Celebrating #roarsome children with undiagnosed genetic conditions

Image of a roaring lion with the words of the article: celebrating #roarsome children with undiagnosed genetic conditions

It’s Undiagnosed Children's Day. It is hard to believe that it was seven years ago that Lauren (now of SWAN UK) and I began Undiagnosed Children's Day (It used to be called Undiagnosed Children's Awareness Day, but that was too much of a mouthful). It's great to see it is still gaining momentum year on year.

When I first broached the idea of starting our own awareness day, children with undiagnosed genetic conditions were still 'the children in limbo'. Hospitals knew undiagnosed children existed, but considered gaining a diagnosis to be a journey that all children travelled on to get somewhere else, not that some children got stuck on route for their entire lives. Education and social support was diagnosis led rather than needs led and if you told anyone you had a SWAN child (Syndrome Without a Name) they would have looked at you as though you were talking gobbledygook.

Now SWAN UK has grown into a huge community, and we've seen other communities popping up in other parts of the world trying to achieve similar aims. People are definitely more aware that children like mine exist (all three of my children have an undiagnosed genetic condition that affects them to varying degrees), and undoubtedly changes in legislation and acceptance that SWANs with complex needs require better, more joined-up management by two of the country's leading children's hospitals, reflect this slow but steady growth in understanding.

However, families still face unique challenges on a daily basis because of their children's undiagnosed genetic condition. To reflect this, SWAN UK has chosen the theme of 'lions' this year for their awareness day to symbolise the bravery shown by children, young adults and siblings affected by undiagnosed genetic conditions. You can join in and follow SWAN UK's conversation on Twitter and Instagram and by using the hashtag #roarsome.

In honour of Undiagnosed Children's Day we are delighted to be able to share a piece that Laura Parkes, one of the SWAN UK parents, has written about their experiences raising a child with an undiagnosed genetic condition.

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Raising a child with an undiagnosed condition by Laura Parkes

Hi, we’re the Parkes! Mummy (Laura) who is a florist, Daddy (Steve) who is a Leisure Management Consultant, big sister Chloe (seven), and Charlie (five) – our very own mister complex swan. Charlie’s specialist subjects are farming and construction. He is obsessed with anything related to these topics and we very much live and breathe diggers and tractors as a family due to this.  He has an absolutely wicked sense of humour and is unbelievably cheeky.  

Issues with Charlie started in pregnancy. We were told at our 20-week scan that he seemed to have an abnormality in his brain and also excess fluid surrounding it. After further tests, and more in-depth scans, we were warned at 30 weeks that there was a high chance he would struggle developmentally with things like walking and talking. I was also very poorly during Charlie’s pregnancy with hyperemesis gravidarum, and spent countless weeks in hospital on fluids and steroids.  

Charlie has smashed every goal and expectation anyone has ever had about him. He has ripped up the medical textbook and rewritten his own like many of our swans.  He has been through more tests, procedures and surgeries in his short life than anyone should ever have to but all with a cheeky smile, and he has made many people giggle along the way. Chloe too has taken everything in her stride – from helping with his medical cares, to adapting to changes in routine at any given time, like when we’ve needed to rush to hospital. She is fiercely protective of her little brother and is a true super sibling!  

Charlie struggles with the world on a daily basis, due to anxiety, sensory processing issues and the need for routine, but he continues to push himself to ‘fit in’ and do the same as his peers. He attends a mainstream school with some extra input and support and has surprised us all with how well he is coping while there. It is very often a different story when he comes home and is in his ‘safe place’, often exploding with all the emotions he has kept in all day.

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Helping Charlie keep himself calm

We have worked really hard with him on finding ways to help him regulate and calm himself, often meaning he wants a bath (or multiple baths) after school as he finds water really relaxing. Everyone and everything in the bathroom gets wet, and he spends more time under the water than above it, but it works. He also takes himself off outside to dig in the mud or his sandpit with his diggers and he’s currently excavating the patio – this kind of big heavy work is great for Charlie. 

He spent the vast majority of the first two years of his life in hospital about an hour away from home. This was a huge strain on all of us as a family. We’ve travelled all over the country to see various specialists and get second opinions. Multiple appointments and therapies a week are not uncommon. Although as he’s grown he has become stronger, and is thankfully leading to less emergency hospital admissions, he does still get poorly a lot more than other children. 

We’ve had to battle and fight for everything, every service, every bit of extra support and equipment. Not having a diagnosis very often means you don’t tick boxes, and not ticking boxes means it isn’t straightforward for funding. It’s not easy, in fact it can be exhausting… And oh boy, there is soooo much paperwork! We’ve learnt to laugh rather than cry and appreciate the smallest things. 

We’ve lost family and friends, I’m sure of it, and have been accused of making up Charlie’s problems, because we don’t have a diagnosis people can just search online. I particularly have struggled with my mental health as a result. I have been accused of ‘it all being in my head’, ‘lying’, ‘making it up’ and even actually making Charlie ill for the attention.  

We are so very proud of both Charlie and Chloe in the way they cope with what is our ‘normal’. I’m 100% sure that Chloe, at seven, knows more about Charlie’s medical conditions than some professionals.

How SWAN UK helps us

SWAN UK means we are not alone; we don’t have to fight the battles that come with having a ‘complex’ child without a diagnosis on our own. There are always SWAN UK members ready to give advice or even just lend an ear. I see SWAN UK as backup. The question, ‘what do you mean he doesn’t have a diagnosis?’ means me directing them to the SWAN UK website and a brief explanation of rare syndromes without a name. 

Having an undiagnosed condition has made us stronger as a family. A diagnosis would probably make things easier, as people wouldn’t question it. It might mean they could find out more about the condition. Paperwork and forms would probably be a lot easier and quicker to fill out with a named condition rather than a page of ‘this is Charlie.’ However, regardless of these challenges, we’ll face whatever the future throws at us. 

For more information about how to get involved with Undiagnosed Children's Awareness Day or about SWAN UK be sure to head over to their website, and as always leave comments below telling us about your amazing SWAN children or their siblings and why they are #roarsome.

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Renata Blower

Parent Advocate/Blogger at Just Bring The Chocolate
Renata is a special needs blogger at Just Bring The Chocolate. She is the parent of three children. Her elder son has Asperger's syndrome and added extras and Dominic, her youngest child, has an undiagnosed genetic neuromuscular condition that means he has complex medical issues and is a full time wheelchair user. She also has a very patient and slightly neglected daughter.
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