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!!

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…!

Guest blog from Emma

I was talking to Emma about a piece I was writing for Undiagnosed Day.

‘Does it mention me? You know, you always tell me how well I’m doing?’

I laughed, and told her she was coping well with the whole ‘Alex thing’ but that this piece was more about how not having a diagnosis could be both a good and a bad thing, so it didn’t really talk about any of us in great detail.

‘Well, could I do a bit for it?’

‘Yes, but I might just put it up separately, if that’s ok?’

So this is Emma’s guest blog:

‘My bit’ by Emma

Being the sister of an diagnosed(*) child can be a bit weird because when people stop and say to mum ‘Why isn’t he walking?’ it makes me feel uncomfortable because you’re just torn between saying ‘If he could walk, he would’, or feeling quite embarrassed because he can’t do the stuff you can do.

But a good thing is that you can play with them for longer, generally mess about with them for longer.

It’s true that diagnosed siblings will take up more of your parents attention space, but you have to remember that when your parents do spend time with you they’ll be doing stuff with you that they could never do with your sibling.

When your the sibling of a diagnosed child it can be stressful at times, but overall it’s brilliant.

I cried when I read this (and not just because I was desperate to correct her punctuation).  It’s interesting what she notices in our day to day life with Alex, what sits in her head.  But I’m glad she’s able to articulate how she feels so clearly, to write it all down.

Alex and Emma

Pg 1 and 2

Pg 3

*she means undiagnosed – here, and later on – but you knew that.

What’s Wrong With Him?

‘So, what’s wrong with him?’

I am wrong footed for a second.  ‘Er, nothing, he’s perfect?’ I think.  But I know what they mean, understand what they are after.  A simple label to explain why Alex is the way he is.  Why he isn’t walking, why he isn’t talking, why he sits in his pram rather than trots by my side, why he flaps his arms up and down quickly when something is exciting, indicating with every fibre of his being that he is happy, why he doesn’t always look at you properly.

Why he is so interested in shiny things, why he doesn’t always play with toys appropriately… why he wakes up in the night, sometimes for up to two hours and lies there, giggling to himself, before dropping back to sleep.

Why he is who he is.

Why he is Alex.

I don’t know.

It’s not as if we haven’t tried to find an answer.  The medical profession have tried, as hard as they can, to provide one for us.  In those early days, when you probably didn’t hear from us much, Alex was having blood tests, or MRI’s or awful, awful lumbar punctures that I wish… I wish we hadn’t done… to try and find a solution.  Nothing, always nothing.  No obvious cause could be found.  So one by one we have dropped off their lists, we are down for annual reviews with opthalmology, neurology, paediatrics… they don’t know what to do with us anymore, feel they can’t help anymore and have reduced Alex to ‘interesting anomaly’ along with more children than you’d expect.  We are left with genetic testing. New genetic testing that is, everything else has been tried.  There is a study called the DDD study – Deciphering Developmental Disorders – which is delving deeper into Alex’s (and many many other children’s DNA) to try and find a reason why he hasn’t developed as we’d anticipated, as we’d hoped.  That is where we are.

In all honesty, we don’t mind.  There was a point, at the start, where we were desperate to find out how this had happened, but now… he’s who he is.  He’s just Alex.  Developing at his own pace and in his own way.  And he is a miracle to behold.  Those tiny, tiny progresses he makes I marvel at and celebrate every single day.  They are appreciated because they were never anticipated.  And we have found SWAN, a place to call home, where we can talk to other parents who are in the same situation.  And that has been a lifeline.

The co-ordinator, Lauren Roberts, has written a very good piece about the trickiness of not having a label, you can read it here:

Why do you want to label your child?

But for us, although it… would be helpful to have to tick a box, rather than give a 3 paragraph essay on the salient points… would be useful to give people a quick answer, rather than a chat over coffee… would be good to know what was coming, for all of us, just for some clarity in our future,  we’ve moved past the point of needing a diagnosis, have got used to the unpredictability of our son, and all that he is, because of all that he might become.

alex5

Mum, I’m just a unique individual!

A life/ life balance

Something we don’t talk about …that having children has both its ups and its down-sides.

I’m also not just-saying-this when I say the ups far outweigh the downs.  I realise these are clichés, but they are clichés for a reason… I love the fun, the laughter, the added enjoyment that only a child’s perspective can bring to the world (‘Mummy, I’ve been thinking…’) and I would not be without them.  The downsides though – not just the lack of sleep that my already parent-ed friends dangled in front of me as I was pregnant with Emma – but the sheer miracle of getting showered and dressed in the early days, to the never reading a paper to the end like I used to, to sometimes just not being able to hear myself think… should not be forgotten, put aside as ‘they don’t matter’, because they do matter and they make you who you are.  You still need time, just sometimes, to fit these things back into your life.

The ups and downs with Alex are, unsurprisingly, a little more polarised.  The ups are monumental, not only his hard-won achievements, but also the little things from him that mean so much – his ability to put his arms up to be picked up, his hysterical giggling as you once again try to imitate a lion, the fact that he can pick up and drink from his own cup – these are all small miracles.  With Alex, these ups also extend outwards, outside of our immediate circle.  With small exceptions the NHS has been a wonder.  Until, one after the other, his appointments moved from weekly to monthly to annual as one by one everyone looked at the floor and said, ‘We have no idea what is wrong with your son, we have done all the tests we can’, they worked their hardest to figure our little boy out.  On a day to day basis his support team (who I’m fairly sure, gathered together, could turn out their own football 11) work hard with limited resources and dwindling budgets to both progress Alex and alleviate the trickier parts of our life, the parts we hadn’t expected when we said we’d try for another baby, the parts you wouldn’t normally think would be tricky.  I give you: eating out as a family outside of the house… getting him into his car seat without breaking my back…

Lastly, the kindness in people that he elicits is something I can never quite get over.  This includes you all.  You have all done it.  When Alex smiles, people smile with him, it is infectious.  People help me with doors to move his overly-large pram around, they pick up his toys and help me with his coat when we are out… people rarely stare.  People wait for us to catch up, we are not left behind.  He slows our life down, but the kindness that envelops us because of this… it goes a long way to make up for it.

However, the downsides… events this weekend have highlighted these and it would be wrong of me not to voice them.  We could all drop dead any minute, that’s a fact, but we probably won’t.  Alex… well, in my more rational moments, I don’t think he will either, he’s a robust little boy, not prone to hospital stays and good God I am grateful, so grateful for this.  But when he gets ill, he gets ill, and he takes longer to kick it than he should.   A cold that takes Emma three days to get over?  It takes Alex two weeks.  This condition he has, that makes him who he is, this genetic anomaly with no name.  Who’s to say where it will take him?  Who knows what and how long this journey will be?  And these thoughts can sideswipe me sometimes.  Most times they stay neatly in the box marked ‘Too scary to worry about’, but just occasionally they creep out, catch me unawares and when they do… my little boy cannot move for being cuddled, for being told how much I love him.  For he is who he is, a tricky little bundle, but one I can never imagine not being a part of our life.

 

Alex pram

Right Mum, where are we off to today?