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:
Their website: http://www.swanuk.wordpress.com
Follow on twitter: https://twitter.com/#!/SWAN_UK
Find them on facebook: https://www.facebook.com/SWANchildrenUK
And check out their youtube channel: http://www.youtube.com/user/SWANchildrenUK?feature=watch
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!!!