Same but different….rare as Unicorn 💩???

Rare disease G&A Photo 2018This year 28th February 2018 is the worldwide celebration of Rare Disease Day. 

The very first ever Rare Disease Day was held in 2008 –  a leap year so the perfect occasion for the initial 18 countries that signed up to celebrate.

Every year since, countries across the world have united to raise awareness of all things rare in terms of disease.

Last year 94 countries highlighted their commitment and support to raising rare awareness which is a pretty fantastic achievement.  In fact that’s an increase in ‘productivity’  of 422.2222% for want of a better way of describing it!!! (I had to ask my eldest son taking A-level maths to work that out so if the stats are not right, don’t blame me!!)  So it isn’t surprising that highlighting all things rare is close to the hearts and minds of those who live with a rare disease or have family members affected by a rare disease.

What does ‘rare’ mean to you? I googled the word rare in the Oxford English Dictionary and the top definition that came up as an adjective was this-  “RARE:  – of an event, situation, or condition not occurring very often. ‘a rare genetic disorder’,”

After that it went on to talk about rare steaks, uncommon birds and such like. Interesting I thought however that the very first sentence used to define ‘rare’ was in the context of genetic disorders!

Actually I think the use of the word ‘rare’ in the context of rare diseases is a bit of a misnomer. Why? Because at any given point 1 in 17 of us will be affected by a rare disease! Surprised? Think about this number in terms of the day to day and see how it relates to your experiences.

If you used public transport today (probably a bad example since much of the country seems to be under snow!) was it crowded? More than 17 of you on board? Probably. Bought a coffee in one of the many high street chains? Hopefully not 17 of you in the queue at any one time but probably more on the premises tucking into a hot drink or waiting anxiously for their turn.

17 is lucky in some countries, unlucky in Italy. 17 is the number of muscles it takes to form a smile, 17 syllables in a haiku poem. 17 is the least random number in a study conducted by MIT asking people to choose a number between 1 and 20. So again, not that rare.

A rare disease/condition in Europe is classified as affecting 1 in 2000; in the US fewer than 1 in 200,000. 80% of rare diseases are genetic in origin whilst others are as a result of infections (bacterial or viral) allergies, environmental factors, degenerative or  known as proliferative eg cancers.

Of those diagnosed with a rare disorder a staggering 75% will be children.  In fact, many of these children are a whole new breed of rare. So rare that their medical/physical and or cognitive difficulties don’t actually have a name!

Presently we know that there are approximately 6000 children born each year in the UK  alone who have an UNDIAGNOSED condition. Of those, only 50% undergoing genetic testing on the NHS will ever get a diagnosis. And this is something very close to my heart because 2 of my children are undiagnosed.

Whilst we can indeed be enormously thankful that medical science is evolving and improving so rapidly –  approximately 5 new rare diseases per week are described in medical literature  – organisations like provide essential support and a voice for those affected by a rare condition.

For those of us still in unknown murky waters, studies such as  DDD – Deciphering Developmental Disorder  or the 100,000 genomes project /  offer families like mine the best chance of getting an answer as to why our children experience various difficulties and potentially the best way to manage their conditions, obtain treatment or assistance and potentially connect with families in a similar situation.

Families such as mine with children who are undiagnosed and/or ultra rare can often feel alone. SWAN UK provide the only dedicated support network for families of undiagnosed children and young adults affected by a genetic condition. Hand on heart I can say that the support I have received by being a member (and now a volunteer parent rep) has been a veritable life-line.

Although my youngest 2 children have a myriad of medical terms/symptoms and diagnoses, to date we have no unifying “umbrella” that explains why they are affected. Their medical notes are vast. Between them they have confounded some of the brightest and most well respected specialists across the country. If I had a £ for every time I had heard the words ‘rare’ ‘atypical’  ‘uncommon’, ‘complex (the list could go on for a while, you get my gist) I would be a very rich woman.

If a part of the human body or a specific organ is supposed to work a particular way, you can pretty much guarantee with my kids that it won’t. If unusual presentations or the extraordinary were olympic sports, my kids would be gold medalists. Several times over.

