“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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Shoulda, woulda, coulda…..

I’m not often given to introspection or too much dwelling on the past; after all, it rarely helps in changing anything going forward and dredges up old emotions and difficulties that you can’t fix. Indeed, as my Father is so fond of saying “If your Aunty had bo**ocks, she would be your Uncle!  (so couth, you can tell where I get my social graces from can’t you?!)

Don’t get me wrong, I’m rather partial to the fond memories of yester- year and have (very!) rose tinted views of those halcyon days of early child rearing.  In fact, I must be more than fond, some would say questionably insane and definitely have done more than reflecting on memories since I ended up with 4 of the now not so little blighters but generally speaking, I am much more about the present and the future. Of course there are lessons we can learn from our past. History tells us that often enough right? (although judging by the current state of world affairs, I’m not so sure what we learned but this isn’t a political piece so I will move swiftly on.)

So, why the title of this blog? Well, I’ll get to that properly in a minute but first let me explain that, 29th April 2016 sees the annual celebration of Undiagnosed Children’s Day – an event that is hugely important to families like mine because it gives us the opportunity to come together, support each other and know that we have something unique to celebrate – our uniqueness is flipping awesome!!

In a world defined by labels,  especially where special needs, medical issues/conditions are concerned, in a myriad of coloured badges, ribbons, stickers, plastic bracelets, just giving pages etc etc, we too have a specific day to raise awareness, feel the love and hopefully share some of the important info we have all learned over the years, which might, just might, prevent another parent or carer feeling alone and isolated; a space truly  dedicated to those who don’t have a diagnosis.

Back in January a group of SWAN UK  (SWAN UK: Home)  bloggers got together to focus on this years Undiagnosed Awareness Day and some of the key points that we as parent- carers would like to get across to the world at large about why it’s so important to spread the word and ensure that all those in need of support find their way to us. Aside from a weekend of laughter, giggles, and perhaps more than the occasional glug of pinot grigio (strictly post workshop you understand!) there were many, many issues that came to light.

In spite of it being the year 2016 and the huge advances in medical science and technology,  we know that approximately 6000 children are born EVERY YEAR without a name for the medical issues and difficulties that they face. One in 25 children is born with a genetic condition and based on current data, 50% of children undergoing genetic testing through the NHS won’t get a diagnosis!  Scary reading isn’t it? Even more scary being a part of that statistic but regular readers of my blogDefinitely Not The Walton’s…. | The Life & Crimes of a …will know that we have 2 children with what is felt to be an undiagnosed genetic condition.

Our youngest children are 9 and 7 respectively but our journey on the undiagnosed path only began shortly after the birth of our youngest child and it leads me back succinctly to the title of this piece. Over the years, and most particularly in the early days of learning that we had a physically and medically complicated child, there are so many things that would have been helpful to know; so many things that I wish someone had taken the time to explain to me, not least of which that actually answers wouldn’t be forthcoming just like that and that 7 years into our journey of riddles, we would not necessarily be any closer to unravelling the mystery. That at times, the plot would actually thicken!

The Minx in particular is a conundrum most contraire (entirely reflected in her personality too!) Her response to specific investigations to define whether her overall condition is  muscle related or nerve related (albeit with some interaction from both) have repeatedly come back as inconclusive. Frustratingly, more than one of her consultants has admitted that clinically they don’t see children in the pattern she presents with – technically the results produced don’t happen or are more clear cut – not in the Minx’s case naturally!

Normally such investigations define whether the problem is nerve OR muscle based but in Minx’s case, neither can be ruled in or out since aspects from each are prevalent and not in a helpful, lets pin this down kind of a way.

7 years of looking at specific genes for myasthenia, nearly 3 years being on the DDD study  Deciphering Developmental Disorders (DDD) project … and almost 6 months under the Genomics England | 100,000 Genomes Project we are still waiting for that elusive diagnosis and who knows if we will ever get one.

