” There are known knowns; there are things we know we know. We also know there are known unknowns; that is to say we know there are some things we do not know. But there are also unknown unknowns – the ones we don’t know we don’t know. ”
Credit: Secretary of Defence Feb 2002 – Donald Rumsfeld
Why the above quip which I’ve shortened to meet my own needs? Well as a very different Donald (to the tangoed-recently US elected one) said it so well…. I’ll explain further down…. hopefully I’ve peaked your intrigue and you will keep reading!
Friday 28th April 2017 is a day to celebrate for Undiagnosed Children in association with SWAN UK who fall under the umbrella group of the Genetic Alliance.
Not only is this a fabulous day to celebrate all things unknown, rare, unique and downright puzzling, (with our children, not all the wonders of the world!!) it’s a day to raise awareness amongst friends, family, professionals in any area of the medical field and wider still.
Most importantly: our big ambition this year – to raise awareness, provide support and a place to feel at home for all those parents/Carers who are bringing up a child without a medical diagnosis.
To quote directly from SWAN UK:
Our Big Ambition is that all families who have a child affected by a syndrome without a name get the support they need, when they need it. We want it recognised that being ‘undiagnosed’ is not always a temporary stage; the genetic cause of some conditions may never be known. We want every child and young adult with a syndrome without a name to receive high-quality coordinated care and support both in hospital and at home.
Surprisingly and sadly, there are still families out there who aren’t aware of the invaluable work and support that SWAN UK can offer them.
In some cases, SWAN UK has literally thrown out a lifeline to desparately tired, lonely, scared and isolated people who feel they have nowhere else to turn. And of note, SWAN UK is the only support group in the UK dedicated to families raising children without a diagnosis – we can offer 24 hour support (give or take) since whilst all our SWAN children have varying difficulties and concerns, a large majority seem to share the view that sleep is the work of the devil so you can often find a parent on line offering or asking for support or just catching up on info they haven’t had time to digest during the day!
Of course, raising funds to support the emmense work load of SWAN UK is also really important but I’ll get on to that in a bit.
Those of you who have followed my blog for a while will probably be able to quote back many of the statistics I’m about to blurt out; & yes I may have banged on about this one way or another every year for the past few in connection with celebrating Undiagnosed Day (and often times between) but you dear reader, even if you are personally unaffected will likely know a family with an undiagnosed child or will come across one (or more!) in the future.
Just maybe you can be the one to offer someone out there light in the darkness and point them in the right direction to access the crucial support and signposting they need and deserve, particularly in the early days of their journey be that before birth when pre-natal scans pick up on possible genetic issues, those early days post birth when it becomes obvious that something is not quite right with their much longed for, hugely anticipated tiny baby or as in other cases when a seemingly typically developing child begins to fall behind their peers or shows regressive behaviour.
From personal experience I know how tumultuous those feelings can be; how overwhelming. Just like the (approximately) 6000 children born in the U.K. each year, our daughter has a Syndrome Without A Name.
My little Minx (not so little now, a whole 8 years old!) was born almost at term and despite a complicated pregnancy, seemed utterly perfect to us in every way. She passed her paediatric discharge – if awards were given, hers would have been gold (proudly boasting mother) but she really was the cherry on top of our cake.
A little girl after our amazing 3 boys (not one of which we would have changed at all; we were never “trying” for a girl and personally, unless there is a very good genetic reason for sex selection, it’s a step too far for me) but it was so exciting to experience, even from the very first day, the differences of having a bundle of the female persuasion – nappy changing = no peeing in the eye moments as my dear boys got me so many times over the years for a start… although cleaning poop out the girly bits was…. daunting…. I’ll stop there rather than make anyone think too vividly.
Our first few weeks in amongst the haze of feeding, washing, attempting to sleep when the baby slept – (i.e. never) and generally fight our way through the sea of all things pink that friends & family far and wide sent to us (yes I know it’s a stereotype and girls, for that matter boys, can wear any colour but did you really think with Minx being the first great/gran/daughter after 3 boys she wasn’t going to be in dresses and frills and shades of pale pink, lilac and basically looking like an explosion in a pink workshop?!)
However, as a 4th time Mum I had a serious case of “the niggles” even in the very early days of the Minx having been brought home….she cried virtually constantly (but not like a collicy baby, I’d had 2 of those) she started feeding well but would then cough, choke, delatch and occasionally snort milk out of her nose (very different to her greedy brothers who had trouble latching initially but would soon settle into rhythmical suckling until they had refuelled) and she held her head/neck/arms so awkwardly.
I’ll spare you the VERY long story that brought me to this part of our journey as best I can (if you would like to, you can read some of my earlier blog posts and discover more about our journey to date).
Suffice to say mother’s intuition is a powerful thing and over the years we have collected a myriad of teams, specialists, equipment and partial labels to encapture Minx’s difficulties but like that dastardly elusive last piece of the jigsaw puzzle, we don’t have the complete picture. In fact as it stands at the moment we don’t even have the picture on the box – frustrating & like working in the dark.
I can give you some examples of her varying issues:
- Upper limb arthrogryposis
- Lower limb hypermobility
- Blood sugar instability
- Possible growth issues
- Gastro esophogeal reflux disease
- Dysmotility of the entire gut/colon/bowel
- Low heart rate when sleeping
- Pain (in the gut & bowel
- Chronic constipation requiring stoma use to manage
- Congenital myopathy
- Neurogenic issues
- Severe feeding difficulties necessitating gastrostomy feeding tube to give specialised milk during the day & overnight
- Swallowing difficulties
- Muscle weakness and fatigue
- Food allergies….
Have I forgotten anything? More than likely! We see that many specialists and consultants in 3 different hospitals and use multiple pieces of medical equipment, aides, pharmaceuticals and so on; sometimes it’s hard to keep track!
Minx has a wheelchair, a stair lift and bath lift for when she’s too tired/unable to get in/up/out or mobilise for herself. And who could forget the amazing self-cleaning toilet with padded seat and washer/dryer function, complete with arm rests, feet support and a medical pillow for comfort whilst “performing”. Honestly, it truly is a marvel to behold… and I’m told in Japan, it’s particularly de rigeur to own a similar commode, albeit not usually for medical purposes.
So back to Donald Rumsfeld’s now infamous quote, which yes, I’ll admit I have chopped up a bit to suit my own purposes, there are lots of things we know about the Minx but there are equally lots of things that we know we don’t know. The unknown unknowns if you will.
So many of her issues fit neatly together and others frustratingly don’t. As has been much muttered by her neuromuscular consult (complete with wringing of hands) “but we just don’t SEE this presentation of neurogenic and myopathic symptoms and difficulties”
Except of course you do, because Minx presents with them. So it’s back to the drawing board, tearing up the medical text books and much head scratching – although these days it’s a bit more technical than that and there are some fantastic genetic studies that we have been invited to take part in. Largely, down to information provided by SWAN UK, I knew which ones might help us get some answers and who to approach to see if we could get on to them too. If you want, you can learn more here: https://www.ddduk.org
Also: the 100,000 genome project https://www.genomicsengland.co.uk/the-100000-genomes-project/
Minx has been tested over the years for various myasthenia genes, myopathies and so on but the above 2 studies give us our best shot of learning what Minx’s overall condition is.
To some extent, it’s unlikely that having a formal diagnosis will change much in terms of treating Amelia and her difficulties. Unless it’s something that a very specific medication or therapy can improve, then it’s extremely unlikely that what she has is curable – in our life time and maybe even hers. But it does give hope for the future, for gene therapy, for others following our pathway and for siblings to make informed choices in deciding whether they want to know if they are carriers or affected by the particular genetic fault. It offers hope, choices, plans and preparation. Maybe far off for now but gaining ground every day.
It should be noted that our family wouldn’t change a thing about our feisty little Minx (except maybe her stealing my MAC lip gloss & suede boots) Whilst we all wish she didn’t have pain, surgeries, physical weakness and so on, some of those exact difficulties have helped shape the amazing, bright, sparky and self assured young lady she is becoming, not to mention the dab hand she is becoming on using technology to help her in every day life – I-pads, tablets, lap tops and PC’s are increasingly being utilised to assist her at school and in daily life.
Maybe my point about not changing her sounds odd? Most assuredly, I wish she and many of her SWAN UK comrades didn’t have to go through the dark, trying, and in too many cases, tragic outcomes I have witnessed over the years.
There is something fundamentally, inherently wrong about a parent out living their child. It is not the natural order or design of this world and is beyond cruel to far too many of my contemporaries, friends, people I have formed and shared extra special bonds with over the years. Some I have only ever had the pleasure of meeting virtually through our SWAN UK on line community, others at the plethora of events that SWAN UK hold every year to give a glow to our special needs kids, their oft neglected siblings and exhausted but exultant parents who meet for regular coffees or stay and play type events. https://m.facebook.com/SWANchildrenUK/
Please do go and have a look at our website for more info about the group and what we can offer https://www.undiagnosed.org.uk/about-us/
So what can you personally do you may wander? Well, you could share this blog post on various forms of social media, change your profile picture like I have done to raise awareness of SWAN UK and Undiagnosed Children’s Day – I’m happy for my profile picture to be shared but please check with other people before sharing their stories or pics. Get tweeting far and wide – celebs, politicians, the rich and famous to raise awareness (and maybe even ask them ever so cheekily for some cold hard cash!)
Get Undiagnosed Day trending (I’ll pretend I vaguely understand all these terms in connection with social media) because I know that one is important on twitter but I’m not too hot on all things tech. To those of you who are, I salute you – help this Luddite out and get sharing far and wide.
As well as raising awareness, WE WANT YOUR MONEY!!
For more info, ways to donate etc go to the SWAN UK page or public face book page. You can donate via text/post/online or even fund raise for us directly!
If you would like to make a one off donation you can also do this via Just Giving or Virgin Money Giving or text SWAN11 plus the amount (up to £10) to 70070
Online Donations You can donate through our page on Virgin Giving or Just Giving. If you are a UK tax payer don’t forget to tick ‘Gift Aid’ as this scheme allows us to claim tax back on your donation, making every £1 you donate worth £1.25.
Little heroes can fulfill big dreams and ambitions with your support!
Thank you 😘