To the parent of a newly undiagnosed child…

I remember the start of our journey of ‘What…? Why…?’ with Alex very clearly, though I don’t like to think of it often.
It makes me go cold.
Want to cry.

You never think you ask for much when you ask for a family of 4… for everyone to be healthy, no unforeseen complications.

Turns out you’re asking for the moon.

We had endless hospital appointments.

Friends, family, well meaning strangers all trying to understand something that… well, couldn’t be explained. Our son wasn’t developing the way he should. That much we knew. Anything beyond that, unexplained.

#undiagnosed.

No box to tick. No neatly tied up end of series explanations for us. Just endless cliffhangers.

What I want you to know though is…

It gets easier.
You worry less. Or at least not so constantly. Maybe only once a day, not once an hour.
You cry less.
You do find that overly used but-oh-so-true phrase – your new normal.
You will find what works for you.
What works for your child.
What works for your family.
Things feel less insurmountable.

You will feel whole again.

I’m not saying it happens overnight. Alex is 6 now and there are some days I still feel like I’m drowning in uncertainty… guilt… worry. But those days are fewer.

Without a doubt I – and we as a family – turned a corner when we discovered Swan UK. We found a group of like minded parents all in the undiagnosed boat. But with numbers comes confidence. And with confidence comes… well, the world.

This amazing group… we are a tribe. We band together to help each other online, in person, as much as we can. With help, advice and humour.

All saying: ‘You’re not Alone’.

Previously I never needed an online support group, had no idea what it would be like. But I don’t know that we would have made it through in as good shape as we have without them.

**April 28th is #undiagnosed Day and Swan UK’s mission is to reach out and find those parents of the 6000 children who are undiagnosed every year. Please help us find them and support them.**

https://www.undiagnosed.org.uk/join/


Mummy, are you telling them about SWAN again…? Tell them they are awesome!!

Today in Westminster…

So today I went to Westminster to listen to the APPG on Rare, Genetic and Undiagnosed Conditions. They were talking today about undiagnosed conditions and the impact of DNA sequencing. As this has happened to Alex, I – somewhat nervously – talked about our family experience. This is what I said.

When I said I was happy to talk today, I hadn’t anticipated the request for a 10 minute talk. I’ve put this together in brief moments over the last few days. I’m really not a speaker, I’m a blogger, and I realise I’ve written a blog here.

I was asked to talk about being given a diagnosis, what it meant to us… but I wanted to also tell you about our son, Alex as that will give you some context and appreciation of our family and how we got to where we are today.

This is Alex. He is a beautiful, sunny little boy. He has a cheeky inquisitiveness about him that I love. He gives the best cuddles. He progresses slowly but surely. He’s crawling. I never ever – ever – thought he’d do that. I truly think one day he may walk. This both excites and frightens me in equal measure! But we push him on to develop because that’s what we as humans do. Instinctively I think. And we just hope we can manage it. And you can see how much he enjoys that independence of movement. Independence of decision.

This is Alex. He lives at home with me, his dad, and his sister, Emma. Their relationship is one to treasure. Sure he annoys her – and I love the normality of that. But they love each other. When Emma is away staying at her grandparents she always calls to’ talk’ to Alex. She sits in his room when he’s asleep and tells him her worries. She plays with him as only a sibling can – rough and tumble on the floor. She is fiercely loyal to him. She always cuddles him if he cries. She lights up his face like none of us can.

This is Alex. He has no over arching diagnosis. He cannot walk, talk, use a knife and fork or go to the toilet. He is reliant upon 1:1 – sometimes 2:1 – support for all his needs and care.

We realised pretty fast that something wasn’t right with Alex. We probably had about 8 weeks of enjoying our new baby before the doubt set in. I’m sure it would have been longer if we hadn’t already had Emma but we knew the trajectory a baby should be following and Alex just wasn’t on it. He preferred light and shade to faces, he didn’t react to smiles and crucially wouldn’t make eye contact.
‘He won’t look at me Mummy’.

Emma was 5.