Perhaps more importantly, will we get one that means anything? Despite the rapid advances in genetics, many parents are still only receiving a bunch of numbers and letters, detailing duplications/mutations or missing links and these being  so rare in themselves, tell them nothing about what to hope for in their child’s future or how/if any future children they may go on to have will be affected. Whilst we have definitely closed the door (what do you mean after the horse has bolted?!) on that particular matter, I still couldn’t answer when my 16 year old asked if any future children he may have will be affected.

So if I could go back to the me of old, at the start of this phase in her life, mother of a newborn, beautiful baby girl, I would reassure her that actually, even 7 years after being on this undiagnosed journey, she would still have her marbles  (as much as any 30 year old  +10+1 mother of 4 can have anyway) that she would hold it together most of the time (see earlier comment in brackets!)  and that nothing she did/didn’t do was to blame, not even that rogue glass of wine or piece of brie that crept in somewhere along the line during the early days of unknown pregnancy.

I would give that woman a hug and tell her she would find a way through those early days of painful physiotherapy, 3 times a day doing stretches, 3 times a week at the child development centre with a distressed toddler screeching his accompanying woes to the cacophony of crying. I would show her that the all physiotherapy would produce a strongly independent child who can hold a pen, draw, colour and write beautifully in joined up hand writing no less.

I would tell her to ignore the off the cuff remark from some ‘helpful’ consultant  about the possibility of her child never walking – after all if they can’t tell me what’s ‘wrong’ with my daughter, how can they tell me what’s right? A far too simplistic view of course but you get the gist.

I would let her see those days of feeding difficulties that resulted in 6 different meals being prepared in the desperate hope that she would eat something, ANYTHING (even a cheesy wotsit) would result in a self assured little girl who despite not managing much in volume from oral consumption, would have a palette far superior to her typical kids who would happily survive on a diet of pasta and pizza. Present the Minx with a plate of smoked salmon, coleslaw, olives, Bruschetta, salad, you name it really, she would tuck in with gusto. At the very least if she is having an off day and food is a total no-no, that her feeding tube, specialist milk and pump will sustain her.

Perhaps most importantly I would show her that she would draw on reserves of strength that she never knew she had. That she would stand up to Doctors and consultants and nurses who thought they knew better but woe betide you confront or ignore a mother preparing to support her child in times of medical need. You may have the letters after your name, the fancy certificates, diplomas and steady surgical hand but I, I have my child’s utmost well-being, heart and soul to think of and in that, other than my child herself, I rule supreme. I really hope in reading this that it comes across as intended, not as some arrogant, bigwig, thinking I know more than the medical teams, but that I understand my daughter and her needs better than anyone else. My future self would probably also tell me right now to stop justifying what I mean 🙂

One of the other essentially vital things I would have done differently in those early days of isolation and fear, worry and struggling to find a place where we would fit in, would be to have directed that me to SWAN UK.  http://undiagnosed.org.uk/undiagnosed-childrens-day-2016

Instead of 4 years gadding about in the no-man’s land of the undiagnosed, I could have been part of a fantastic, amazing, inspirational support group of parents who would have scooped me up, drawn me in and given me a place to belong. That me would have relished the feeling of being ‘home’ in spite of the unknown, knowing someone would be there to answer my random worries in the middle of the night when swans like to cause mischief and fight sleep (no cleaning the cat litter box out did NOT cause Minx and G-Man’s issues!)

So now, this me, wants to help other parents, wrap them in the warm blanket of understanding and support and light the way to SWAN UK. You, Dear Reader, can help to. How? Please donate whatever you can to SWAN UK’s: Just Giving page or  Virgin Money Giving page.

You can see our fabulous SWAN UK Lauren Roberts achieve a child hood ambition by taking a dunk in a bath of beans: http://www.justgiving.com/BeanGate

You can learn more about SWAN UK and the marvellous work they do: What does SWAN / being undiagnosed mean? | SWAN UK

Oh and you can also share my blog piece and visit my FB page: Definitely Not The Waltons – Facebookhttp://www.facebook.com › Other

Thank you 🙂

 

 

 

The Good, The Bad….& the ugly….

