’t have the time to plan and evaluate in detail the work for pupils with special needs – it’s the TAs who have the day to day picture and the teacher needs the feedback from them.

When teaching assistants don’t have sufficient grasp of their work, it is letting down our children with special needs and also the teaching assistants themselves.  Many TAs are parents.  They feel strongly the importance of giving children the best possible start in life; they want to help provide that for their pupils.  How can they undertake complex teaching tasks to support the learning of pupils with special educational needs if they don’t have adequate training?

5.    Information and computer technology

Have computers and programmes more readily available in classrooms and ensure that SENCos, teachers, and TAs have working knowledge of SEND-supportive programmes.  By SEND-supportive programmes I mean ‘shell’ type programmes which are designed to be tailored to individual pupils’ learning and physical needs, not ready-made activities you can just put pupils in front of.

There was a long saga in trying to get a computer for Tom at his mainstream school.  Finally my brother stepped in and got us a laptop.  We bought the Clicker and Clicker Paint programmes for it.  Then there was another long saga in making sure the teacher and TAs were confident to use the computer, with me going in several times to talk them through it.  The local authority Physical Disabilities Support Service was great, going into school numerous times to train and support.

6.    A curriculum which allows for a variety of learning styles

When Tom was in Year One his mainstream school had poor results in literacy.  So the following year they instituted a school-wide phonics programme.  This was an improvement – a systematic approach to literacy which mapped the territory.  But it was inflexible.  And Tom’s Year Two teacher was inflexible.  At the start of the year she told me that to learn to read ‘you go from letters to words to sentences’.  Readers do need to learn phonics at some point, but it doesn't have to be the initial approach to reading and it doesn't have to be the only approach to reading.  Phonics is process-intensive, which is Tom's cognitive weakness, and it doesn't use his strengths, such as visual memory.  Progress was extremely slow.  To address this the SENCo prescribed an extra fifteen minutes per week of phonics.  Not analysis of Tom’s difficulties and lateral thinking about solutions, just more of the problem.  

The children learned phonics through worksheets.  In Year Two Tom spent at least two terms doing handwritten worksheets overlearning letter-sound correspondence.  He began to hate school.

Though the endless worksheets were heart-sinking, Tom did end up knowing his letter sounds.   At home we started teaching him sight words – ‘word of the week’ – and with this and his knowledge of letter sounds Tom began to read.  Excitedly he would ask ‘what is the word of the week this week?’ and suggest words that he would like to learn to read.

While phonics was taught in each classroom, outside in the corridor, by coincidence right outside Tom’s classroom, was the makeshift base (made of display boards) of the Reading Recovery teacher.  Reading Recovery is a one-to-one multi-approach pupil-centred reading programme, designed to accelerate learning for pupils experiencing literacy difficulties in the mainstream classroom. 

In Year One I asked the SENCo if Tom could join the pupils on the Reading Recovery programme.  No, she said, he’s too old.  Couldn’t the TAs have some training in Reading Recovery?  No, it’s a year-long intensive training course.  She did later try to get Tom on the programme, but didn’t chase it up and nothing came of it.  In the meantime I went to the local university’s education library and after the equivalent of about three working days with the key book had a summary of Reading Recovery – enough to cover its basic principles.  With the support of Tom’s Year One class teacher I gave this to his TAs.  It was difficult for the class teacher to give input to Tom’s learning because she was incredibly busy, having just been made Key Stage One co-ordinator and PE Co-ordinator.  Tom’s TAs had little training, no time to plan, and apparently no SENCo support and in those circumstances it was difficult for them to put the Reading Recovery approach into action.  In Year Two the class teacher was slave to phonics alone (though towards the end of the year she did begin to acknowledge the sight word approach).

7.    Appropriate accommodation for pupils with SEN

In Tom’s school, pupils with SEN often worked with their TAs out in the corridor, with the attendant noise and distraction.

8.    Challenging an unthinking culture of discrimination

At a meeting of the school’s disability equality working group I raised the point about the accommodation for pupils with SEND.  One of the school’s governors said ‘Accommodation is always a problem – always has been and always will be’.  I said ‘Maybe you’re right – and if it’s a problem, how about the top groups learn in the corridor and pupils with special needs learn in quiet classrooms?’  She looked stunned at this suggestion. 