Our first GP was hopeless. She diagnosed Aspergers and sent me on my way. I was so surprised – because I still couldn’t really believe that anything was actually wrong, not really, I was just asking for reassurance, to be told I wasn’t a neurotic mother – that I didn’t think to question her ability to diagnose that at 8 weeks. We went back for a second opinion. Our second GP took one look and thought neurological. He was very kind but you can’t soften that blow. When I look back at those times – at those long days of disbelief, anger, grief… I don’t actually know how we got through the days. I know I cried a lot.

We were desperate for an answer to what we were all asking: What’s wrong with him? Could we fix it? Nobody could tell us. Our paediatrician thought he was blind. It became abundantly clear almost immediately that he’d based this on absolutely nothing scientific. Just a gut instinct? Hopes raised and dashed.

Alex’s MRI came back normal. Blood tests revealed nothing. Lumbar punctures (my little boy held down shouting against his will. The one time I walked away) revealed nothing. And so we arrived – with alarming speed – at our genetics department.

We all want answers to questions. Alex was our question. With Emma our neuro typical child living proof that we could do this – what had happened? Was it something we had done? Had work been too stressful? Had I eaten the wrong food? Was our DNA out of whack? Should we want another child would it happen again? And… As and when Emma asked me if her children could be affected… Could I please have a better answer than ‘I don’t know?’

We are always amazed I think at how much ‘they’ don’t know and how much there is still to learn. Our geneticist took blood samples from everyone and sent them off for test after test after test. All came back negative. And as all the scary things were struck off the list… We were still no closer to an answer. When they suggested DDD we jumped on it. The last saloon chance if you like. We spat into our tubes, gathered spit from Alex who thought it was hilarious, and waited. And waited…

Spool forward two and a half years and you find a different family. One who’s got used to having their youngest with a disability… who have found support and comfort from both their friends, family and SWAN. One who now celebrated Alex’s achievements and worried far less about a diagnosis. Who have stopped spending their free time in hospital appointments and worrying at Google but instead are trying to build a life that works for them all. I’ve even gone back to work.

And then our letter arrived. Saturday morning. And I knew the moment I saw it what it was. I’ve thought about that moment a lot. Because I cried when I opened it. Because it changed our lives again. Blew apart our safety bubble and threw us back into all things medical. That weekend was hard because all the letter said was – we think we have something, give us a call. I couldn’t. Because it was a Saturday. Please don’t ever ever send letters out on a Friday. It just gave me two days to overthink, to try not to think about this Thing. What was it they’d found? I kissed my boy more than ever this weekend because suddenly he seemed so much more fragile than he had before.

It took me until 4pm to get hold of my geneticist. One of the longest days of my life. I rang everyone to try to get hold of her. And she was great. She talked me through what they had found – a dink in his DNA pointing to Noonan’s syndrome. And she told me what she knew whilst I googled it. A month and a half later we went in to talk to her in person. This was a very odd time as life went on as normal but this – what felt like – life changing meeting was coming. We discussed Noonan’s some more. I breathed out as it seemed remarkably benign. Although we all wondered if he fitted as Noonan’s children tended to be small for their age – Alex is not – their learning difficulties tend to be mild – Alex’s are not and – critically – there tend to be cardiac issues. Alex has none. But we like to believe data, to believe in numbers.

In the December to that initial May meeting another letter came out from our genetics department: ‘I have been approached by the DDD team to confirm that we do not feel that the CBL variant is the whole cause of his problems and they are pursuing an alternative variant about which they were not prepared to release details at the time. I am sure they will do so as soon as is possible’.

I rang and told them I didn’t feel this was an appropriate communication. It’s the equivalent to vague-booking, with the exception that even if I ask, there is no more information.

When families enter the DDD study and the like it is because there is nowhere else to go for answers. They are desperate. They are expecting a lot – and I include our family amongst those number when we joined up. We are hoping for our wizard of Oz moment. But time passes, and life moves on and we became almost afraid of a diagnosis. We liked the safety of a limbo status. And I know we aren’t the only ones. So this bundle of emotions – fear, anticipation, nervousness – all needs to be managed. Far more than it is currently. And maybe this is something that wasn’t considered when these studies were set up.

I understand the need to communicate and keep up to date… but I do feel there needs to be continual dialogue between DDD and the families it takes on. The importance of constant genetic counselling isn’t something to be underestimated. Family expectations change, needs change and this is life-changing information that’s being supplied here. It was always my ringing to ask if there were any news. Could there be a 6 monthly call, even if there is no news?

I don’t feel the needs of the family are being kept paramount. Sometimes science runs away with itself. I understand that everyone is different, and that budgets are tight but I feel that there needs to be a more tailored approach here. DDD and studies like it are on the crest of scientific waves but they aren’t operating in isolation, their results are not anonymous… they are impacting people here and now as well as improving people’s chance of a diagnosis in the future. There has to be a continuing dialogue as to how families would like information provided and also of managing expectations. That the answers – if they come – may just produce more questions. And I think that now the results are tumbling in those of us with results can help shape how the next set of parents are worked with.

This is Alex – a bundle of mixed up DNA, a conundrum. But please also remember that he’s not just a genetic problem to be solved: he’s our son, Emma’s brother, An intrinsic part of our family.

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Mummy? Did you go somewhere without me today…?

On how life is just one big Uncertainty. Which isn’t always ok…

I think what ‘undiagnosed’ means to me is… uncertainty. Our whole life is suddenly uncertain.

When your children are born you only then realise how fragile you are and how vulnerable you have suddenly become… and yet within that you can still plot a broad path for them in your mind … first steps, first words, first days of school… right up until the day they leave home and you hope hope hope that they’ll be just fine on their own.

With disability, an undiagnosed disability, that is ripped from you. And it’s not ripped from you overnight but slowly… gradually… after you’ve all realised something is amiss, that that path will not be your path, that your child will plough their own… after you’ve held them still (held them down… walked away when you couldn’t bear it anymore) and put them through blood tests, lumber punctures, eye tests… when they have protested so much that you Will Not do Anymore… when genetics have thrown their hands up and said ‘We don’t know… We may never know…’ When that has sunk in… you have reached your no mans land.

You don’t fit anywhere.

All the support groups you have found are for individual symptoms but with no over-arching diagnosis, where can you go? It is a very lonely, very isolating place to be. You question yourself. Is it really as bad as everyone seems to think it could be? With no diagnosis perhaps my child will just catch up in time? Does everyone think I’m making this up?

And this is why SWAN UK is so important. Everyone needs a home, a tribe, and we are a tribe. A tribe of misfits if you like. Those shapes that just won’t be sorted. No child is alike but our issues, challenges, as parents are the same. We all understand the vagaries of no diagnosis. How this can affect coordination and provision of care, how it’s hard to plan for any further children without one as noone can give you odds and how life is… uncertain.

Alex, having been given a tentative diagnosis of Noonan’s Syndrome has pretty much had that withdrawn. Whilst his DNA glitch matches that of Noonan’s nothing else seems to. He is tall for his age… he is more severely physically and cognitively affected than other children with Noonan’s and, critically (though wonderfully) has no heart defects, which is a sure sign. Our consultant took one look at him and said, to all intents and purposes, that he would never have diagnosed Noonan’s. And then… DDD came back to genetics and said – and again I paraphrase – Do you think it’s Noonan’s? because we’ve found something else that might be useful, though we’re not sure what it is yet.

And back they disappeared down their scientific rabbit hole.

This was back in December. And so there we were, riding the crest of the scientific wave… dropped back into uncertainty again. Recalibrating life… again.

I have no religious leanings but, truly, every day with Alex is a blessing.

Because he is a beautiful, funny, cheeky little boy who I love with all the ferocity of a newborn.

Because we don’t know what’s coming. We may never know what’s coming. And that weighs on you.

We don’t know how he will grow and develop. We have no prognosis. I panic at every alteration in his behaviour. My heart fell when he stopped being able to bite his toast recently, I feared he was somehow regressing… a day later, his tooth dropped out. No other parent – apart from one in my situation – would have felt that. It’s not normal, I know that, but that is our reality. And ours is just one story.

Swan is a bringing together of parents.

Parents who understand one another.

Who get it.

Who support and advise one another in a way that is unique to our situation.

That’s why we want to find as many other parents with undiagnosed children as possible. 6000 children are born every year with what will turn out to be an undiagnosed syndrome. That’s a lot of families with unanswered questions. Together we re-build each other’s confidence, tell each other when we are – frankly – being daft… and sympathise in situations we fully recognise, because we have experienced them too.