I threw my toys out the pram a few weeks ago….figueratively you understand although I must admit I did feel like throwing things literally as well…..sadly, I am (allegedly) a grown up and this sort of behaviour is frowned upon…unless you are at a Greek wedding, or so I’m told.

What was the reason for my strop? Multiple appointments from different specialities at Great Ormond Street (GOSH) on different days and different weeks. Dramatic moi?

Well maybe, but over a 6 week period, GOSH had managed to send me 6 separate appointments necessitating 6 individual trips and at cost of + or minus £100 a pop, not to mention the disruption to schooling and trying to sort out childcare and cover for our other children as well, I reached the point of giving up any pretence that it was doable. I am not superwoman and much as admitting defeat is not in my vocabulary, something had to give.

The irony of having set up 3 appointments in the same week 6 months previously so that we could avoid multiple trips was not lost on me. None the less, only one of those appointments had been left as originally planned and everything else juggled about plus some others added in for good measure.

Now don’t get me wrong. I do not expect the NHS to kow-tow to me and my every whim but it would be nice if the individual teams concerned AT THE SAME HOSPITAL liaised with one another (especially as ALL the Minx’s issues are interconnected) and a bit of forethought and planning went in to the mix so that we could see people in one specific time frame, over several days in the same week –  which was the point of the original plan.

In fact I think this perfectly illustrates why an undiagnosed children’s nurse is so very necessary. Did you know that GOSH will be the first hospital in the UK to employ someone in this role and it is believed to be the first such position in the world?  The idea behind this is that there will be a dedicated specialist nurse who will help families and children like mine and act as point of liaison between services to oversee all aspects  of care.  Interviews for this noteworthy and ground breaking role have started but there won’t be a dedicated person until 2016.

Nonetheless, it will be very welcome when that person does seize the rains and if all goes to plan, I believe it is the intention to have 50 such roles throughout major hospitals in the UK. Yey;  parents such as myself will be breathing large sighs of relief all round! (Note if you know someone who would be perfect for this role, and really we are talking Mary Poppins on steroids to fill such an important position, have a google at the        Roald Dahl Charity      info for more details, position is still open  as date of writing )

Anyway, my good humour having been throughly displaced, I fired off polite but firm e-mails outlining why 6 separate trips were not possible and asking what should/could be re-arranged.

One of the appointments in particular had me scratching my head (& no it wasn’t nits!) We had received an MRI but it didn’t say what for and just told me I needed to allow an hour and a half for the scan. I assumed it was to look at the Minx’s spine in more detail since the scopes of her stomach and bowel plus a procedure called manometry that had been done back in October 2015, had indicated a potential spinal anomaly.

Having phoned the department to check if this was the case, I was informed “computer says no;” it was to scan her fore-arms….this perplexed me quite a bit and a sneaky gut feeling had me wondering if someone had (inserting technical term) “ballsed up.”

Not wishing to waste my time and money but more specifically the NHS’s too, since scans like MRI’s can cost hundreds and hundreds of pounds, not to mention that a more needy child could miss a valuable slot, I attempted to pin down someone, anyone in fact from the various teams involved.

I think there was probably more success in looking for Shergar than getting anyone on board with this. No one wanted to accept responsibility, ‘fess up that they had booked the scan for what, if any particular purpose or stick their head above the parapet as to just how necessary or otherwise the scan might be. Each different department seemed to suggest that someone else could help.

Whilst it has often been mentioned in the past that a scan of the Minx’s arms needs doing at some point, (because of her upper limb arthrogryposis) there has been no urgency and it was suggested as one of those at some unknown dates in the future to coincide with other things scenarios rather than a specific request, especially as it won’t change the management aspect of this part of her care.

Such a scan didn’t seem helpful in the context of possible spinal issues bearing in mind that she has also had other upper skeletal scans, the last being May 2015 and it made even less sense  when I received yet another appointment for the spinal MRI – naturally of course they couldn’t schedule the 2 at the same time….Sigh….

So fast forward through a bit of passive/aggressive key board warrior-ing on my part with GOSH, I eventually got a phone call from the neuromuscular department that went something like this:

“Hello, are you Minx’s mother?”….yes….”well the thing is the forearms scan could be useful but then again maybe not so ultimately, you need to decide whether or not your daughter should go ahead and have it…..”

