Wednesday 28 January 2015

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).










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