At one point I went in to observe for a morning in Tom’s classroom.  When the class split for a task into lower and higher attainment groups, it was the class teacher who took the higher attainment group, while the TA – without teacher training and paid less – took the children who were more vulnerable and who had more complex and challenging learning needs.

Tom’s class had an overnight school trip to an outdoor activity centre – and the letter from the school said that they would like to take all the children.  Tom’s teacher did not book accommodation for him, accommodation which included an overnight carer and which met health and safety regulations for a pupil with reduced mobility.  Was this just forgetting, or an assumption that Tom, being disabled, wouldn’t take up his curriculum entitlement or share the aspirations of his peers?

Conclusion

In our experience, these are eight issues which need to be addressed, eight tweaks which could be made in the current mainstream system to improve inclusion for pupils with special educational needs and disabilities.  In Tom’s mainstream school they were the key ways to translate into inclusion the wonderful, genuine, and laudable love which Tom’s Headteacher had for the children in the school. 

Some of these tweaks are about money:  paying for SENCO, teacher, and TA time and training.  Some of them are about good pedagogical practice:  having the concepts to support pupils with special needs and the curriculum to nurture a range of learning styles and enable pupils to use their strengths to overcome their difficulties.  Some of them need funded local authority support to provide continuing professional development and specific training. 

But the really key issue, the foundation of all inclusion, the driver of all practical measures, is a school culture which recognises the equal aspiration and entitlement of all pupils and is committed to solving or working round any problems which may arise.

And a final note:  on Tom's final day at that school, he brought all his accumulated phonics worksheets home, a great big telephone directory sized pile of them.  He put them in our wood burner. I helped him light the  match and he burned them all.

DMD life expectancy, and talking about it with a child living with DMD

A week ago we told eleven year old Tom about the life-shortening aspect of Duchenne muscular dystrophy.  This was a conversation we had been anticipating and dreading ever since he was diagnosed with DMD aged four.

It was on Saturday morning, after we had had a nice time looking at a book together, and before breakfast. Tom and I were sitting on the sofa.  I said, 'There is some more you need to know about Duchenne, now that you are getting into the teenage years.  Most people with Duchenne live to around thirty years old.  But the scientists and doctors are working hard to find effective treatments, so people with Duchenne can in future live longer lives.'  Pause, while he took this in.  Then:  'It's important that you have accurate information, because other children might look up things about Duchenne and say things to you that may not be right. You can say to them, 'Most people live to thirty and scientists and doctors are working hard to find effective treatments, so people with Duchenne will be able to live long lives'.'

Tom said 'So most people with Duchenne live to thirty...'  and I finished off '...and scientist and doctors are working hard to find effective treatments, so in future people with Duchenne will be able to live long lives.'


Tom then said 'You don't have to rub my feet when we're talking about Duchenne'.  I realised that I had been mechanically massaging Tom's foot as we had been speaking.  Then he said 'Can we have breakfast now?'

It was clear that Tom had taken in the basic message, but also clear that it was something he would absorb over time.

There were quite a few things we considered in the background to this conversation.

One was the principle:  tell the truth, but be positive.  What we told Tom is the most positive spin on the current situation. Thirty is to my knowledge the average life expectancy for people in the UK getting good standards of care.  And there is a lot of research going on;  the message is one of hope.

Another was the timing and who would tell him.  It needed to be a quiet time, when Tom would be fresh, and when he would have some time after the conversation to take it in.  Tom's dad and I decided that it would be one of us, not both, who had the initial conversation, to keep things low-key.

Another consideration was the fact that we had given Tom information about DMD over years preceding this, in a 'drip-feed' way, responding to his own questions and observations.  He already knows about the things he has observed and he has asked questions about DNA and dystrophin.  However, this conversation was different.  It was different because it did not arise naturally from something he himself had observed (such as older boys using wheelchairs full time) and it was always - obviously - going to be outside our comfort zone as parents.  How far it is outside Tom's comfort zone I don't know.  I don't think being thirty - or dying - is something that he can envisage at the moment (though it will be as he gets older).  He has met lots of scientists at the Action Duchenne conference and he is on a clinical trial, so the current work on effective treatments is within his existing experience.