It’s not often that I’m lost for words but I did open and close my mouth like a guppy for a few seconds whilst collecting my thoughts, much to the amusement of my taxi driver.  As it happened I was actually on my way to GOSH for one of the other myriad meetings at this point.

Eventually, I did manage to reply “Well, I’m so glad I went to medical school for all those years and am now sufficiently qualified to make that decision…oh no, wait a minute that wasn’t me, that was YOU and YOUR Colleagues…!!” Que embarrassed silence.

On the basis that we have managed so many years to date without the scan of her forearms and reasonably assured that since Minx’s most problematic issues relate to gut/bowel function I declined the scan. However, although apparently from a neuromuscular standpoint, as a parent I have enough qualifications to decide on the medical necessity of the scans validity, according to the  MRI department, this was not the case.

Having phoned to ask them to cancel the scan (curiously enough not trusting that the message would be passed on despite promises to the contrary) I was asked when I wanted to reschedule for. Shocked silence followed when I declined and explained why – maybe they were making guppy faces like I had? I was then told I was not allowed to make that decision and they would have to refer back to whoever had arranged the scan originally and get back to me. Good luck  with that I chortled and funnily enough I have not heard from them again….

So fast forwarding through various appointments, despite my best efforts, to combine where possible and some co-operation from a few departments, it has still been necessary to undertake 4 trips in as many weeks.

Cutting out the boring bits, we were relieved to learn that spinal MRI was clear and normal. Whilst this is essentially good news, it does not give us any clearer answers as to what is going on and why the Minx is struggling so much sensation-wise  with both bladder and bowel issues.

One of the other tests showed that her colon was absolutely jam packed (and I am afraid there is no delicate way to put this) with poop and she has very slow transit -essentially the time it takes for the stomach and bowel to move food along and expel it. It probably does go at least some way to explaining some of her pain issues. We do know that both the function of the nerves and muscles throughout the gut/bowel are ineffectual at best and at times, cease to work in entirety.

Having discussed matters in detail with both the Surgeon and Gastroenterology, various plans are afoot to help her with this but unfortunately we have already worked our way through Plans A & B and plan C, a surgical option, is looking ever more likely next year. More about that another time.

One piece of very good news that we had is that GOSH asked us to participate in the 100,000 genome project. This is fabulous news and something that we have been hoping for for quite some time.

Essentially, this is the largest genetic study currently accessible in the United Kingdom and will provide a date base for the NHS to help families like ours, both now and in the future. It may give us the best opportunity to obtain a unifying diagnosis for all the Minx’s (& for that matter, our youngest son’s ) difficulties. Potentially, it will allow for better management of her care and give us an idea of what the future holds for her. It is both terrifying and inspiring all at the same time.

Although we have undergone some genetic testing in the past, this was far more specific to presumed conditions (all of which have come back as negative to date) and so has not been helpful in the overall clinical picture.

Myself, hubby and the Minx have now had our bloods drawn for the study and signed the consent forms so it’s quite strange to think that somewhere right now,  boffins are cross referencing  our medical history and looking in detail at the Minx’s specific issues to decide how initial testing should be best commenced and that our blood samples will be whizzed across to a laboratory and analysed.

We have been told that result could take up to approximately 18 months or paradoxically that we STILL might not get answers but genetics is such a fast moving field with incredible new discoveries on a regular basis that this too could change and no answers for now, doesn’t always mean that we will never get one. So all in all, we are definitely a step closer than we were. As the saying goes, you have to be in it to win it.

Do I want to know? Are we ready? After 7 years in the dark (Minx had a birthday last week) I always thought the answer would be an unequivocal yes but I am reminded of Pandora’s box – after all, once the lid is off, it cannot be merely re-closed without consequences.

So yes, *I think* I am ready to know once and for all and once the novelty of having just been accepted on to the study wares off, I guess some sense of normality (whatever that is in this house) will resume and I will forget about it until maybe a phone call or a letter drops on the mat…. out of the blue….