It is therapy.

April 29th is Undiagnosed Children’s Day. It’s a day to highlight our beautiful children and our unique situations.

But – and here’s my ask – they need money to keep this amazing charity going. Here’s the links:

Text SWAN11 (or whatever number you can afford) to 70070 or donate here https://www.justgiving.com/swanuk/

… every little does genuinely help.

Thank you.

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This was us at Peppa Pig World recently – funded by Swan. We would never have gone otherwise. We had the most fun. Alex loved the new people (wasn’t sure about the rides!) And Emma conquered her fear of rollercoasters.
But Mummy, you didn’t!
Sssh!

This post joins a host of fabulous Swan parents who blog about their experiences. All unique.

A quick letter to our MP – to ask for some cross party co-operation

Dear David

I know we have corresponded previously on our son, but today I am writing to you as my MP to ask you to join the All Party Parliamentary Group (APPG) on rare, genetic and undiagnosed conditions.

Rare, genetic and undiagnosed conditions are often life-long and serious, affecting multiple systems of the body. Many of them are progressive, meaning that the health and quality of life for affected individuals will continue to deteriorate throughout their lives and many of those affected will die prematurely. The vast majority of rare and genetic conditions cannot be cured and most have no effective treatments. Families like ours frequently experience delays in gaining an accurate diagnosis for their or their loved one’s condition, and can struggle to access appropriate care and support. Or simply find that no-one knows how better to help us and we get lost in the system.

My child has a genetic condition that doctors recently think they have identified – they think he may have Noonan’s Syndrome. This is quite a rare syndrome affecting between 1000 – 2,500 children worldwide per year. We are still early days in this diagnosis and there are many parts of our son’s symptoms that do not fit with typical Noonan’s children so in reality we are faced with more questions than answers. Most children with Noonan’s have mild learning and physical disabilities whereas Alex has quite severe and complex both physical and learning disabilities. I do not know what the future might hold for him – will he walk? Will he talk? Will he have a shorter life expectancy? What will happen to him when I die? It’s incredibly hard living with such uncertainty. Some days it’s ok and then something will happen, something quite small sometimes, and my world will empty over worrying about him. That’s why I’m asking you to join this APPG and to use the group to press for improved diagnosis opportunities, which in turn may unlock access to effective medical care and treatment for my family, and others like us.

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It’s unlikely that I’m your only constituent whose child is affected by a rare, genetic or undiagnosed condition. It is thought that about 50% of children with learning disabilities and 60% of children with multiple congenital problems do not have a definitive diagnosis to explain the cause of their difficulties. Rare and genetic conditions are a significant cause of illness – 1 in 17 people will be affected by a rare condition at some point in their life and 4 in 100 babies in the UK are born with a genetic condition. It is estimated that 6,000 children are born a year with a genetic condition that will remain undiagnosed. That’s a lot of children, and that’s a lot of affected family members. And lives forever changed.

The key aims of the APPG will be to increase awareness of rare, genetic and undiagnosed conditions in parliament and help to ensure that patients and their families – families like mine – who are affected by these conditions, have access to appropriate care and support.

The charity Genetic Alliance UK will be providing secretariat to the APPG, so please get in touch with them by emailing emily.muir@geneticalliance.org.uk or by calling 020 7704 3141, so that they can provide you with additional information.

I hope that you will join the APPG and dedicate a small fraction of your time to what is – to us, and many many other families like ours – an exceptionally important subject.

I look forward to your response.

Yours sincerely,

Helen (Alex’s mum)

Please note: if you require any further information about the APPG please contact Emily Muir at Genetic Alliance UK, emily.muir@geneticalliance.org.uk.

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I don’t care how important this letter is Mum, I did say if you left it with me for for than a nano-second I would have to explore it some more…

That DDD study

‘I am writing with news that the genetic tests undertaken… for your child have identified a possible cause for the developmental difficulties…’

You’ve maybe noticed I’ve been quiet with the words of late. This is why. The moment the letter arrived with the hospital postmark… well, I knew what it was. I circled it warily, opened it, cried. Stopped blogging.

It’s so hard to explain the mix of emotions you feel when you receive the letter, read those words… Many of you will know we’ve been on the DDD study for two and a half years (not including the 6 months it sat on the shelf unopened. Sorry). That’s a long time. A long time to get used to the idea that maybe there isn’t an answer, that maybe those scary answers you thought it might horrifyingly be, well, it’s not them either. So he’s undiagnosed. That’s a badge we can live with. It seems to fit. I liked not being able to explain Alex sometimes, that he was just Alex. And now… well, here came that label. I wasn’t sure I wanted it.

They don’t tell you in the letter what it might be. You have to call. So I spent a day chasing my geneticist down, feeling like That Mum again, wanting – not wanting – our answers. They tell you over the phone, no waiting for a 3 week later appointment. Bam. Here it is.

So Alex has, though it hasn’t been utterly confirmed, but they’re pretty sure: Noonan’s Sydrome.

I had a small teenage moment when she told me this: it’s an awkward to say syndrome, and not nearly enough ‘z’s or science-y letters in it. Not very flash. I know. Inappropriate.

Wiki has a good page on it here: https://en.wikipedia.org/wiki/Noonan_syndrome but, essentially, the key take aways for me were:
– it’s not progressive
– it’s not hereditary. It can be but, for us, it was ‘de novo’: a mutation.

My little boy is a mutation.

There the words of science and parenting clash.

But it means the chances of Emma carrying it are incredibly slim. I cried again when I heard this. Hadn’t realised how much it weighed on me. Emma. Having children. Just regular, normal ones. Like most people want. Like most people have without thinking.

It affects between 1 in a 1000 to 1 in 2500 children so is, compared to some diagnoses SWAN children have had, pretty common. I think what threw a swerve ball to our geneticist – why she didn’t test for it, why we could have avoided all this time in the middle – was his height. Around 80% of NS children are short and Alex is anything but. But, if you look at the physical features that we think of as ‘just Alex, part of him’, (heavy lidded eyes, slightly dropped ears…) he matches. And the blip in his DNA is consistent.

They can’t tell us much more right now, so I can’t tell you. It sort of explains why he is how he is… but not where he’s going next. There is a huge spectrum of Noonans and Alex, to us anyway, is at the extreme end because of his extreme developmental delay. Most people with Noonan’s have only mild learning disabilities. I think being diagnosed via DNA first is quite new, I suspect up until now the visual clues have come first. So whilst Alex is probably just a new variant there is a thought that something else not Noonan’s related may be going on too, so more tests are imminent. Just to be sure.

I dread going back into the hospital system.
I’ve enjoyed just having our life.
Puts brave face on.

And Alex? Just carries on being Alex. When the letter came through I insisted I was giving him more cuddles – more than before – though everyone said this wasn’t possible as this boy was hugged All the Time. It was as if I was reassuring myself. About what I don’t know. Maybe that it would be alright. Maybe that having a diagnosis would be ok. When we told Emma she burst into tears: ‘So Alex isn’t a Swan anymore?’ She too felt the drawing in of parameters, wondered if this meant he wouldn’t talk now. We reassured her that though everything had changed, nothing had really changed.

And it’s taken a while for me to write it down. To share our news quite so publicly. It took a while for me to get comfortable sharing it with people at all. To say, when people asked me about Alex, ‘Actually, we’ve just had a diagnosis’. I haven’t hidden it, just not shouted it, and I hope that’s ok, that you see where my head is at. Feel free to ask questions, even though I probably can’t answer them…!

And we stay in Swan, they don’t kick us out. Which is just amazing as without them, I’d have been bereft. They supported me without a diagnosis and they’ve supported me as I came to terms with something new.

Everything… and nothing. The world shifted a little. And then it didn’t. He is still our little boy. Still loved. Still challenging. But ours.

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Hey, Mummy, forget the diagnosis, come and play…!

Was that the post…?

Close up on the inside of a front door – specifically the letter box.
As we pull back an extremely thick A4 brown envelope is pushed through the letter box.

Switch back to close up on the letter as it drops onto the mat in slow-motion and we see the address for DWP on the back.

‘Oh good,’ we hear off camera, ‘The DLA renewal pack has arrived, I do enjoy filling that in’.

Said no parent of a child with additional needs. Ever.

DLA – for those of you new to this benefit (for it is a benefit) – stands for ‘Disability Living Allowance’ and is money to help with the care of a child whose disability means they need more looking after than a child of the same age who doesn’t have that disability. It’s divided into two parts – care and mobility – and those parts vary depending on how much care your child needs during the day and night compared to a neuro-typical child of the same age and how mobile they are when compared to… well, you get the idea.

This is a form/ pamphlet/ short story that has to be filled in because it is the gateway to be accepted as ‘disabled’ in the wider world. ‘Are you in receipt of DLA?’ is a much asked question on forms/ questionnaires/ waiting room tick lists where the answer more often than not has to be yes in order to proceed forward to the next stage of appointment/ funding/ equipment provision.

It is a soul-destroying form. For starters, it’s not a form, it’s an overlong pamphlet, or a short story. It runs to 70 odd pages and though it does have large type that doesn’t take away from the daunting feel of it. When I do Alex’s I have to steel myself. The process usually goes:

1) Letter arrives. I ignore it and put it on the pile of other paperwork I can’t deal with.
2) Because of its size, it remains quite dominant in the pile – even under school dinner money requests and free papers – and I know it’s there. Waiting.
3) With a little sleep behind me and feeling brave I open it. Then I remember how much I hate it and re-file in the ‘to do’ basket.
4) Eventually, with deadlines looming I attack it with vigour. I get maybe… half way through and decide I’ve been worn down enough for one day and leave it.
5) Repeat step 4 a week later. Realise I need a mound of paperwork photocopied in order to prove Just How Disabled my son is and take it all down to the library to get that done.
6) Pile everything into the envelope triumphantly, post it off and reward self with chocolate.

This routine is practised by thousands of parents of children with additional needs up and down the country.

Because. And this part is important. We are told to, and indeed we do, focus on the positives of our children every every day. Every tiny achievement, every miniscule step along the developmental curve, every – frankly – not bad day… it’s a winner. We celebrate, we feel our lives are working well.

But this form?

Every single question is about what they cannot do. Can they dress themselves? Can they feed themselves? Can they go to the toilet/ take a shower/ leave the house by themselves… And every time it is a ‘no’. The further into the form I get, the more I find myself writing ‘Alex is unable to do [insert activity] by himself. He needs full support from a 1:1 in order to fully access/ engage in it’. It makes for depressing reading. And, my favourite: ‘Can your child walk? No? Skip the next 30 questions’.

Before my eyes Alex transforms from my beautiful, giggly, jolly little boy… A boy who loves to explore his environment, study his toys, ride his bike… to: ‘Alex cannot…’, ‘Alex is unable…’, ‘Alex requires…’ He changes from someone who is growing and changing as a person to a huge burden on my time with no discernible upside for him or myself or the rest of my family. Once finished I have to really remind myself of all the truly great things about Alex and our life with him.

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This is a complicated post really because, don’t misunderstand me, I’m incredibly grateful for the end result, this is much needed revenue. I think I’ve mentioned before that we never talk about money but having a child with a disability is expensive. We wouldn’t be fund-raising otherwise. Everything costs more… from the big items – the bed, the tricycle, the car seat – down to the smaller every day items: twenty different sippy cups to find one they can actually hold; bigger car to accommodate enormous buggy and still leave room for everyone to get in; more petrol because you have to drive everywhere when you would possibly have walked – not to mention the hospital appointments… more washing going on because of more clothes ruined through play/ food/ *whisper it* poo – long past the age when you would have reasonably expected that to have ceased.

And. The elephant in the room: making up for lost income. That extended maternity leave when you realised where your life was headed, that part time job because full time doesn’t fit with a disabled child, that untaken better job/ promotion because you just can’t guarantee you’d be reliable and at least your current employer understands your situation.

I just wish there was an easier, more positive way of working this form. To not leave me – and countless other parents – feeling emotionally bruised at the end of it. To leave us putting off till the eleventh hour something that takes weeks to go through the system. And- election over – I worry that this system will change again. Probably not for the good.

Having filled the form in three times now during Alex’s busy nearly five years we’ve been awarded DLA till he’s 18. This is a very much silver-lined cloud. I am over joyed not to have to fill it in again till then but… oh, he really is *that* disabled? You don’t think that’s going to improve? Well, maybe not, not in your tickbox world he won’t but in mine… that boy has a long way to go yet.

