The Wilderness Years….

🎉 Friday 29th April 2022 is the day we celebrate all things UNDIAGNOSED with the awesome SWAN UK – Syndromes Without A Name https://www.undiagnosed.org.uk 🎈🎈

Being a ‘Swan’ is not a diagnosis in itself but it is a term often used by parents & some health professionals in lieu of the more convoluted & less friendly sounding “unknown genetic syndrome”

Every year, the last Friday in April is dedicated to raising awareness and much needed funds to support undiagnosed children/teens who make up the rarest of the rare as well as supporting their parent/carers and families.

It’s also a time to highlight the aims of SWAN UK to health-care, social care and educational professionals as well as the general public so they are aware of the work we do and the support we can offer.

Would it surprise you to know that approximately 6000 children are born each year in the UK who (likely) have a genetic condition that is so rare that it cannot be diagnosed? Without a diagnosis, it can be difficult to access even basic support and information. After all, if you don’t know what the problem(s) is/are, how do you know where to look for advice?

Now more than ever before in fact, it is imperative that we spread awareness of SWAN UK as far & wide as we possibly can because Covid 19 has likely meant that there are several thousand children who have slipped through the developmental net.

With so many face to face medical appointments and/or routine checks having been postponed or even cancelled altogether, there are undoubtedly babies & young children who have some degree of special need(s) that have as yet gone unidentified.

Delayed access to information and support can make it even harder to know whether there are any potential issues you should be concerned about and harder still to know who and how to ask for reassurance or investigations if these should be necessary.

Why am I so passionate about SWAN UK? Aside from being the parent of a ‘swan child’ (likely 2 children actually) I am the SWAN UK parent representative for North Yorkshire and have been since 2015.

In fact, it occurred to me as I write this post that my family have been involved with SWAN UK for almost 10 years! (SWAN UK as an organisation has been around since 2011 ) I don’t know whether I should congratulate the team or offer them my commiserations and thanks for putting up with us?!

So how do I write a post suitably apt for such an occasion? What pearls of wisdom can I bring to the party? Oooph, dwelling and pontificating too much on the appropriate way to mark this milestone will undoubtedly result in me missing getting anything written down in time so I will just brain-fart my way through it and try my best to convey how much this fabulous, incredible support group mean to myself and families like mine.

A little about me: I joined SWAN UK after investigative testing on our then 3 year old daughter had come back either inconclusive or ‘no fault found.’

We realised shortly after her birth that something wasn’t ‘right’ and very quickly there-afterwards, matters snow-balled until we had more Doctor’s, therapists and specialists involved than you could count.

Despite the combined expertise of many professionals, by the age of 3, all we knew was that our daughter had some form of neuromuscular disease but every myopathy or neurogenic disorder that fitted her array of symptoms and difficulties came back negative, time after time.

In theory, the old “no news is good news” should have been a comfort; but in practice, faced with a child who had profound muscle weakness, severe feeding difficulties, delayed gross and fine motor skills and a raft of other mini diagnoses, just meant we were terrified of the unknown, of what lay ahead and filled with fear that we weren’t doing enough or our best to help our daughter going forward.

We might as well have been living in the wilderness with only tumble-weeds to keep us company (Ok, I admit have a flair for the dramatic!) In fact I often think of those early years of Minx’s life as “The Wilderness Years” where we pinned every hope on yet another X-ray, scan, blood test or investigation all to no avail.

Living in the UK has meant that though our daughter has had multiple hospital admissions, tests, investigations, therapies and treatments over the years (and continues to do so) we have been able to access high quality care via the NHS, (https://www.england.nhs.uk/get-involved/nhs/) free of charge.

We have over the years also been put forward and participated in genetic testing under The DDD study https://www.ddduk.org and the 100,000 genome study: https://www.england.nhs.uk/genomics/genomic-research/100000-genomes-project/ as well as specific disorders relating to neuromuscular diseases.

Nonetheless and despite huge strides in understanding the human genome and advances in genetics generally, 13 years on we remain totally in the dark and some of the most brilliant medical minds are utterly confounded by the conundrum of Miss Minx as she is affectionally known. Indeed, if we had a penny for every time we have been told she is extremely complex/rare/unusual etc, well let’s just say, I wouldn’t be worrying about the rise in gas/electricity/fuel/food/council-tax ad infinitum that is the current topic du jour! Kerching! 💷💷

As recently as May 2021, our neuromuscular team imparted that only around 30% of people believed to have a condition relating to a neuromuscular/neurogenic disorder have received a formal diagnosis for their symptoms.

