Friday, 29th April 2016 is Undiagnosed Day. Syndromes Without A Name (SWAN) UK are a charity that offers support and advice to families with children who have undiagnosed genetic conditions…
Until we had Brody, I lived in a disability free bubble. I admittedly didn’t spend much time thinking about disabilities and I certainly didn’t know that 6000 children are born every year with a genetic condition that is likely to remain unknown. Fast forward 4 years and I am only too aware of this.
Today, we had a long awaited follow up appointment (rescheduled 3 times until I complained) with one of Brody’s paediatricians. I left – yet again – deflated with no answers and no hint of a plan or diagnosis. My Mum (AKA best Mum ever) said to me as we left “I don’t really know what you expected him to say”. Maybe I didn’t expect, but I certainly hoped, as I do at every appointment, that he would have a plan in place to find out why Brody is – as he put it – significantly delayed. As much as I know they have no answers, it doesn’t mean that I don’t hope that they will try to find one. I leave every one of these appointments feeling like I’ve been hit by a ton of bricks all over again. It’s like everyone expects you to shrug off living a life in limbo. It doesn’t get easier. Maybe one day it will.
Not every SWAN is the same – we all have our own unique story to tell because our children are unique. For some it was obvious from the very start that their child had a disability, for others – like me – it wasn’t.
Brody was born on Friday, 13th January (*eyes roll*) 2012. For a blissful, I’d say 10 months, I was unaware that he was different to a typically developing child. It really began with weaning and textures (and endless vomit). I’d then spend another 10 months or so battling my thoughts as family, friends and health professionals told me that he was just slow. He was my first child and I didn’t know any different. Maybe they were right? Then one day (following a god awful week of events that I won’t bore you with) – Brody had 6 seizures. He was 22 months old.
From that day, health professionals started to take notice and so began our Global Development Delay journey and endless appointments and tests – paediatric, OT, physiotherapy, dietician, ENT, Educational Psychologist, Orthoptics, Orthotics, MRI, EEGs, TAC meetings, yadda, yadda, yadda!
So, what does Global Development Delay mean? I admittedly think to myself “isn’t it self-explanatory?” when people ask – but clearly it’s not. This is mainly because delay for most means can or may catch up. I doubt I’m alone in clinging to this notion when I first heard the term associated with my beautiful boy. Now my expectations of him catching up have shifted somewhat. Sure, I’d love a miracle. I would love for life to be easier for him – and for us. And let me tell you he is amazing and takes everything in his stride, despite not having it easy (usually with a big smile on his face). I would LOVE for him to talk. Communication is seriously taken for granted by too many parents tired of hearing “why?” “no” and “are we nearly there yet?”. You really know the heartache of having a non-verbal child when they are unwell and can’t tell you what’s wrong. It is just awful. Life is a constant guessing game. Where’s Mystic Meg when you need her?
The truth is Global Development Delay usually means “we don’t know”. No diagnosis. It can vary in terms of severity. It leaves parents with endless unanswered questions. Will my child ever talk? Will he ever be able to ride a bike or jump on a trampoline? Will he always live at home with us or will he be able to care for himself as he gets older? Fear of the unknown is something probably all of us SWAN parents have in common. Let’s face it – it’s petrifying to not even know whether or not your child has a life limiting syndrome.
I live a life consisting of what if, should of, would of, could of and if only. Brody has a lot of conditions common in GDD kids – he is non-verbal, has hypermobility, hypotonia, epilepsy and sensory processing issues. Thanks to google (every SEN mum is a google queen right?), I am also aware that these are common in other syndromes. However, Brody ticks boxes associated with a lot of things – but never every box. At the tender age of 4, I’ve diagnosed him myself a thousand times already.
There is the DDD study of course, which I feel is our only hope of a diagnosis. Yet, parents wait years for an answer and many still don’t get one. Honestly, some days I don’t know if I want a genetic answer – which will still probably leave us without a prognosis! It would give us a reason though.
Frustratingly, for many no diagnosis can mean a lack of support from professionals and an absence of understanding from friends and strangers. It’s a lot easier when you can name a disability. People are a lot more accepting of a name than they are of an unknown. There is also the isolation factor – not having a group you can fit into. Where’s the common ground?
If you’re in the same boat as me, I am with you on the hard days and trust me – I know it’s not easy. I know, like any parent of a child with disabilities, that some days you are exhausted by the worry – a constant weight on your mind. Some days you can take things on the chin, other days you hold back the tears until you get in to the car/close the front door/put your head on the pillow at night. I’ve sat in those meetings where professionals talk about your child without emotion and you feel like you could just crumble there and then.
Our kids are so precious, so important and so loved. Our mission in life is to ensure that we can help them and give them the support they need to reach their full potential, whatever that may be. Most importantly of course, we want them to be happy. Love carries you through the hard days, weeks – life. Like any parent – you do your best.
Brody has taught us so much. Pure unconditional love. To smile, laugh and appreciate the simple things in life – things that so many people take for granted. We try to focus on what he can do – which is lots – and not what he can’t. Some days that is easier than others naturally. I recently read that “grieving the losses is not compatible with celebrating the triumphs”. How true it that?
Our son is the perfect little boy and he is awesome. Diagnosis or no diagnosis, we will fight to ensure he has everything he needs, whilst hopefully keeping that beautiful smile on his face.
DDD study, ?. We are waiting too. Our Jenn is almost “normal”. Well to the untrained eye and ear. I knew from birth but was lied to. I now know this by reading the medical notes. So far she has no signs of learning disabilities, just speech delay (cleft palate), anxiety, phobias, frustration, low muscle tone, challenging behaviours, dental issues, anal issues including constipation and dysmorphic features. Daily therapy, medications and hoping for the best and we stay just about sane. Every appointment leads to more not less questions and far more fear.
Thank you for your blog. I’m glad to have found it.
Thanks for sharing with me Lisa. I hope you get answers. I know it’s frustrating. Hug from one mum to another.
I’m Falkirk way (see you’re Fife). I’ve a Facebook group with a friend for ASN parents round this way. You’re welcome to join. X
Hello Lisa & Laura have Jenn & Brody been tested for 22q Deletion Syndrome? A massive study in the US has just shown the rate to be 1 in 1000, the most common chromosome disorder after Down’s, yet hardly anyone knows about it. Cleft palate is a big red flag. Our daughter Emily (3) has it, was diagnosed “by accident” in 2014 when they were looking for something else. I’m in London but happy to talk.
I’m sorry I missed this comment. I’m not sure. He’s had micro array testing done and is now on a developmental disorders study. I wonder if they will check for that in this. Thank you x
My daughter has dup15q microduplication . Have you asked for genetic testing? Did you know you have a right to do so? We had a long road to diagnosis. Going through tough times with my little one and stumbled across your blog. Empathise with so much that you say. It helps as often feel on a total parallel universe to other mums with the issues we face. Thanks for expressing all these challenges and emotions.xxx
Thanks for your comment and kind words.
We’ve had micro arrays done a few years ago and nothing showed, so now on the DDD study. If nothing comes back, hopefully we can try the genomes project. I feel like we will probably never get answers now. We’ve just had an autism diagnosis but only really because I pushed for it. It doesn’t explain everything so still without a primary one.
Sorry to hear you’re going through tough times. I often find my emotions are like a yo yo. Keep swimming xxxx