It is very difficult to give this information to kids so young.  What made us have the conversation now is that Tom is in contact with other children who can look up DMD on the web.  We needed to tell him before he heard from other, possibly inaccurate or hurtful, sources.  We are lucky in a way that we were able to wait until he was eleven.  Tom's DMD-related information-processing difficulties mean that his literacy is still too limited for him to look up DMD himself; also he attends a special needs school where most of the other kids are unlikely to look it up either.  But just this year his social horizons are expanding and he is additionally spending time with other children in mainstream settings.

A further consideration for us was the impact on the rest of the family.  Before we had the conversation with Tom we had to think about how we as parents are handling these huge and difficult issues; what are our different attitudes, how can we communicate about them, how can we agree a way forward?  What is the impact on our emotional health of dealing with the fallout of information?  We didn't know how Tom would respond; would he be traumatised and how would we as parents cope with that and best support him?  Clearly we need to keep listening and supporting Tom in whatever way is helpful to him as he absorbs the information. As Tom is an only child we didn't also have to deal with the possible impact on siblings.  But grandparents and other people close to Tom will need to be in the picture about what he knows and about ways to support him. And these are of course huge issues for them to take on too.

Over the past year or so we have consulted the children's psychology service at our local hospital, who have given us a lot of help and support to handle these issues.


Another background consideration is having plenty of positive, affirming, self-esteem building things going on for Tom as well as this difficult information.  To make sure good things are happening, things where Duchenne is not invited.  Some examples:  Tom has fun at an art club, at the moment he's loving mixing colours and experimenting with fabric dyes.  He loves acting too, making up stories, putting on funny voices, being different characters, and hanging out with other kids who love all that stuff too.  Recently we've got a dog; she's a wonderful friend and it's satisfying and good fun training her.  We make photo albums of all these good things Tom does.  We are upfront about his qualities as a people person, a creative person, and some one who enjoys getting out and about and finding out about the world.

It's a relief to have all the information about DMD in the open, and not feel that there is something we fear Tom finding out.  But it was also traumatic to have the conversation.  The afternoon of that Saturday we went to a party.  I was in a bit of a daze.  Looking around at those other people there I just wanted to shout 'This morning I told my son his condition is life-shortening, oh god, oh god, oh god'.

Steroids and Duchenne muscular dystrophy - our family's experience

Ten days on and ten days off or full-time?  Prednisolone or Deflazacort?  What are the issues with weight, height, puberty, growth spurts, scoliosis, bone density, behaviour management, diet???  These are the questions and variables concerning steroids which face parents of children living with DMD.  Here I would like to share our experience of steroids, for the light it may cast on these questions.  It is a layperson's account, hopefully giving some idea of one family's lived experience of using steroids.  Anyone looking for advice on steroids for DMD should consult their specialist neuromuscular consultant.

When our son Tom was five he went on to Prednisolone ten days on, twenty days off.  We soon upped that to ten days on ten days off.  There would often be behaviour issues towards the end of the ten days on.  Tom is now on daily Prednisolone and the behaviour issues are more frequent and more easily provoked.

The behaviour issues were - and are - heightened reactions to frustration and uncertainty.  There are outbursts:  Tom will cry and shriek and not respond to reason at all.  These outbursts can last a couple of minutes or half an hour depending on how tired he is.  In Tom's case the steroid reaction is on top of difficulties with mental flexibility common to some children with DMD.  Tom finds it difficult to hold two thoughts in his mind at once or switch from one to another quickly - his thinking tends to be 'black and white' and any kind of uncertainty means that he is trying to juggle two things in his mind and as a result he heads into meltdown.

We deal with this by having very strong routines and trying to keep things as calm as possible.  However, that can't solve it all.  The most simple-seeming conversation can get into meltdown territory.  For example, recently Tom was talking about where pancakes come from, and that there are French pancakes, American pancakes, Chinese pancakes.  He asked me whether English pancakes come from France.  As I wasn't able to give an immediate and categorical answer he got increasingly frustrated, ending up shouting at me, 'Do English pancakes come from France YES OR NO???'

