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....
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:
