“There are known knowns”…

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:

  1. Upper limb arthrogryposis
  2. Lower limb hypermobility
  3. Blood sugar instability
  4. Possible growth issues
  5. Gastro esophogeal reflux disease
  6. Dysmotility of the entire gut/colon/bowel
  7. Low heart rate when sleeping
  8. Pain (in the gut & bowel
  9. Chronic constipation requiring stoma use to manage
  10. Congenital myopathy
  11. Neurogenic issues
  12. Severe feeding difficulties necessitating gastrostomy feeding tube to give specialised milk during the day & overnight
  13. Swallowing difficulties
  14. Muscle weakness and fatigue
  15. 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 😘

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The Thing……

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There is a thing in my house.

Strictly speaking, it is things plural. They seem to be arriving by the truck load on a weekly basis and they are lurking in my house bathroom, staring at me benevolently every time I go in. If I’m feeling cross and argumentative (me – mardy? pah!) I might even argue they are glaring at me malevolently but this would be a bit of a stretch.

Of course, the presence of the things may explain my sudden swerve of the family laundry basket, (rather than just pure laziness of course!) such is my desire to avoid the things. I have adopted the ostrich principle – if I cannot see the things, they do not exist and all is tickety boo. Except that is false logic on many counts, especially when the tribe are shouting that they have no clean school shirts or pants. Meh.

The thing about the things is they cannot be avoided. Their very presence means they are the elephant in the room and we all know that elephants take up quite a lot of space….and they can make a lot of noise and mess too.

I have dealt with “the things” before and some of the things we have said goodbye to, I confess to feeling a tad nostalgic about since they reminded me that my children are growing up and gaining new skills. But now the things are leading us on a very different path and one that however much I read about, empathise with and nod sagely about, it’s one that I didn’t really expect to travel.

I know ultimately we will become friends with the things; that they will blend into the background unobtrusively and only every now and then will I have a little jolt that they inhabit our lives. In fact, they will make our lives, more specifically, the Minx’s life much, much easier. They “things” are not the stuff of nightmares but they are certainly not the “things” I day-dreamed of in a Mulberry style handbag kind of a way either. (Hint hubby, I have a birthday coming up in November and e-bay have some great second-hand ones if you need any clues….#just saying#)

So what are these “things” I am being so wordy about? Adaptions, aids, specifically contraptions and devices designed to help and support the Minx and us a family when she is fatigued and unable to do all the typical things that an almost 7-year-old can do.

Don’t get me wrong, I’m more than grateful that we have been offered these things, all free too (yes my US friends – FREE!!) and without any kind of fuss, fight or drama. Some might say, I’m all about THE DRAMA (an outrage, natch!) but when your occupational therapist reads the reports from the professionals and chats to you about every day life and the impact it has on pain, fatigue and energy levels and agrees without a murmur that various devices are needed, it’s a bit of kick in the head…with a stiletto.

By (almost) 7, most typical children are independently able to dress themselves, feed themselves, attend to toileting and bathing issues, albeit at times grudgingly but with minimal input from the wider family. They race up and down stairs with nary a care and their energy is boundless. In fact, having 3 older children, I have been that parent plenty of times, begging for mercy at the end of the day: “WHY won’t you got to bed you little sh*ts, sweeties??”  “What do you mean you are not tired?” #weeps#

But with the Minx the lines are blurred, the boundaries not so clear and every day is a draining juggle (for her and for us)  of energy levels, a battle of wills, of do’s and don’t’s. Hubby and I are very clear that we do not want to disable her in any way and it’s hard to be the baddy and call time on a fun activity when she is enjoying herself, especially with her friends. Nonetheless, we are also mindful that we are the ones that pick up the pieces, (literally) that see her struggling with pain and wobbliness of limbs, lying on the floor crying because she’s just done too much, unable to eat/drink or sit up properly. So the “things” will help us in supporting that and I have no doubt that in just the same way as I initially felt about her wheelchair, we will learn to embrace the things presence and welcome the support they will give her for her fight in independence.

Minx already has a specialist supportive chair for eating at the table and we have adaptive cutlery, numerous beakers, straws and items to make eating and drinking generally as easy as possible. We have used all these for a while with great success.

Recently we have collected a little frame for the toilet that she can hold on to, to support herself and balance. She will require less assistance with getting on and off and my back will thank me for sure. We have some nifty bath steps to make climbing in and out easier as well as a bath-board so she can slide herself straight across. All more or less manageable in my brain processing since they are not too far removed from the bits and bobs you use with little ones for their independence.

Then it steps up a gear and there is a bath contraption/harness/thingy  (technical terms obvs) for days when she is really weak and fatigued and can’t manage to get in/out unaided. At the moment, it’s sitting unceremoniously in my hall way waiting to be unpacked and assembled. It’s debatable how long it will take me to get my head round that one. I think I will look at it like lego building with my children – a necessary evil but sometimes productive and fun….especially if you follow the instructions straight out of the box.

As we will shortly be buying the house we moved into, we have been able to meet with the community Occupational Therapist (OT) to look at the stairs. Whilst at times, Minx can gambol up and down them like a goat, at other times, she is unable to even make it up the first step. When really fatigued, or in pain from hyper-mobility, it’s incredibly difficult to carry her because she is like a rag doll, unable to support herself or assist by wrapping her legs round you, or grip for support. Not only does this play havoc with my back and shoulders, I’m terrified of dropping her.

We also know that as she gets bigger it will only get harder if she continues to have episodic weakness or in the worse case scenario, progressively deteriorates  – another unknown when living with an undiagnosed child  – and since nothing about any of Amelia’s medical issues makes any sense, it is something we have to consider future proofing against.

IMG_4570

Lying on the floor IS THE new vogue you know…..

We have been asked to consider both a stair lift and a through floor lift which would go directly into her bedroom since our ground floor accommodation at this point would require major alteration works to offer her a bedroom/bathroom facility at ground level. Plus since Amelia is on overnight feeds and monitering, it’s much easier for her to be closer to us if we need to get up in the night for her. Trust me it’s hellish enough dealing with the beeping (not a euphemism) pump without factoring stairs in a sleep deprived (or should that read depraved!) state into the equation!

I had vaguely got my head around the stair lift idea, largely because I am really struggling with lifting her but ridiculous as it sounds, the through floor lift somehow makes Minx seem “more” disabled. It’s like the time I first heard only of my children talking about his sister to a friend “she’s disabled you know.” It was gut punching.

One dictionary definition of the word disable reads thus:

verb (used with object)disabled, disabling.

1.

to make unable or unfit; weaken or destroy the capability of;incapacitate

He was disabled by the accident.

2.

to make legally incapable; disqualify.

We don’t think of the Minx like this at all.

We remember the words of consultant and Doctors telling us she might never walk, run, hold a pen and we look at how far she has come. We look at what she has achieved  and continues to do, every day, amazing us with her beautiful drawings and feistiness, her jumping and climbing and we recognise how truly lucky and blessed both she and we are.

We are privileged to be part of the special needs community that celebrates children’s every achievement no matter how big or small and it is not benchmarked alongside their typical peers. Even so, we are acutely aware of feeling fraudulent within that community at times, knowing how incredibly capable Minx is alongside many of her special needs friends.

She even calls attention to herself at her mainstream school. The well-meaning shy smiles of sympathy as I wait with her wheelchair after school followed by the utter incredulity as she on many days bounds out and then leaps on the climbing frame waiting for her brother.

IMG_4783

yes, yes nothing to see her……move along please…..feed the monkey at your own risk….

Of course we know the truth and I shouldn’t need or have to justify ourselves to anyone but it’s hard at times not to feel a bit of a lemon. Nonetheless, from bounding around one minute to being slumped and unable to get up another is a regular occurrence in this house and so we need to encourage Amelia’s abilities and achievements whilst balancing them with the mundane every day requirements such as bathing, toileting and eating. Any way that we are her parents can support her in doing that, be that with physiotherapy, strengthening exercises, or the use of specialist equipment, then that we will do.

As the OT explained to us, a through floor lift would ultimately offer Amelia even more independence since she would not have to wait for someone to strap her into the stair lift seat safely, accompany her up the stairs and help her disembark afterwards. She would be able to use her wheelchair straight into the lift and in her bedroom when needed or just use the lift by itself to go up and down when stairs are too tiring so it’s certainly something to think about when our wish at all costs is to encourage Minx to maintain and be proud of her independence.

I guess her independence is one of the greatest gifts we can give her. Nevermore so was this illustrated to me than in her sheer delight when we talked about the self-cleaning washer/dryer toilet option. She has very weak hands and her contractures of the joints in her arms, wrists and fingers means toileting issues are very difficult for her.

I won’t go into gory details but suffice to say, her little face when told about this amazing possible adaption and her incredulousness that she wouldn’t have to call anyone for assistance when she had “performed” was fabulous to behold. Her reaction when we told all the children last week that we had sold our house in Jersey said it all: “Yey mummy, now we can buy the new house and I can have a magic toilet!!”

So I’m off to wrangle with the “things” and re-arrange the bathroom. Knowing the Minx she will want to bling up the various bits of kit anyway and by thinking positively, drawing inspiration from her, I can stop regarding them as public enemy number one and start touting them to Home & Life style magazines as up-cycled life style adaptions. (Tongue firmly in cheek.)

#counting our blessings#

Until next time……..