In September 2012 when Tom was eight his mobility started to decline more rapidly.  In the November we found out that the final clinical trial for Translarna (Ataluren as it is on the trial) was due to start some time in 2013 - a drug for which Tom was eligible.  If Tom was to have a chance of being recruited to the trial he would have to be ambulant.  We were scared stiff he would lose ambulation before the trial start date.

So we decided to increase to daily steroids to try and prolong walking as long as possible.  When I say 'we decided':  it was a massively stressful process with inadequate support from specialists.  Our consultant was extremely busy and unavailable to consult with us between our scheduled six-monthly visits.  So awaiting an email response from our specialist we consulted a paediatrician.  As a non-specialist he was frankly horrified at the idea of such a high steroid dose and went through all the possible dreadful side effects - fractures, diabetes, cataracts, stomach ulcers etc etc.  The meeting with him was so stressful that I had the experience of my mind detaching and looking down at myself sitting in the consulting room.

Afterwards on the internet I looked up what the leading Duchenne specialists say about daily steroids.  The most helpful was www.newcastle-hospitals.org.uk/services/northern-genetics_treatment-and-medication_steroids-and-duchenne-muscular-dystrophy.aspx.  I gleaned that the jury is out on the best dose regime, that there is roughly a 50% split between clinicians on prescribing daily or intermittent doses, that a research study was at that time about to start on the question of steroid dosage, and that the mean age of loss of ambulation for children with DMD who took daily steroids from age 5 was 14.5 years, as opposed to 12 on intermittent and 10 without steroids.  One phrase from a clinician stuck in my mind:  'I hate steroids, but I hate DMD more'.

When our consultant eventually replied to our email he said that he favoured the intermittent regime as it had far fewer side effects, but if we wanted to go on to daily he would go with that.  Nobody told us at that point it would be difficult to go back from a daily to an intermittent regime.

We consulted Tom. This built on years of drip-feed information we had given him about DMD.  He knew his muscles were getting weaker.  He was also aware that boys with DMD tend to start needing a wheelchair full time in Year 7 or Year 8 at school.  At nine years old he had the maturity and information to be able to think about what daily steroids would mean.  He was able to understand both that the steroids caused the shrieky behaviour and that he would have to move from a low-calorie diet to a lower-calorie one to control weight gain.   He also understood that being on the Ataluren clinical trial might slow the muscle wasting and help him keep walking.  Given the choices, Tom opted for daily steroids.

This was in April 2013.  A weight check in July showed a rapid weight gain - from 30 to 33 kilos on what we considered to be a healthy low calorie diet.  The diet then got even lower calorie, Weight-Watchers gone mad.  It was do-able, just.  Result:  after a further two months a visit to the dietician revealed that Tom had lost three pounds and the dietician was happy with the diet from a nutrition point of view.  We were able to ease up a tiny bit.

It has been challenging to maintain the very low calorie diet in the long term.  However, Tom's rigid thinking has been an advantage here.  Just brainwash him that junk food is dreadful, and that he is making positive choices to stay slim and healthy, and he is on-side, railing against the evils of junk food.  Tom's Dad and I have more difficulty.  On holiday each of us slopes off sometimes to 'browse in the bookshop' - code for going off for cake, ice cream, or fish and chips.  Tom does have a day off every couple of months to have whatever he wants.

Fractures are also a worry.  We take Tom swimming a lot and try to avoid exercise where there is more of a risk of falls.  Tom takes vitamin D and calcium supplements (Fultium 800mg and Calcichew D3).

In terms of growth, there was almost no increase in Tom's height from September 2013 to October 2014.  He has grown a bit since then, but the trajectory is that from an average baseline he will be close to the bottom centiles on height by the time he is fourteen if he stays on daily steroids.

We hoped that once past the trial, Tom would be able to revert to the intermittent dose regime.  But the advice to us now is that to do that Tom would have to go down to zero steroids, then build up again.  With him entering the growth-spurt years, loss of mobility now could lead more easily to scoliosis.  However, what can be done is keep the steroid dose steady, so as Tom grows the dose will get proportionally less.  We brace ourselves to continue to ride the steroid outbursts; to try to balance Tom's need for exercise with protecting him from fractures; to keep on the diet.

