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.