Sunday, June 30, 2013

Two amazing children

One of the wonderful things about the interwebs is that I have been able to find other families who have children like Smiley who are undiagnosed.  Many of them belong the wonderful UK group SWAN - for Syndromes without A Name - and some of them I now count as friends.

SWAN UK is also a finalist in this year's National Lottery Impact Awards, and they need your votes.  Just click on the link, it only takes a couple of seconds.

http://www.lotterygoodcauses.org.uk/project/supporting-families-children-undiagnosed-genetic-conditions-swan-uk

But why should you?  Well, two SWAN Mums, whose blogs I absolutely adore, have written a couple of very moving posts explaining why...

First up is Emma from 'Little Mamma said'

Please, PLEASE check out her inspiring blog too at http://littlemammasaid.blogspot.ie

Over to you, Emma....


“This is his diagnosis”, said the paediatrician as she handed me a piece of paper filled with lines and squiggles; Hugh’s higgledy piggledy chromosomes represented on paper by wavy lines in blue and red. I stared in disbelief; “What’s it called, this chromosome disorder? What does the future hold? How many other children are there?” she smiled sympathetically (perhaps patronisingly) and explained it didn’t have a name, the future was uncertain and as far as they could tell there was no-one else in the world with the same jumbled up chromosomes as Hugh.



We left the hospital numb and in shock. There was something wrong with our son, something that wasn’t working the way it should. The doctors and geneticists suspected it was to do with the complicated mix-up of chromosomes but they couldn’t be sure. They basically didn’t know what was causing Hugh’s difficulties. “Carry on with life”, they said, “A diagnosis doesn’t matter, he’ll get all the support he needs anyway”.

I was dumbfounded. In this day and age, how could it be possible to NOT know what was wrong with a child? Surely the wonders of modern medicine meant that everything could be tested for and identified somehow? I took to searching the internet to find the answers myself. If they couldn’t find out what the problem was, then maybe I could. Late into the night I typed in combinations of symptoms into search engines hoping for the answer, but nothing jumped out at me. There were no answers. I was convinced we were the only people in the world that didn’t know what was wrong with their child. I searched for support groups, but without a diagnosis of autism or Downs syndrome it was impossible to find anywhere suitable. I felt isolated and alone, angry and bitter and scared.



After endless late-night internet searches and on the verge of giving up, a lone voice responded to my pleas for help - her son didn’t have a diagnosis either. And in that moment, I started to feel relief – we weren’t alone; we weren’t the only ones! Shortly after meeting Rachel online, the project Syndromes Without a Name was resurrected by the charity Genetic Alliance. We were both within the first ten people to join the facebook group and the rest as they say is history!

I spent the next few months feeling a mixture of hope and despair, denial and anger, fear and uncertainty and shared it all with my new found friends online, or ‘SWAN family’ as we liked to call each other. When I found Hugh blue and lifeless in the living room for the first time, they were there for me. When he got an epilepsy diagnosis, they were there for me. When he was registered blind they were there. Day and night, through thick and thin, they have metaphorically held my hand, poured me wine and hugged me. In the darkest days, living on a knife edge, not knowing if Hugh would live to see another day, they helped me hold it together, with their messages of support and encouragement and virtual hugs.

For a long time, Hugh was very ill. His epilepsy caused him to stop breathing for prolonged periods of time and we would regularly have to give him mouth-to-mouth. I’ve lost count of the number of times we’ve been in an ambulance. Added to that were the recurrent chest infections he suffered and bouts of other illnesses like swine flu; we seemed to spend our lives in and out of hospital. Developmentally he struggled, any progress hindered by illness and skills lost through the devastating effects of his seizures. Little wonder then, that on his second birthday a consultant declared, ‘none of us expected him to live this long’!

Fast forward though and the days aren’t so dark anymore. Hugh’s health has improved dramatically and the future looks brighter than I could have imagined this time two years ago. And my ‘SWAN family’? Well, they’re still there – encouraging and supporting me, making me laugh (and sometimes cry), giving advice and still offering those all important virtual hugs. It’s less ‘virtual’ now and much more ‘real life’. I’ve been ‘oop North’ to visit Rachel and meet her gorgeous wee boy. I’ve skyped and facetimed and good old-fashioned telephoned lots of others mums. Our whole family went to the SWAN fun day at Thames Valley Adventure Park and met up with loads of other families in a similar situation to us. And we’ve had a jolly good girl’s night out, where the wine certainly wasn’t virtual and the hugs were heavily influenced by alcohol! There’s another girly night out in the pipeline and I can’t wait.



And Hugh? Well developmentally he’s still very delayed, at 3 years old he’s probably somewhere around the age of 3-6 month old. But he’s happy and so much healthier that his physical and cognitive development doesn’t concern me too much. When you’ve been given books on preparing an end of life plan for your son or had to give mouth-to-mouth at the side of the road, everything else kind of pales into insignificance really. A diagnosis isn’t as important as it once was, I’ve mostly come to accept what will be, will be and embrace the lack of diagnosis as it puts no limitations or expectations on him. I’m happier not knowing what the future holds, we’ll take each day as it comes and embrace it as the gift that it truly is.



For me, SWAN UK was a lifeline when I needed it most. I’m not sure how I would have coped without the support I had from the friends I made through SWAN. Even though life has improved significantly since those early dark days, I still rely heavily on the advice I get from the members of SWAN, whether that be about tube feeds or equipment or anything else. I love the fact that I can share the teeniest of tiny milestones that Hugh reaches and that they all celebrate it as a huge achievement, which for him it is.

As time goes on, and SWAN UK gets bigger and bigger, more local groups have been springing up. I now have good friends living within the city and surrounding areas that have SWAN children too. I’ve even recruited a few extra members myself and given presentations to doctors about the group in the hope that they will pass on the information to their patients. It is estimated that around half of all children with learning disabilities don’t have a diagnosis, yet despite this astonishing figure, when I left the hospital in October 2010, I was convinced we were the only ones. Hopefully, as SWAN UK continues to grow, people will know where to turn should they be in that position. Hopefully no one will feel as isolated and alone as I did.

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How can you not vote for SWAN UK after reading that?

And for more proof, head over to Rachel's blog for another heart-warming story:



6 comments:

  1. What a beautiful boy. I wish you lots of luck and happiness from your beautiful boy.

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  2. I am so glad you found an organisation and some families with children like Smiley, without a diagnosis. Really nice to 'meet' Hugh and to read his story. It must be very difficult when you don't have an actual diagnosis.

    Voted as requested :-)

    xx Jazzy

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  3. Stumbled across your blog quite by accident, but I've a 15 year old nephew with Aspergers and OCD, and I am turning 50 this November, so I found myself interested. Your blog is an inspiration in a time when society and governments seem so set on ridding the world of disabled people through abortion and euthanasia. When one sees the beautiful smiles on these kids, how can anyone think that they have no "quality of life"? Thank you for showing in your posts and photos that every life is sacred.

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    Replies
    1. Thank you for your lovely comment Nadja :)

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