Monday, July 22, 2013

SMA Screening - from a mummy

Some time ago now - it was actually October last year-  and in response to a letter to no.10, I received a reply from a man responsible for "Ministerial Correspondence and Public Enquiries" at the Department of Health.  It told me that the National Screening Committee was currently reviewing the evidence for SMA screening against its criteria and that a public consultation would commence shortly.
Some eight months on, despite knowing that the process of SMA screening was about to be taken seriously and a consultation was on the cards, there had been no indication that it was going on; no transparency, no letters or emails from the charities working in partnership with the NSC through the consultation, no direct communication with those who have lost babies to this terrible genetic killer nor with those living with the reality of SMA in the day to day.  Surely these people should be given the chance to have a say?  To have their stories heard?  These stories, collectively hold a power so infinite and unquestionable that every person affected by SMA should have been informed of the process being undertaken.  Those affected, parents of children with SMA, family members and friends should be able to read the document and understand what is being said - or at least an information leaflet, easy to follow, clear and concise and aimed at an appropriate reading age - so that they can respond.  Instead the process seems somewhat clandestine, aimed at professional people who are "in the know", who have an understanding of the screening process, of science and statistics and confidence intervals, and these are the very people who are - more than likely - living lives unaffected by SMA.
So here I am - having coincidentally stumbled across a post on The Jennifer Trust - a mummy to a beautiful little girl who happens to have SMA, living an unfamiliar life with a disabled child and managing somehow to make it wonderful, wanting to tell you, the people who will make a decision about the future of a screening programme, exactly what I think about screening for SMA.

eilidh at 8 weeks - long before SMA came into our lives

The day we were told that our daughter Eilidh had SMA was the worst day of my life, my world ended in that moment, all hope was lost and our future was unwritten.  The disbelief, the anger, the sadness, the grief were immense and overwhelming, but I had to get up each and every day thereafter to greet the day and care for my family.  Eilidh was blissfully unaware and with innocence on her side, she kept me going. She was the reason to get up in the morning. Her smiles made my days. Her joy and exuberance flowed through the house and for that, at least, I was  grateful. 
For a while she remained Eilidh; for all intents and purposes to those who didn't know her diagnosis, unaffected by SMA.  But then came her Panthera Micro as her peers began to walk; her standing frame to help her bones grow strong and to keep her muscles long and straight; Snappie as her friends started to explore the beautiful world around them, hopping, skipping and jumping; adaptations to our house and discussions with social work and occupational therapists about costs, funding and responsibilities; a WAV to transport Snappie and all the goods and chattels needed; a car seat to keep her safe at any cost; more adaptations and tracking hoists to enable us to have time as a couple, to allow others to care for her.  For many carers, SMA and disability become all consuming with sleep deprivation being common,  low mood and depression a possibility, and the need to alter working hours or indeed become a full-time carer a reality.

What about Eilidh?  Well, she was and still is Eilidh.  No more.  No less. 
She is cheeky and headstrong and independent in her own way.  She loves singing and painting, cake and ice cream, asking questions and never taking no as an answer.
She knows no different - her life is inexplicably bound to SMA and I love her no less because of it. 
I will do anything and everything for her and for my family. 
She brings so much joy to me, to my family and to those around her; she keeps me going. 
But do I wish that she didn't have SMA?
Do I wish that I could have been screened before my pregnancy to see if I was a carrier for SMA?
Yes... most definitely, yes! 
I would have been screened to save myself and my husband from the pain of having our hearts broken in two at the point of her diagnosis. 
I would have spared my family and my friends the heartbreak of seeing our hopes and dreams shatter before their eyes. 
I wouldn't now covet a normal family life in which we didn't need to consider accessibility and transport and adaptations and grants and acceptance and support and respite; a family life in which every day didn't feel so much like a battle. 
I would not have to worry that a sniffle and a cough would turn into something more serious that would mean hospital admission and ventilation and prayers for her to be spared, prayers that she would see a life of  three scores and ten. 

I would be living the life I dreamt of before SMA came into my life.

These are my worries and concerns and thoughts; selfish but honest as they are, I do not know what Eilidh feels about SMA and disability, nor whether she would advocate a screening programme and I cannot as a result speak for her - she is only 4 after all.  Some say SMA is a good disability to have, the muscle weakness being more than balanced by an above average intelligence, and that the world is their oyster.  I still wish that I had had a choice and that is what this screening programme comes down to:  should women contemplating pregnancy have the choice of living with a child with disability, with all its ups and downs, just as they do with so many other genetic conditions both ante-natally and after birth?  Would you want to have that choice?  So, do woman have the right to that choice?

this is eilidh recently:
sma in all its glory - beautiful and totally dependent

If you want to have your say, you can download the expert review and find a form for feedback and comments here:



Ellen Arnison said...

Beautifully put as ever.

Ellen Arnison said...

Me again. Is this a UK-wide review?

Midlife Singlemum said...

I would want to have the choice. We make every choice for our babies - that's what parent do, it's our job as parents.