So over the years, being able to talk to those who understand what we are going through, who have felt left out, different or isolated has been incredibly important and helpful.

If one in 17 of us will be affected by a rare disease in some way, IT COULD BE YOU

Please click on some of the links above to find out more and if you can, please consider fundraising or donating:






Tonight Matthew I’m going to be……

An adult!

Strictly speaking I ‘adult’ every day, albeit some days more successfully than others.

Yesterday however, I ‘adulted’ myself to the nines.

So that you can feel comfortable continuing to read and for the avoidance of any misunderstandings, I should reassure you that this post is perfectly respectable and I won’t be revealing anything x-rated or of a delicate nature. You can all breathe a sigh of relief and resist the notion of poking out your own eye-balls/resorting to mind bleach for fear of dodgy pictures and such like!

I don’t know about you dear reader but the majority of the time I don’t feel old enough, responsible enough or even qualified enough to do the “adulting” parts of life. Certainly not with success and authenticity in any event.

Apparently however, being married having children, dog ownership (he might dispute that as pretty sure Milo thinks he owns me) a mortgage and all the other infinitesimal accoutrements of life plus being over a certain age means I automatically qualify as an adult… and there’s no resignation option (well unless you ‘check out’ entirely but that’s generally speaking a bit drastic)

Over the last year particularly, “adulting” has been a part of my life I’d quite like to have run away from.

Somehow wherever I hide, no matter how precisely I have chosen the deepest, darkest recess or how carefully I stick my fingers in my ears and shout la-la-la, the necessity for “adulting” always has a way of finding me….darn it.

And even before last years ‘annus horribilis’ I must confess that I had very often felt like a player in that game “Hedbandz” rather than a real adult.

For the uninitiated, the game compromises of a plastic head band device with a slot in which you stick a card in which states the object/word/profession and the wearer has to ask a series of questions to try & work out what or who they are.

For added ‘fun’ you can do a timed session so they have to guess in a specific time period or a specific number of questions. Adding alcohol into the equation for the ‘Adulty’ version I’m sure can only enhance the fun 🙄 But never in a million years would any card ever depict me as an adult; in fact I think I’m possibly only marginally up from a lemming….

Anyway, what I mean by my ramblings above is, in theory I suppose I should know I’m an adult but the actuality is very different and frankly I really don’t feel I’m quite mature enough to make life or death (somewhat over dramatic!) decisions on a day to day basis when I can barely decide what to cook for dinner!

So now I’ve long-windedly explained that, I’ll get to why I ‘adulted’ properly yesterday.

For those of you who have followed my blog for a while or who know me in the ‘real world’ you are probably familiar with my involvement in SWAN UK.

SWAN stands for syndromes without a name and it is the only specialist support network in the UK dedicated to families of children and young people affected by a syndrome without a name.

Having 2 children who are classified as SWANS – they are both medically complex and although they have multiple diagnosed difficulties/needs, we don’t have an over-arching diagnosis that draws everything together – getting support from SWAN UK over 5 years ago made a huge difference to myself and the whole family. In fact, if we had not joined SWAN UK (its free!) we would have had no idea where to even begin to think of living when we moved to the UK some 4 years ago.

Mr Def Not The W’s was allocated Leeds as a base when he joined his new airline but we knew nothing about the area, about hospitals, schools, housing and services and so it was to my trusty network of online friends that I turned to to seek advice and guidance in helping us formulate a plan.

Of course SWAN UK’s services go far beyond the things I mention above. You can read more about the vital support they provide here:

Over the years, the advice, reassurance, sense of belonging and community not to mention the family days out, coffee mornings and get togethers have been a huge source of comfort, support and a wealth of experience for me.

Back in 2013 it became apparent that holding down a job, even working from home as I had done since 2008, in a role that I could fit around my children, was no longer viable.

I eventually found that in order to keep on top of work I was in a seemingly endless cycle of being up very early, going to bed very late and working all the hours in between that weren’t occupied with the needs of the family including weekends. Something had to give. It was *almost* my sanity.