In my experience of steroids, what I have found most helpful is:  getting Tom used to healthy eating from the word go (and fighting the battle with well-meaning givers of sweets); being able to consult a dietitician who understood the challenges of steroids; and behaviour management techniques including getting enough sleep myself in order to stay calm, and the technique of 'collaborative problem solving' from psychologist (and dad of a boy with DMD) James Poysky (for a useful summary of this approach google Opposition and Aggression Parent Project Muscular Dystrophy).

Adaptations to make our kitchen wheelchair-accessible

Two major things happening this week.  One is huge in the big scheme of things:  Tom is taking part in a clinical trial.  Tomorrow he has his first appointment since being recruited.  The whole issue of taking part in a clinical trial will be the subject of a number of forthcoming posts.  Today I want to focus on the second thing happening this week, which is possibly lesser in the big scheme of things, but very preoccupying right now:  next Monday all hell breaks loose as the builders arrive to adapt our kitchen to be wheelchair accessible.

In this post I'll outline the key things we took into account when planning the kitchen, and the support we're getting from the council.

In a future post I'll write about the much bigger adaptation we have already done, to put in a downstairs bedroom and bathroom.  I'll also publish the talk I was asked to give to our local team of Occupational Therapists, on a parents' perspective on Occupational Therapy.  This focused primarily on adaptations in the home. 

First a quick diary update.  Still haven't rebooked Tom's appointment with the neuromuscular consultant.  The school meeting went well - things not completely sorted but better than they were.  The negotiations with Tom about pants reached a compromise:  Tom is in long johns.  I think he is finding it more difficult to manage when he goes to the toilet.  He doesn't want anyone to go with him.  Long johns are easier to manage than pants.  All part of  Tom quietly getting his head around decreasing mobility (he is ten and a quarter).

The kitchen:
The deal with the kitchen is that Tom needs to be able to prepare, or help prepare, simple meals, and generally be able to access the kitchen and its appliances.
Therefore we need enough space for the wheelchair to get in and out of, and around, the kitchen. 1500mm will give enough space to back and manouevre the wheelchair.  1700mm would be a full wheelchair turning circle.
We need worktops, a hob, and a sink unit with space underneath, so a wheelchair user can use the worktop.  Ideally we need an L-shaped worktop, so Tom's arms can rest on each side.  We need an oven at a height Tom can see into, with a pull-out shelf below.
At this point in time, when Tom is still ambulant but in danger of falling, we need a super-non-slip floor.
Accessible wall units we just gave up on.  Tom won't have the arm strength to utilise these in the future.

To get the wheelchair space we are taking out one kitchen cabinet, and replacing it with a 300mm wide shelf.
The worktops, hob, and sink unit we are getting from Howden's, who have branches around the country. The oven also comes from Howden's.
We've thought long and hard about whether to get a height adjustable sink and hob, and have decided yes. It's essential so that both Tom and his dad, B, who doesn't use a wheelchair and is around 5'10", can both use the kitchen.  However, it'll add about £2000+ onto the bill.

The floor is from the Altro range.  We also looked at the Tarkett range (formerly known as Marley I believe).  Both do very non-slip floors.  The colour I want is called 'Tree Frog'.  B said it looked like frog vomit.  I said that was fine, as when he looked at it and threw up, the vomit wouldn't show.  We left it there. (B did say he would stop noticing it after a while.)  I've ordered Tree Frog.

The local council is paying for anything that Tom needs for access and to use the kitchen to prepare or help prepare simple meals.  So they are paying for some doors to be widened, for the worktops (but not the rise and fall mechanism, or the hob as Tom is still a child), and for the flooring.  They are also paying for the cabinet to be taken out, and for the washing machine to be moved to another room.

I think it helps that we are doing this work right at the end of the financial year.  For some reason, incredible to me in this time of austerity, it seems the council have money they need to spend before the end of the financial year.

The key player in the kitchen adaptations is our Occupational Therapist.  She has advised us throughout and also advised the council.

Two very useful resources are the Muscular Dystrophy Campaign's house adaptation manual, and also Portsmouth City Council Occupational Therapy service, who have produced a very useful guide.  Google 'portsmouth.gov.uk design guide for wheelchair accessible housing'.

Welcome, and a beginner's guide to DMD

Welcome to Diary of a Duchenne Mum!

