So today is Rare Disease Day. Which is a reason to dust off this blog. Alright, scrape the layers of dust off this blog. With a large shovel (a snow shovel…I’m nothing if not timely).
It’s been a little neglected of late. With reason. It’s been a funny sort of year. Not ha ha funny…ok, actually sometimes unintentionally ha ha funny. Like living in a weird statutory services sit-com. A social care manager, a health manager and a rare disease patient walk into a
bar grimly lit meeting
room……hilarity ensues, I assure you.
And that’s why today has given me a reason to write. A reason to have a reason. Because so much of what has happened has been down to one fundamental problem. We are rare. My son’s undiagnosed condition is so rare it comprises a number of symptoms no one can put a name to. Which is generally ok. We have an amazing medical team of super science bods who we trust. We get to go to fab hospitals and see the NHS at its absolute best. However, where things become more challenging is in community services – where we need to tick boxes. Because when things aren’t ok, a little bit wrong can become a lot wrong pretty fast. When you don’t fit into systems and processes – that’s when rare can be naughty-sweary-word levels of frustrating.
And whilst, when it comes to the challenges of the system, I have never been one to stay quiet (I know, I know – it’s mightily annoying)…this time has been different. Because it has just felt pointless. I’m increasingly aware that our landscape is so obscure, so isolated from the mainstream track – it is impossible to visualise. I can’t explain why it matters without an orientation, a compass, some hefty hiking boots…and wine (you will be needing that). If I was to say ‘we’ve just been in hospital’, that makes sense. That’s the kind of challenge you would expect to hear. If I was to say ‘I’m feeling unempowered due the intricacies of the community health framework and lack of integration with social care, particularly when forced into personalisation agenda when none of it is actually personal…and if I have to do one more assessment that I can’t answer, I’m going to rip it up and dance in it like pretty, pretty confetti.’ Then I think you would be a little more…huh?!? (See, I was right on the wine wasn’t I?).
I’m also hyper aware that we live in an increasingly hyper aware world. Everyone has opinions on everything - and they are quick to voice them. Having recently made efforts to step out of my own echo chamber and look across viewpoints, it’s all a bit scary biscuits out there (note to self – stay in echo chamber. It’s warm and cosy.) So it can seem easier to just not have an opinion. I wouldn’t say I’m a millennial snowflake….purely cos I’m just too old. But I’m close to it….frosted tips if you like. My generation don’t really have a name. I looked it up and I might just sneak in as an ‘older millennial’. But that sounds a bit, meh. Like ‘mature student’ – we show up late to the party and don’t even bring anything. ‘Younger Gen X’ sounds a lot more fun, but then I’m not sure I quite fit – I don’t really remember The Word being on, plus I really like avocados. Ambivalent on unicorns though – so who’s to say.
But, generational confusion aside, Rare Disease day has given me a reason to write. To try and explain why it matters. Just for today. So this is why rare matters to us.
1) We have no pathway.
I know. BOOORRRRIIINNNG. I just said pathway. That’s NHS speak. But it matters – so, so much. Imagine if you decided to move abroad. Let’s go with Iceland. You are now permanently moving to Iceland you lucky sole – you’ll be partying in Reykjavik in no time. You’d make plans. Apply for a job. Get some (frantically googles)…Icelandic Krona. Book your flight to (frantically googles again, this time adding ‘and not the frickin supermarket’)…Keflavik International Airport. You’d be on it. You’d be ready.
Unless you weren’t. What if you knew you needed to move, but bits were missing. You had the Krona, but no flight. You had a job interview, but no way to learn the language in time.
That’s what it’s like to have no pathway. Sometimes nothing makes sense. At all. An entire room of people can agree that something is logically needed, yet it can fall under no one’s remit. Pathways matter because the system is designed to meet them. If you are rare, you can fall through cracks. For example, in our area, Continuing Healthcare handed much of the co-ordination of services to Community Nursing. No one thought a child would qualify for Continuing Care and not Community Nursing – until us.
2) We don’t have critical mass
There are a lot of rare disease patients out there. 1 in 17 in fact. But that spans across many different conditions, all presenting differently. That makes advocacy and influence a challenge. Take it down to a specific region and it’s even harder.
We can be equally obscure, but in totally different ways. So we are often forging a bespoke path, supported by others, but creating it alone. And that can be tiring. Very tiring.
3) We’re rarely in the budget (oh, I could just run and run with these puns!)
Times are tough out there. Budgets are stretched. And the more they are stretched, the more cuts have to be made. The tighter criteria have to become. The less leniency can be offered.
It must feel equally hard for those having to make the decisions or represent us. I do see it. The little nods of support. The look of resignation. I know sometimes I’m not the only one in the room who wants to dance in that assessment confetti.
Following a string of health events last year we found ourselves in between health and social care. Our qualification for health was tenuous, but social care services were not set up to manage the intricacies of health support. Throw in the fact that no one actually knew what happened to our son. Was it unusual seizures – possibly. Was it his airway – possibly. Was it aponeas – possibly. Possibly doesn’t work in assessments. People need definitely.
When you are rare, you can easily belong to everyone and no one at the same time. Sometimes a rare case all be a bit 'yours, yours...well you touched it last.'
4) We fall through the cracks
In all of this, we still didn’t qualify for community nursing. Despite the fact that at his worst, my son could have 50 attacks of paralysis per day, we have never qualified. We have no ‘active nursing need.’ Watching him have obscure neurological events is not a nursing need.
Fair enough. Until it becomes a gateway.
In our area, community nursing is the gateway to services. It is what enables a child to be assessed to travel on school transport with someone medically trained. If you do not qualify for that, not only do staff receive no training, they are not supposed to intervene, just call 999. For two years we had battled this. For two years we had queried where the risk assessment was. Why being this rare was instantly classing us as ‘no health needs’ when our son would go into a paralysis attack on most car journeys.
I won’t go into details of how and why that has changed, no matter how etched on by brain it is. But he proved the point. He proved it with a string of unexpected events. But thanks to an astonishing bit of luck - he did this at school transport time, on a Saturday. It happened at home, with us. Whilst our poorly managed attempts to intervene at home weren’t done as quickly as they should have been - they were done. We got him on the floor. We positioned his airway. We clumsily remembered the training we had been given years ago for exactly this type of event. We’re now more ready. And so are his fabulous new transport team.
5) We’re just a bit weird
It’s ok. We're kinda fine with being weird (supremely quirky if you like). It can just be difficult to explain. Near impossible in fact.
We don’t know where we are going. And we don’t even know where we’ve come from. I can’t give concrete answers to anything.
Whilst we have fabulous support from other rare and undiagnosed families, we have no direct comparisons to make. No one to sense check the specifics with. No one to tell us we are being unreasonable, or that we aren’t pushing hard enough.
No one to tell us to shout louder, or pipe down.
So for now we’ll just give a casual wave and say Happy Rare Disease Day.