Swimming with the Swans

Today is Undiagnosed Children’s Day, the 13th annual day to help raise awareness of SWAN UK, which supports families like mine who have children with a genetic condition rare enough that no-one’s worked out what it is – yet. It stands for ‘Syndromes Without a Name’, and is a simple, but powerful, Facebook group for people without a community, to find a community – but they need help to get the word out so that “no family is left behind”, as their motto goes.

I’ve written before about how Patrick is an analytical type, and how difficult he in particular finds it to not know what the future holds. A diagnosis is something people can cling on to, or hold out hope for, assuming that it will bring answers, and maybe even treatment, if not for your own SWAN (which is how group members tend to refer to their children, but it might shock you to hear that Patrick and I haven’t quite embraced that one, yet…), for someone else’s.

And you can too! Just visit Undiagnosed Children's Day - SWAN UK - JustGiving

But increasingly I’m realising that this isn’t the case.

Pretty much every time someone on the SWAN group posts to say they’ve had a call – often after years of no contact – from their genetics team, it can be an anxiety-inducing, fear-laden and sleep-interrupting damp squib, so it’s vital that they have a place to go to share and process that among people who understand.

There appears to be no clear NHS plan for this part of the care programme for genetic disorders. Maybe it’s because genetic breakthroughs are still so rare. Most, if not all, of us SWAN UK members will have had Whole Genome Sequencing carried out on our children, and many (although sadly not us, yet), have been able to participate in incredible programmes like the 100,000 Genomes Project. Some have been lucky enough to get diagnoses through the unbelievably impressive work of individuals like Nicky Whiffin from the University of Oxford and Obi’s genes are all over international databases in the hope someone will find something that matches the tiniest piece of his genetic data.

But based on the experiences we’ve seen in the SWAN group, it seems that if that happens at any point in the future, we’ll be alerted by a letter out of nowhere, or a cold phone call making an appointment without any context. Parents do not respond well to this, it seems. If they’re about to get a diagnosis, will they find out their child has a life limiting disease? Will they discover there’s a cure but their child is too late to benefit?

What if it’s inherited and it’s all their fault? Or – and this is why I’m now more ambivalent about a diagnosis than I used to be – what if it’s just a random collection of letters and numbers, and nobody else in the world has the same condition? Or maybe there are a handful of others and I can see some similarities, but they’ve got other things wrong with them too so I can’t make direct comparisons?

These out of the blue communications are clearly not good for the mental health of the parents receiving them, but the SWAN group is there as a sounding board and from what I’ve seen, does a remarkable job of helping people cope. So much so that when people do receive diagnoses, if there are only a few people around the world with the same disorder, they often remain members of SWAN simply because there are still so many unknowns.

What of Obi’s hopes of diagnosis?

Whiffin and her team recently discovered the remarkably common ReNU syndrome, a fault in the RNU4-2 non-coding gene (i.e. not the sort of gene most studies have focused on before now). It causes neurodevelopmental problems just like Obi’s, and in an article in The Times, we recognised the symptoms, behaviours and facial characteristics of the journalist’s child who had just received their diagnosis, with similar abnormalities in brain development.

So, obviously, we contacted Obi’s geneticist and ever-supportive neurologist. We asked if he could be tested for this new syndrome, but… no.

“The gene RNU4-2 was only added on genetic testing in 2024 so Obi would not have been tested for this. Re-analysis of negative whole genome tests is done periodically after a few years to ensure coverage of the newly discovered genes. When this is done is variable…”

It will probably be a few years before Obi gets retested for newly discovered syndromes, and in the meantime, AI-powered tools are being developed thick and fast, which match physical symptoms and genetic data to try to identify a diagnosis, because despite the fact ‘Whole Genome Sequencing’ says ‘whole’, it isn’t – it’s too expensive right now and testing has to be focused on certain ‘panels’, e.g. anything related to microcephaly or abnormal brain development.

But what if Obi got diagnosed with something so rare, we just found another Facebook support group with three families spread across the world. Imagine still having no idea what the future holds, and yet no longer have any hope left to cling on to for answers. I’m not sure I even want a diagnosis.

But either way, we all need a community

SWAN UK doesn’t raise money to fund research, like its parent charity Genetic Alliance UK. And it doesn’t raise money to send children with undiagnosed disorders on incredible trips of a lifetime. It doesn’t even raise money to give carers respite. But it does raise money to give us a place to go to vent, to ask questions, and to compare stories. And more than that, it gives families a community of others who don’t fit into an existing bracket. I can see by the comments on the group what a lifeline it is to so many parents, whether they’re meeting locally for a coffee or on a little day trip together, it’s a home for the homeless, and I hope you’ll please consider donating today...

P.S... Especially because Patrick bought me the unwanted gift of entry to the Virtual London Marathon this weekend, for which I've done no training (I'm not exaggerating) and have no real interest in completing, other than to stop him telling me I'll get a medal. Perhaps I'll walk the whole thing?! But your donations would, I'm sure, spur me on to complete it, one way or another!