I could plunge in the deep end, and tell you about the multiple things I'm dealing with today:  chasing up the neuromuscular consultant to rebook an appointment for T; replying to the contractor who has just sent us an estimate for making adaptations to our kitchen to make it wheelchair accessible; preparing for the meeting with T's special school tomorrow; negotiating with T on whether he wears pants today....  These are all posts in their own right, and I'll get to them all in turn in the next days and weeks.

But first, to introduce us:  I'm in my late forties and live in the UK with my husband B and our ten year old son.  Let's call him Tom.  I'm keeping the blog anonymous, partly to protect our son, but also because I want to be able to be completely honest and tell it like I experience it.  Tom was diagnosed with Duchenne muscular dystrophy five and a half years ago, when he was four and a half.  We have been on a Duchenne journey ever since.  Of course, having Duchenne is just one thing about Tom.  He's also a sparky, imaginative, sociable, loving kid who's got loads of ideas and interest in the world, and is out there living life to the full.

Over the years of the Duchenne journey so far, I've written a number of things about Duchenne for a wider audience.  To kick off this blog, here is the one that sets the scene of what Duchenne muscular dystrophy is:  a beginner's guide to Duchenne, its causes and potential treatments.    

Duchenne Muscular Dystrophy: 

a beginner’s guide to its cause and potential treatments

What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is a progressive muscle wasting condition.  It is relatively rare - roughly one in seven thousand births – and affects mainly boys. 

People with DMD gradually lose strength in the skeletal muscles.  Later the heart and respiratory muscles are involved.  DMD does not affect continence, speech, or eye movements. 

On average boys with DMD begin to need a wheelchair full time between the ages of eight and twelve.

Life expectancy when DMD is untreated is around nineteen years.  With specialist care management life expectancy can rise into the thirties and even forties.  Work being done on potential new treatments gives realistic hope of even longer lives for the current generation of boys growing up with DMD – the hope that DMD might become a long-term manageable condition.

What causes Duchenne muscular dystrophy?

Lack of a crucial protein called dystrophin:

To work, our muscle cells need a protein called dystrophin.  Dystrophin is crucial for holding muscle cell walls together.  It is like scaffolding for the cell wall.  It holds in place a number of other proteins which all help the cell wall work properly.  Dystrophin is also like a shock absorber.  It is springy.  This enables muscle cells to absorb impact without getting damaged.

People with DMD do not have any dystrophin in their muscle cells.

Why do people with DMD lack dystrophin?

In every cell of the body there is an instruction book called DNA.  It is made up of chemicals and those chemicals act just like letters and words.  DNA contains instructions for the body to make everything it needs to grow and to maintain itself, including dystrophin and thousands of other proteins.

DNA has twenty two chapters plus a chapter called X.  The scientific name for these chapters is chromosomes.  In chapter X there is a paragraph giving the instruction for dystrophin.

Imagine that you are in a muscle cell.  In this imaginary cell you are going to use the DNA instruction to make dystrophin out of Lego bricks.  You turn to the paragraph in Chapter X and you read this instruction:

            Start with blue brick then green brick then blue brick then

red brick yellow brick red brick yellow brick red brick yellow brick

red brick yellow brick red brick yellow brick red brick yellow brick

red brick yellow brick red brick yellow brick red brick yellow brick

blue brick green brick blue brick.

Fine:  you make dystrophin.  But imagine that you turn to the dystrophin paragraph and instead get this instruction:

            Start with blue brick then green brick then blue brick then

            rbr ickye llowbr ickre dbr ickye llowbr ickre dbr ickye llowbr ickre

dbr ickye llowbr ickre dbr ickye llowbr ickre dbr ickye llowbr ickre

dbr  ickye llowbr ickre dbr ickye llowbr ickre dbr ickye llowbr ickbl

uebr ickgr eenbr ickbl uebr ick.

The instruction is unreadable.  You can’t make dystrophin.  Two letters have been missed out.  The words are all of the right length.  The other letters have shunted up, in the place of the missing letters.  The result is gobbledegook.

Now imagine that you turn to the dystrophin paragraph and instead of the previous examples you get this instruction:

            Start with blue brick then green brick then blue brick then

            red.

There is a full stop before the instruction has finished.  You can’t make dystrophin.