Even having had to become something of an ‘expert’ in all matters rare, I still find this astounding! We can put a man (or woman, no gender politics here) on the Moon and into Space, we have technology for self-driving cars, smart homes, research and vaccines that prevent or protect against all sorts of horrors, a vast influx of information at our fingertips at lightning speeds courtesy of the world-wide-web and more (morally reprehensible) politicians than we know what to do with and yet we still don’t have all the answers, better yet, cures, relating to our health & developmental needs.

And although I know (hope!) that medically, therapeutically, educationally and so forth, we and “Team Minx” are doing our utmost to give her every available opportunity in life, being undiagnosed or having a family member who is undiagnosed, can be very isolating at times.

But we are not alone and one of the most brilliant things about being part of the SWAN UK gang is that other parent/carers just “get it” There is an unshakable bond amongst the several thousand group members, (over 3,500 on last count!) because we all have children with an undiagnosed medical, physical and/or cognitive disability.

Even though our young people all present with a myriad of differences and the day to day experiences of caring for our kiddos can vary hugely, collectively we know what it’s like not to have that elusive answer.

In amongst those who have received a diagnosis for their child, it is often the case that the condition is so rare, they may be only one of a handful of people the world over so they have little to no benchmark for comparison.

In other cases, whilst science has provided an answer in the form of a genetic sequence, it might only be a bunch of numbers and letters that in practical terms don’t give any real answers as to what the future holds. And that can be just as lonely and isolating as being out there in the wilderness.

Of all the parent-child groups, clubs and activities that we joined over the years (sometimes grudgingly!) with our 3 older children, I never envisaged feeling quite so lonely and out of the loop, of not belonging as we did when we realised that suddenly we didn’t fit in anywhere in diagnostic terms with Minx.

There are a raft of organisations and support groups for a huge swathe of parental concerns, covering all sorts of parenting styles: baby-led weaning, gifted and talented, gentle parenting as well as medical and developmental concerns: epilepsy, diabetes, fussy eaters, autism, bed-wetters, well I could go on and I certainly don’t mean to be flippant but I’m sure you get the picture…

Despite all my efforts to find a specific group we could join, our daughter’s physical and health needs straddled so many different areas of concern. No singular diagnosis explained the root cause of her issues and if there was a nice, neat little tick box, a place we could BELONG to, to hang our hat on, I really hadn’t found it. In some ways joining the groups for individual aspects of her conditions made me feel even more alone because there were still so many areas that couldn’t be explained. It only highlighted the ‘otherness’ of our situation.

I’m a do-er by nature, always busy, someone who likes to research and seek out information, to educate myself and throw myself whole-heartedly into things I feel passionate about. I suppose it boils down to the knowledge is power thing (pipe down with your control freak denouement!) But I felt utterly disempowered, at a loss, not even knowing where to begin. I was hungry for detail, hungry for someone else to say, their child was just like ours (ta-da!) and ultimately that IT WOULD ALL BE OK. I needed a light-bulb moment but we were decidedly in the dark…. Until we found SWAN UK…

Of course there are certain ‘clubs’ no parent-carers ever want to be a part of: childhood cancers, uncontrolled epilepsy, infantile spasm, progressive/degenerative conditions and ultimately, child loss.

Sadly, many parents are unwilling members of these collectives, especially the latter, bound together by gossamer threads of frailty, fragility and grief and it is, devastatingly, something that touches some (always too many of) the SWAN UK parents, if not directly then by our shared experiences. 💔

You would be forgiven then for imagining that our on line presence, our support groups, local community events, in person get togethers, coffee mornings & days out (pre pandemic!) are overwhelmingly sad, pervaded by gloom & tinged with despair; you might even worry that being a part of this would be too much, too intense or too scary to contemplate. But I know personally, as do so many of the wonderful fellow SWAN parents I’m lucky enough to call my friends, that SWAN UK is so very much more than that.

It is an outpouring of light, laughs, of shared experiences; a hive mind of useful information & suggestions, a go to for sign-posting, support, of sympathy, empathy & everything in between & then some. It’s conversations about poo or the lack of it, (surprisingly a topic we are fervent about!) It’s a wobble about what the future holds, a celebration, a commiseration, a warm embrace that you can dip in & out of at will. It’s available 24/7, 365 days a year.

Please help us continue to support undiagnosed children and their families: https://www.undiagnosed.org.uk/donate/ Thank you