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Mummy says please send wine and biscuits. And cake. Always cake.

Hearts full of thank you…

On the last really hot day of this month, whilst Alex and his respite family went off to the beach, Emma decided she’d like to go to the cinema.  To watch Frozen.  Again.

Luckily for her, I didn’t mind.  We’ve slowly – like every other family I know – become a bit overrun by all things Frozen, and Emma has been carefully writing out the various song lyrics for friends for weeks.  For those of you who haven’t been to see it yet… go see it.  It’s the only film Emma and I have discussed in detail all the way home.  At it’s core – I think – is the love and friendship two very different sisters have for each other and how this ultimately saves the day (Elsa – unlike her sister Ana –  just happens to be able to flare out snow and ice from her hands in a fashion very similar to Spiderman and his webs) but there is so much more to it than that.  For one, there’s Disney’s first gay family, but my favourite has to be the beautiful subversion of the traditional fairytale ‘love at first sight’ idea (‘You’ve agreed to marry him, and you’ve only just met him…?’ echoes throughout the film).

Where this film really resonated with me the second time round in a way which had somehow passed me by the first time round, is in the isolation of Elsa and the affect this has both on her, and the household.  For what you can see are the best intended reasons she – and her somewhat unusual ability to create wintery conditions – are hidden away in her bedroom, out of sight, away from everyone.  She never sees her sister. Elsa’s not seen or heard from again by the outside world till her parents die and she comes of age for her own coronation.  She is scared all the time of making the wrong move, doing the wrong thing and hurting someone with these powers she has.

There’s no doubt we both do and did this with ourselves and Alex.  Sometimes it’s easier, so much less aggravation, so many less questions to answer if we maintain what we in the land of disability like to call our ‘bubble’; where our life seems normal even though we accept that to most people it looks anything but.  So the shutters come down, the doors are closed, invitations are declined and life goes on being lived, but very much within our own 4 walls and on our terms.  It’s easy… but it’s not much fun.  You resent life if it’s lived this way because you can see just how much of life you are not living, you are just exist-ing… you see how much is passing you by that you just – foolishly, oh so light-heartedly – assumed would be yours for the taking.

So we went out.  We took baby steps.  Days away from home just by ourselves.  Look, we’ve done it, we’ve had a walk, had a picnic, had an icecream.  Isn’t this what normal people do?  (Again, whatever normal is…).  Days out with close friends.  Weekends away with friends and their children which have been glorious times for us and Emma, just to be out there.  And we found… it was ok.  And just as Elsa was so much happier when her town accepted her for who she was and she could use those unusual powers for fun (How great that Olaf never has to find out what summer means for a snowman?)… How much happier are we, with our unusually put together family when we – and Alex – are out in the full glare of everyone.

Living.

Our friends, they are accepting, they ask sensible questions, they help.  Strangers… well, it would be great if those few stared a little less, but in the main they check Alex, they look at us and they grin.  It’s hard not to as all those of you who have met him can attest to – he’s a happy little boy and that’s infectious, disability or no.  And that flapping of arms, those stamping feet, you know he’s happy.  No grey areas for our little boy.

Last Saturday, we put him firmly front and centre at a local fundraiser.  Here he is, here’s our boy, thank you for helping him.  People’s generosity to The Wakey Cup was astounding.  So many people came and said hello, and so many people supported the day and the cause – in so many ways.  There is enough to buy him a trike, which we are so excited by.  We think he’ll love it.  The different movements it will allow him, the different sensations he will feel being more exposed to the air.  There is also, hopefully, amazingly, enough to get a 3 wheeler all-terrain buggy so that when Emma goes hunting for shells on the beach near her grandparents, we can all go and help.  This will all add to Alex’s exploration and enjoyment of life, thus enabling us all.

We cannot thank all of you who supported this day enough.  And to the Wakey Cup organisers a special thank you, for the time and effort you put in to making it such a success.  You’re truly amazing.

Thank you.  From all of us.

Alex & Sammy

This is me and my cousin Sammy on the bouncy castle.  We loved it.  Thank you all so so much, my Mummy says that this trike will make me quicker than Emma!