I distinctly remember sitting at the side of
the hospital bed after Little H’s MRI waiting for the Consultant Paediatrician
to come and give us the results. We were
nervous, Mr. M and I, hoping and praying that there were no obvious signs of
brain damage and that this was something simple; something that could be fixed.
It was a huge shock then, when the consultant
wanted to discuss blood tests and not the preliminary findings of the MRI (his
brain was underdeveloped, but not significantly). She began discussing chromosomes and genes
and DNA and I remember her asking if I knew what they were. Any pieces of information gleamed in my A’
Level biology classes have long since left me and I stared at her blankly as
she explained what they were meant to be like and just how different Little H’s
were. All I wanted to know was “What’s
wrong with him?” “What’s it
called?” I knew enough to know that a
chromosome abnormality was for life (not just for Christmas, as they say) and
that it wasn’t something he would grow out of or be cured of. You can’t grow out of Downs Syndrome for
example. But I wanted the name of H’s
specific abnormality, his syndrome, so I could research it and find out his
prognosis. What is the likelihood he
could attend mainstream school for example?
(Genuinely, that was one of my main concerns, at that time I had no idea
how severely disabled he would be). She
clutched a piece of paper in her hand, full of squiggles and lines representing
H’s chromosomal rearrangement (or translocation if you want the medical terms)
and said “This! This is his diagnosis”.
I couldn’t understand why I didn’t have a
name; a syndrome I could research. I
spent hour after hour trawling the internet, attempting to diagnose him myself. I took every word, from every hospital letter
and googled them: microcephaly, hypotnia, low tone, coarse features .... What
did they all mean? What syndrome did
they all point to? There MUST be more to
it than this collection of numbers and letters and jumbled chromosomes?
It turned out that even the jumbled up
chromosomes themselves couldn’t be classed as a diagnosis because the most
detailed testing could find no evidence of missing or duplicated genetic
material. On the face of it Little H
should be fine, but because he has such mixed up chromosomes and because he is
so severely developmentally delayed the specialist can only assume there is a
connection between the two. It appears
he has a very rare chromosome disorder (the only one in the world as far as we
know) but they are yet to identify the individual chromosome(s)/gene(s)
affected. He is, therefore, ‘Undiagnosed’.
I had a hard time getting my head around
that. How do you answer that question
“what’s wrong with him?” (because people do
ask). How can I explain that the doctors
and the specialist don’t know? How can I
explain that we don’t know what the future holds?
I genuinely never knew that there were other ‘undiagnosed’
children out there. I thought we were
the only ones. It was terribly isolating
and confusing.
One night, whilst yet again attempting to
self diagnose on the internet, I came across someone in a similar
position. Her son had some of the same
symptoms as H but was as yet undiagnosed.
She put me in touch with SWAN UK and the rest, as the saying goes, is history.
Through Swan, I realised we were not
alone. There were other children, other
families out there, struggling to get a diagnosis for their child. Some of those children were similar to Little
H, many weren’t, but that didn’t matter.
It was reassuring just to realise that we weren’t the only ones
floundering around in the dark, rushing from one appointment to the next just
to be told ‘we don’t know’.
Through Swan, I have found out more than the
doctors could have ever told me. I have
found sources of information and support.
I have discovered therapies and ways of engaging my son. I have learnt about what we are entitled to
and how to fight to get it.
Through Swan, I have made some wonderful
friends, people who know and understand my deepest darkest fears but who also
whole heartedly celebrate the small steps and achievements H makes.
Through Swan I have found an inner strength I
didn’t know I possessed; a strength that enables me to fight for all the things
my child needs and deserves; a strength that allows me to question and
challenge professionals; a strength that has taught me – I am my son’s advocate
and I really do know best. And on the
days that strength fails me? On the days
that I feel weak and sad and exhausted and I doubt every decision I make? Then my friends at Swan UK have helped me
through that too, with their kind words and thoughts, with their hugs and
prayers.
It is no exaggeration to say that my Swan UK
‘family’ has made me the person I am today.
I am not sure I would have coped with all this past year has thrown at
us without them.
I have begun to accept, and at times embrace,
our lack of diagnosis because without one, there can be no certainties: “The
majority of children with X syndrome don’t ever walk” “Children with Y rarely live past ...” Of course the Consultants and the Specialists
can speculate based on past experiences but H likes to play by his own rules
and I firmly believe what will be will be.
And no matter what, diagnosed or undiagnosed,
with or without a label, he’ll still be my wonderful Little H and I’ll still
love him; for a rose by any other name would still smell as sweet.
SWAN UK celebrated it's first birthday on Wednesday 9th May 2012. You can find out more about Swan and the amazing work Lauren and the team do by clicking on the following links:
And just in case you were in any doubt about just how amazing Swan UK are - then watch this video. About half way through, you might spot a familiar face!!!
Lovely post, honest, gentle and a wonderful tribute x
ReplyDeleteI agree with Renata, a really lovely post x
ReplyDeleteThanks Renata and Nanny-Anne. I know you both appreciate just how amazing Swan is as well xxx
ReplyDeleteYes - never alone. That's so important. Thank-you for sharing.
ReplyDeleteThanks for stopping by and commenting TeamAidan.
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