theaandnatesmam: 10 years of SWAN UK- Undiagnosed Children’s Day 2021

For those of you who don’t know SWAN stands for “Syndromes Without A Name”. A community of us, the “outsiders”, living with family members who have an unknown genetic condition. But what is this madness you may well ask, how can people not have a diagnosis? Well truthfully for many families their children present with combinations of symptoms/ clinical diagnoses never seen before. Or they differ to those usually seen. Health professionals need to have an idea about what to test for.

Nate is almost 11. When he was born we were devastated to hear Drs thought he had a genetic condition, and that it was likely so severe he wouldn’t live very long. We were then a bit confused and frustrated at their admission they didn’t know which condition Nate had. No smart phone around in 2010 and I hung out of the maternity ward windows trying to get signal on my phone to Google genetic stuff or any syndrome even mentioned in passing. On every ward round Drs had noticed something else unusual about my son. We seemed to be playing dysmorphic feature bingo. Which was more than a bit shit.

The genetics part of my degree certainly didn’t cover this sort of utter bollocks ( or maybe it did and I was too hungover...).

The real “lowlight” of those early days was meeting a geneticist and watching them hmmming while inspecting my little baby boy, photographing his “flaws” for discussion with colleagues in an attempt to diagnose him. The relationship did not recover from this initial meeting, which will surprise no one.

We gathered equipment over that first year and eventually I bonded online with another Mam over the fact our children stop breathing and turn blue, and neither had a diagnosis. Emma, mate, I love you forever. Eventually we discovered that a charity had received funding to begin supporting families of children without a diagnosis. SWAN UK was live online. I think we began as a close knit group of 12 which grew slowly for the first few years before expanding exponentially. For those first years, while the group was small, I would say we knew the ins and outs of every bit of each other’s lives. We despaired at our treatment by professionals, at fob offs and condescension. We supported each other through tragic times. We smiled and laughed with dark humour to keep on swimming. We kept each other going. Or that’s what you all did for me anyway. As SWAN gained momentum the online community grew bigger, and the support provide expanded. We met up with our “swans” at local mini events, and then at larger group ones too. Our children played, the siblings ran wild comfortable with each other. The SWAN mams went through years of legendary 6monthly piss ups in cities around the country ( those were unofficial SWAN meets of course).These women are friends for life. They get it. No one else can truly understand the emotional rollercoaster of living with the unknown. Or that feeling when the geneticist asks if you and your partner are related...

Naturally over time we have drifted apart, our lives are really busy, many of us work, complications increase as our swans or swan graduates get older, and devastatingly many of these beautiful children have passed away.

But I know if I needed them these ladies would be there for me like a shot.

SWAN, headed by the wonderful Lauren provided us with a platform to have a say, and to be able to help implement real positive change for the undiagnosed and rare community. I’m not a massive fan of awareness days usually but raising awareness that a HUGE number of children and adults live their lives or part of their lives without a diagnosis is incredibly important. Getting a diagnosis is important but so is ensuring that those working with undiagnosed people know how to do so in a productive joined up way. Not having a diagnosis should NOT hinder getting the care, treatment, or equipment you need. I remember an OT being reluctant to adapt things in our house because Nate might “get better”. Fucksake.

Ah and the endless questions from everyone from some random woman at a bus stop to a nurse in hospital:

“What’s wrong with him?”

“What’s his diagnosis?”

“What’s he got?”

“Can they fix him?”

“Did you know?”

“Can they test for it?”

Now what I always wanted to reply with was “fuck off” but apparently that’s frowned upon. Mind “UM, we don’t know” doesn’t go down much better and is met with incredulous looks.

Over the years our family has been supported massively by SWAN and while I wasn't working being involved gave me purpose. I’ve acted as a local SWAN rep, I’ve spoken on committees and at events, I’ve written articles and even recorded a session for Radio 4’s the The Listening Project. I’ve had the privilege to meet the most amazing families, and I’ve been listened to. Nate did receive a very rare diagnosis and so we are technically “swan graduates”. Nate is rare even within that small group of boys and men, although the community is fantastic and a wealth of knowledge and experience. This means I rarely dip back into SWAN. The families there are where we were many years ago, and our needs have changed with time.