The 24th April 2015 is Undiagnosed Children’s Day and it’s a cause for celebration but also for some reflection too. Did you know that every year approximately 6000 children are born with undiagnosed genetic conditions and that 1 in 25 children born in the UK will have a genetic condition at birth? Probably not, unless you have already entered the hallowed portals of the special needs community. I know personally that until our journey began, I was blisteringly unaware; not just of the statistics but that in this day of modern medicine, children could still be born into a world where no-one can tell you what’s “wrong” with them.
I’m not keen on the word “wrong” because it has such negative connotations. Heaven knows that when the never-ending stream of appointments and letters land on our collective doormats, there are generally enough items listed under Problems/key aspects to make somewhat depressing reading for our undiagnosed kiddos.
Nonetheless, for all the “wrongs” that glare out at us in black and white, there are so many other amazing, incredible and note-worthy things that our kids do. Some of the achievements might seem minor in the eyes of the Doctors or joe public but to those of us who were told their children might never walk, talk or harder to hear still, survive beyond their first year, something as minor as allowing us to do their teeth without a melt-down, eating 1 spoonful of puree or sitting up unaided are teeny tiny miracles that happen on a day-to-day basis.
Just this morning, our little Minx did a button up on her school dress. It took many, many goes, precious time that we don’t really have on a frantic school morning and by the time she had done the one button, her arms and hands were too weak to do the rest but she had managed that one and inside I did a little happy dance. I know that if I choose to share this tidbit with my fellow special needs parents, they will join in the happy jig, whereas if I post this as my FB status, the majority of my friends will think I have lost the plot!
So what’s the big deal? Most 6-year-old can dress themselves and don’t need a parent to watch over them, never mind assist. However, for our daughter, managing that tiny flower shaped button was a massive accomplishment and a reflection of her determination and sheer bloody-mindedness. It made my heart swell just that little bit more and also reminded me why her bloody-mindedness is more of a blessing than a curse, although when she’s in (what I affectionately term) She-Wolf mode, it’s hard to hold onto that!!
I could list all the things “wrong” or “problematic” about her – & some of that is helpful in understanding the issues she and we face on a daily basis so I will elaborate later – but on the whole we, and the majority of other parents I have had the pleasure of meeting either personally or via the marvels of the internet (more about that in a bit) prefer to celebrate and focus on the positive and the mile-stones that our kiddos meet in their own sweet time.
Before I go on, I want to make sure you, dear reader, know that this is no pity party for one. There might be some lows along the way but there are plenty more highs and whilst I am feeling a bit (ok more than a bit!) teary writing this, there are far more things I want to shout from the roof tops about the fabulousness (sorry English teachers) of life than moan and wail about it.
We have 4 children, ages ranging from 15 to 6, 2 of whom have an undiagnosed, genetic medical condition. In fact it was only recently that we found out that our 8-year-old son fell into this category. Until Christmas 2014, we had adopted the ostrich principle, refusing ( or rather hoping not) to acknowledge that many of the difficulties he faces are very similar to those of our youngest child and only daughter.
The Minx as she is affectionately known was first formally diagnosed with medical issues at the age of 6 weeks. As a mother of 3 already, I had a gnawing feeling that something was off when she was 2 weeks old but my lack of anything specific to focus on seemed foolish and unhelpful. In fact, my then health visitor told me I was being neurotic when I mentioned my concerns about her constant crying, poor feeding and the odd angle that she held her head at. Nonetheless, looking back I learnt an important lesson from those very early days: trust your instincts! You may not have a medical degree but as the parent, you know best, you know your child best and you have their best interests at heart.
When our daughter entered the medical machine that now takes up rather a lot of my time and space (you should see the paperwork files, pin board and calendar covered in appointments and medical equipment!!) – I felt over-whelmed and lost. We collected names of conditions for certain aspects of her health issues but we didn’t have an over-riding, unifying diagnosis as to how these issues came about, what had caused them in the first place.
I can tell you that she has upper limb arthrogryposis, severe feeding difficulties, muscle weakness, fatiguability, hyper mobility, generalised motility disorder, chronic constipation etc etc. The list now reads over 2 pages of symptoms or partial diagnoses (and seems to grow every year) but it doesn’t tell us why she has these difficulties and it doesn’t give us a place to fit.
There are many amazing and valuable support groups out there for defined and recognised medical conditions but when you only have parts of the puzzle, an odd assortment of jigsaw pieces that more often than not, don’t even seem to be from the same picture, where do you find yourself? Where do you go for support and help? Enter SWAN.
SWAN – Which stands for Syndromes Without a Name first came into my life about 3 years ago. It’s not a diagnosis or condition but a term that we can use to describe our physically, medically and learning disabled children. There are more than 900 members of this invaluable support group in the UK alone. Whilst many of the issues that affect our children differ hugely, collectively this gives us a sense of community and a place to belong; a place we fit, no questions or judgements. Many of us describe it as home.
SWAN is in fact the only dedicated support group in the UK for undiagnosed children and is run in conjunction with the Genetic Alliance. Swan work directly with health care professionals, education and social care departments to highlight the difficulties for parents/carers in obtaining support and services that are so desparately needed. Without a diagnosis, it can be very hard to access the services that our children should be entitled to but SWAN provides members with access to practical support and advice as well as a fabulous on-line support group.
Since many of our swans have sleep issues, you can be guaranteed to find someone on-line even in the very smallest hours, ready to lend an ear, offer support or virtual cake and coffee. 2.27am can be a very lonely place but somehow knowing that my fellow swan army will be about to cheer me up and commiserate over the beeping feeding bump (I mean beeping literally, although there are plenty of expletives I could add in place of beeping!!) offers a ray of light and comfort into the darkness.
So for us, 24th April 2015 is not JUST another day, it’s a sort of Christmas and birthday type feeling rolled into one. A day to celebrate, rejoice and feel a part of something big. You may not directly be affected by having an undiagnosed child but I bet you know someone who is.
Myself and many other parents will be doing our best to raise awareness and raise funds and you too can get involved. If you want more information, feel you could do a bake sale or car wash, dress up/ dress down day or anything at all (so long as it’s legal!!) then click on this link: firstname.lastname@example.org
Thank you 🙂