Wednesday, July 31, 2013

"Wake Me Up!" - my anthem of the moment






"Feeling my way through the darkness
Guided by a beating heart
I can't tell where the journey will end
But I know where it starts
They tell me I'm too young to understand
They say I'm caught up in a dream
Well life will pass me by if I don't open up my eyes
Well that's fine by me

So wake me up when it's all over
When I'm wiser and I'm older
All this time I was finding myself
And I didn't know I was lost


I tried carrying the weight of the world
But I only have two hands
I hope I get the chance to travel the world
And I don't have any plans
I wish that I could stay forever this young
Not afraid to close my eyes
Life's a game made for everyone
And love is a prize

So wake me up when it's all over
When I'm wiser and I'm older
All this time I was finding myself
And I didn't know I was lost"




Tuesday, July 23, 2013

SMA Screening - Team Rowan's View

 
Sarah and Matt lost their beautiful baby girl to SMA; Rowan was just 18 months old and her story can be read here.  Sarah contacted me through twitter to offer to share her thoughts on the introduction of carrier screening for SMA and I am only happy to share them here.  If you want to share your thoughts, please get in touch with me.
 
 
"I could not imagine having to go through again, what Matt and I went through when our daughter Rowan was diagnosed with SMA type 1b and subsequently died of the condition in November 2012 at just 18 months old .
 
There are thousands of people walking around the UK who are carriers of SMA and they have never even heard of the condition.
 
Although I would never be without the special time we had with our beautiful girl I also would not put myself, my family or a baby through the heart ache and pain of dealing with such a cruel genetic condition.
 
Like Downs syndrome if SMA carrier testing was done on mums to be in the early days of pregnancy they could make an informed choice about continuing with the pregnancy or making the difficult decision to terminate if the baby was found to have SMA. At least this way they are informed . Being told your baby has a life limiting condition is truly devastating and I would not wish it on anyone.
 
Every woman in the UK has the option of having their pregnancy tested for some chromosome abnormalities some that cause significant disabilities and health conditions however none are as severe as SMA which is the UK biggest genetic killer of under 2’s. So why is prenatal  testing so readily available for those and not for SMA?
 
Carrier testing would be a stepping stone for parents; if they were found not to be a carrier then great, things carry on as normal. However, if parents are found to be carriers at least something can be done and options explored.
 
Being given a diagnosis of SMA is a death sentence to a baby and so difficult to deal with. Carrier testing would help parents to make informed decisions and not have to go through the pain that unfortunately Matt and I and many parents of SMA babies have had to go through."
 
 
 
 

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?
Yes. 
 
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:

http://www.screening.nhs.uk/policydb.php?policy_id=115


 

Wednesday, July 17, 2013

The Tooth Princess

princess by laura long




she arrived quietly one night,-
surrounded by sparkling light
and a trail of glittering fairy dust in her wake.
landing gently on the pillow,
she gazed upon niamh's smile;
there, in the darkness,
she could see one pearly white tooth
was missing; a tooth worthy of
her visit to leave,
in it's place, one gold coin
to be discovered in the morning light.




The first tooth is such a rite of passage.  My little girl is growing up and I marvel at the changes that seem to occur over night: she grows taller, her hair becomes curlier and darker, more freckles appear, her confidence grows, she tells jokes and reads a book all on her own.  The last 6 years have flown passed and I love her more each day; she brings so much joy to our family.



 

Monday, July 08, 2013

In Control - Taking the First Steps


 

 


We were recently recommended - and then self-selected - for a pilot running in East Renfrewshire.  "Taking the First Steps" is a programme funded by the Scottish Government and led by In Control Scotland to support families like ours improve the "outcomes" - or in lay man terms, quality of life - for our children and our family.  The oh-so-very-near future of support is going to be self-directed; we get to choose what support we want, how we receive it and when we receive it, enabling individuals and families to have support delivered to them which is as individual as they are.








Taking the First Steps" allows families and services to better explore and develop new ways of working together ahead of the self-directed support becoming an option some time next year.  During this particular pilot, run over the summer holidays, we will get the support from local services to work out how to spend £200 in a way that  has the greatest impact on Eilidh and our family too.  During the pilot we are to record and share what we learn by gathering evidence over the summer and sharing our experience with the caring services and other families - there is no better place to share this than here on my blog where I write about day-to-day life, living with a child with a neuromuscular condition, who also has additional needs.
 
 
 
 
Over the next few weeks I'll post a total of four posts and you can follow our story as we become more "in control":
 
In Control: the fun - budget spent = fun, fun, FUN!
In Control: the experience overall - the good, the bad and the ugly
 
 
 
 
 
 
 

Thursday, July 04, 2013

You return, normal day

 
 
 
 
 
 
 
 
 
 
passage by Mary Jean Irion
 
 
 
 
 

BritMums Live, the Message and Screening

 
 
 
 
I minicard bombed Britmums 1 at BritMums Live -
yes, gallus annie, that I am!
Nearly 200 cards left on the tables,


 



nestled amongst the sweeties
in prime position
to catch attention,
to be picked up,
to be looked at.


 

 
 
The message
pure and simple: 
 
 
 
 
 
 
 
1 in 40 of us carries the SMA gene.
14 people at the BritMums Live 2013 will be carriers.

Do you know what SMA is?


 
 
 
If you do one thing today, please find out more about SMA or Spinal Muscular Atrophy.  Why?  Because the UK National Screening Committee are currently reviewing the policy on screening for SMA.  What does this mean?  On their website they state that:
 
"Screening is a process of identifying apparently healthy people who may be at increased risk of a disease or condition. They can then be offered information, further tests and appropriate treatment to reduce their risk and/or any complications arising from the disease or condition. It is important to ensure that the benefits and downsides of screening have been properly thought through. The UK National Screening Committee (UK NSC) is responsible for reviewing screening policies every 3 years and making recommendations to ministers in the 4 UK countries about whether to not a screening programme for a certain condition should be set up. "
 
The public -  you, me, those affected by SMA, those who are carriers (that's 1 in 40 of us, just in case you didn't already know), and those living "normal" lives - along with healthcare professionals and everyone else, have an opportunity to speak out, to tell their stories and have their viewpoint - positive or negative - heard.  This can be done through the Jennifer Trust by tomorrow or directly to the UK NSC before the 5th August.  Do you think that we should be screening for SMA?  Do you think that mothers-to-be have a right to know that they carry the gene responsible for SMA?  Do couples have the right to decide, fully aware and fully informed, whether they bring SMA and all it's complications - and utter joy too! - into their lives?  If you have an opinion, please let your voice be heard...