Newborn screening, a family affair

 Here is a guest blog from Alison Andrews. Alison recently attended a talk on newborn screening for Duchenne muscular dystrophy:

My daughter and I are lucky enough to live in Cheltenham and were able to sneak out for a couple of hours to hear the lecture given by Dame Professor Kaye Davies at the recent Science Festival.  We found all of her talk quite inspirational and without hesitation accepted the organisers open invitation to join her afterwards in the ‘Talking Point’ – a lovely comfortable area where we could continue with questions and comments with her.

Dame Kaye was very friendly and passionate about her research and this quickly put us at ease, but as we chatted to her, I became aware of a growing difference of opinion between Laura, my daughter and myself!  This is quite an unusual state of affairs, as whilst neither of us slavishly follows the other, we are generally in accord.  Our differences lay with the knotty question of screening all new born babies for Duchenne Muscular Dystrophy.  Dame Kaye argued that with the (hopefully very soon) advent of available treatments which would delay the progression of the effects of this condition, it seemed to her to be essential to screen all newborns. She proposed that this would also be easier now – with quick, comparatively cheap and easy blood tests, all that would be required is a heel prick, similar to the one all babies already have done at about 5 days old.

To me, knowledge is strength, and I was quite excited about this idea of very early screening – I felt that families would benefit from a longer period of symptom free life with their child, and would have more time to come to terms with the diagnosis. Additionally, assuming screening would only start when some treatments had become available, an earlier start to treatments would benefit everyone.

However, Laura took the opposing view – she felt that having a new baby was daunting enough, and pointed out that where many parents don’t automatically bond in the first weeks with even a healthy baby, then this process may be even more compromised where a life limiting illness is diagnosed.  She went on to say that DMD is a peculiar life limiting condition in its absence of symptoms for such a long period of time – why shouldn’t new parents have the luxury of ignorance for just a few weeks as they get used to their new status as parents of this particular baby?

We agreed to disagree, but reflecting on our conversation later, I thought back to my little grandson James’s first few months of life. Seemingly a robust, healthy little boy – and devilishly handsome too, though I am biased – he cried and screamed his way through the first 9 months of life. No reason for this could be divined, and eventually, working our way through the alternative therapies in sheer desperation, either he got tired of crying or the spinal manipulation he was receiving suddenly stopped the yells.  As they were living with us at this time I was able to see at first hand the devastating effect of a non-stop crying baby – I’m not sure they could have coped without the extra support we could give them through this time.  His DMD diagnosis didn’t come for another year after this – but what if it had? Would that have been the straw that broke this particular camel’s back? Would the relationship between parents and new baby – already under almost intolerable strain – been stretched to breaking point?  Or would we all have blamed the inconsolable crying on the DMD and felt comforted in some strange way that there was after all a cause for James’s behaviour (albeit improbable that this was the cause)?

None of us could predict how we would feel if we were told our children had any sort of medical condition, whether we would want to know sooner or later is not a straightforward, right or wrong answer type question, but one which deserves a good level of debate – and a good deal of honesty regarding the real levels of support that can be given following diagnosis of this condition.

If you would like further information or would like to talk about any of the issues raised in this post, please call our free phone information line on 0800 652 6352.

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  1. […] by Dame Professor Kaye Davies, a keen advocate on the use of newborn screening, Alison Andrews (who blogged about her experiences here and who has a grandson with Duchenne muscular dystrophy) found herself agreeing with Professor […]

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