Although I don’t miss the crazy relentlessness of those days and we are fortunate in that we can (just about) manage for me not to work (and are hugely grateful at times to our parents for stepping in when an unexpected bill/costs rears their ugly head) I do miss that feeling of achievement and accomplishment.

So in September 2015 I decided I would like to try and do something useful with my life and if possible, give a little something back.

I recognised that combining this with (at the time) 3 children with extra needs was going to potentially be problematic. (Turns out we now have 4 children with additional needs, although our eldest is almost 18 and would revolt against the use of the word child!)

I decided to volunteer to be a SWAN UK parent representative for North Yorkshire…. if they would have me! And they did.

In fact, this was absolutely perfect because recognising that caring for medically/physically and or cognitively complicated children can mean life doesn’t follow the best, most carefully laid plans, SWAN UK are happy for parent representatives to volunteer as much or as little of our time as we are able to give. They also understand that sometimes we have to drop everything with little to no notice and have always made it clear that the needs/demands of our children, wider family and ourselves are paramount.

Over the years of being a SWAN UK parent representative, I have spoken at a Rare Disease conference about my experience of being a parent of undiagnosed children; I have contacted my MP about being part of an APPG (all party parliamentary group) to discuss and raise awareness of being undiagnosed and the implications that has on families as a whole, not just the affected individual. I have visited Parliament and spoken to a wide variety of professionals about the difficulties of living with the unknown and unexpected as well as assisted in organising days out to celebrate Undiagnosed Children’s Day (last Friday in every April) arranged coffee mornings and fund-raising events.

I don’t want to come across as holier than thou but aside from (hopefully) raising awareness and sign posting SWAN UK, it did make me feel useful and purposeful again.

It gave me an opportunity to step outside the role of parenting my own children’s medical management and hopefully gave a voice to others in a similar situation.

Anyway back to the reason behind the recent adulting: after something of a hiatus in 2017, I attended a professionals meeting at our local hospital.

Having contacted the Harrogate and District Hospital administrative team (via FB messenger no less!) I pretty much threw myself on their mercy. They kindly directed me to the Head of Paediatric Nursing and The Head of Paediatrics and we set up an appointment Gulp.😳

The fact that the head of paediatrics is also my children’s consultant was not lost on me and was more than slightly daunting.

Somehow, seeing me in a different role to G Man or Minx’s Mum felt strangely discombobulating; at least in the run up to the meeting itself and I was plagued with disconcerting dreams that I would somehow disgrace both myself and SWAN UK.

Nonetheless, I asked SWAN HQ to send me some literature and armed with this, my trusty, very bright pink SWAN UK bag, business cards (get me! I’m posh!!) and a lanyard, I put my big girl pants on (erm figuratively you understand, I haven’t gone totally Bridget Jones yet) and my “grown up” clothes on.

Being only 5ft almost 3 inches, adulting clothes usually involve heels for me. Fretting that I didn’t want to look like I was trying too hard or heading out for a slap up meal, I opted for heeled boots, a patterned skirt & top, with a bit of jewellery and a swish of eyeliner & lippy.

On the inside I may have felt about 5 and was quaking like a jelly but externally I *hopefully* projected confidant, knowledgeable and approachable….

Obviously I couldn’t really ask those present at the meeting if I had successfully captured that but my audience were enthusiastic and receptive. They were keen to read and then display the literature I provided and told me that they would be disseminating the information to fellow colleagues, the Paediatric ward, Child Development Centre, Parents Room and Paediatric clinics. I also got agreement to have a stand in the foyer of the hospital to coincide with Undiagnosed Children’s Day in April. So all in all, I think it went well.

I came away feeling positive and uplifted and like a real-life proper grown up for the first time in a very long time. I’m pretty sure I didn’t have my skirt tucked into my knickers at any point or commit any other embarrassing epic social faux pas’s so all in all winner winner… I hope…. 😊

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.

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:

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 – Facebook › Other

Thank you 🙂





The Thing……


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.


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.


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

He was disabled by the accident.


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.


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……..