If the body can’t make dystrophin, the muscle cell dies.  The long term effect of this is that muscle fibre degenerates and is replaced by fatty tissue.

 What I have outlined here are the two kinds of mistake that can occur in DNA instructions.  In about 85 – 90% of DNA mistakes, letters are missed out or added.  In about 10 – 15% of mistakes, full stops are put in before the end of the instruction.  When these mistakes happen, the body can’t follow the instruction and can’t make the protein.

These two kinds of mistake can happen anywhere in the DNA instruction book.  Depending on where they are they cause different conditions.  Haemophilia, cystic fibrosis, some forms of sight loss, and predisposition to certain cancers are all examples of conditions caused by DNA mistakes.

The body does have a back-up plan.  Girls get a full copy of the twenty-two chapters plus chapter X.  Every cell contains two full copies of DNA.  If there is a mistake on one copy, the body can use the other copy.  Boys get a copy of the twenty-two chapters, but instead of a second chapter X they get chapter Y.  Chapter Y contains instructions for making testicles, but it doesn’t contain the instructions that are in chapter X for making dystrophin and some other crucial proteins.  That is why it is usually only boys who get Duchenne muscular dystrophy. 

How are scientists tackling Duchenne muscular dystrophy?

Scientists are exploring a number of ways to tackle Duchenne muscular dystrophy and turn it into a manageable condition.  The main approaches are listed below.  Different research projects are at different stages of development.  We are looking at a time scale of five to ten years for research to produce the first treatments.

Target the DNA mistake

Exon skipping targets DNA instructions which have been turned into gobbledegook.  It cuts letters out of the faulty instruction so that the letters get back in the right place.  In the example here, you could cut the underlined letters to restore a readable instruction:

Start with blue brick then green brick then blue brick then

            rbr ickye llowbr ickre dbr ickye llowbr ickre dbr ickye llowbr ickre

dbr ickye llowbr ickre dbr ickye llowbr ickre dbr ickye llowbr ickre

dbr  ickye llowbr ickre dbr ickye llowbr ickre dbr ickye llowbr ickbl

uebr ickgr eenbr ickbl uebr ick.

You would not get full dystrophin but it would work.  Duchenne muscular dystrophy would become a milder condition called Becker muscular dystrophy:  still muscle degeneration, but usually much less severe and life-shortening than DMD.  A number of scientists are working on exon skipping, including Matthew Wood at Oxford University in the UK and Steve Wilton in Perth, Western Australia.

Ataluren is a drug which targets premature full stops.  It aims to enable the body to ‘read through’ the premature full stop.  In cases of premature full stops, the rest of the instruction is there, but the body does not read it because it stops at the full stop.  Ataluren could potentially restore full-length dystrophin.  It is being trialled by an American pharmaceutical company called PTC Therapeutics.

Bring in dystrophin from outside the body

Adeno-associated virus vectors (AAV):  this approach uses empty virus ‘shells’ to bring dystrophin into the body and transport it to every cell.  There are two main difficulties which need to be overcome here.  The first is that dystrophin is very big, as you would expect of a protein which is a cell wall scaffolding and shock absorber – too big to fit into viruses without being modified.  The second is the problem of immune responses by the body to incoming viruses.  AAV is being explored by Keith Foster at Reading University in the UK.

Replace dystrophin with another protein

Utrophin is a protein which does the same job as dystrophin at the foetal stage and shortly after birth.  It is then switched off.  Kaye Davies and her team at Oxford University are working to develop a drug which would keep utrophin switched on and boosted up to replace dystrophin.

Build up muscle to compensate

Steroids are currently used to help prolong muscle strength.  While they do have some effect, they can’t boost up muscle strength to anywhere near the level needed and they have a lot of side effects.

Myostatin inhibitors:  myostatin is a substance in the body which stops it from making too much muscle.  If myostatin could be switched off or inhibited, the body would make more muscle, potentially enough to compensate for the continuous muscle loss in DMD.  George Dickson at Royal Holloway College, University of London, is working on this approach.

Stem cells:  these are cells in the body with the potential to turn into any kind of cell.  It might be possible to direct stem cells to turn into muscle cells.  Research into stem cell use for Duchenne muscular dystrophy is being done by Jenny Morgan at University College, University of London.