Nineteen, gigs, and rare diseases

My love, my hero, my best boy. Nineteen privileged years of him in our lives. 

It’s coming up to rare disease day. CF is the most common, life threatening, genetic condition in the UK, affecting 10,700 people, or one in every 2,500 live births, making it rare. Furthermore, the 10% of people affected by CF that are ineligible for the new CFTR modulator drugs (because either they have mutations of the disease that means that these treatments will not work for them, or because sadly, they do, but they cannot tolerate them) are an even rarer group, just 5,000 worldwide, including our Isaac. Read more on this (from me!) on the CFT website here. 

Right now, Isaac is doing really well. It’s coming up to three months since his last course of IV antibiotics, which is a fantastic run for him these days. I can’t stop smiling. We’ve spent the weekend with family, fully celebrating his birthday. The fact that he can be nineteen befuddles me, in the best possible way. He is getting sick of my random cuddles, but takes it well. He is very much enjoying the break, having spent so much time in hospital of late. Restored with his pup, Remy, he is in his happy place. 

If you are local, a wonderful, long time friend of mine from work, James Dingle, who plays in an awesome band, Sugarbeat, have super kindly chosen to donate proceeds from their forthcoming big birthday gig to the CF Trust. To purchase tickets, please follow this link. It is impossible not to like this band; if you want to find me, I’ll be on the dance floor, and mines a gin and ginger thank you. Please come dance with me!

After collecting money in the cold, all day outside Tesco last weekend with friends and family (we raised over £400), I’m feeling bubble wrapped in love for everything that our F&F do to support us and our fundraising. Thank you thank you thank you, it means so much x 

Among the trees

I watch his shoulders shudder with giggles. His smile is my minds picture. Even though he is hoody up, turned away, I know what his expression will be. His name means ‘the laughing one’, did I ever tell you that? The laugh of your child, ahhh, always the sweetest sound. We spend so much time together right now, at hospital daily, I know without asking that he is watching Remy on puppy cam. He likes to eat pants (the puppy, not Isaac); he owes us more than a dozen pairs so far (…why do we call pants and knickers pairs? It’s not like we have two bums?) and a whole macca cheese; with two-way audio we can freak the dogs out by talking to them through the camera, much to their bewilderment and our endless fun. 

CRP levels (or C-reactive protein, or better still, his CRAP level, as we like to call them) indicate inflammation in the body, caused by infection. While in hospital, he is subject to a massively increased number of tests. While at the party, why not dance? (I’m sure there is an actual idiom for this that I cannot recall, but, ykwim). So we have an unprecedented frequent view of his crap levels and many more test results right now, and they are, well, pretty crap. 

He is spiking almost daily fevers, and then not. He coughs even more, and then not. The sputum results suggest he is already on the right abx, so why is he not improving more? It’s all a bit odd. Next week, he will have more tests for good measure and another CT to try and figure all of this out. He’s not sick sick, but whatever this is, it gets ten out of bloody ten for persistence. It’s been almost a month. We’ve tried numerous oral and nebulised antibiotics, next week we will start IVs once again. Or steroids. We’ll see. In for a penny, in for a pound. 

This years fundraising plans are underway. We kick off with a collection day outside Tesco in a couple of weeks (it’s rare to get a slot for these now - if anyone would like to volunteer to help us, on the 24th, please get in touch) and a friend is organising a gig in July, with ticket proceeds going to the CF Trust (very kind of him). Along with the annual raffle we hold at my work, it’s likely that we’ll smash that magical number of £100,000 raised for the Trust since Isaac was born. Wow. 

A real change to Isaac’s treatment options are closer, but even that means many more months of this (infection, inflammation, extra treatment, repeat). Research and trials are slow, lengthy, complex. It’s like smelling the most delightful food ever, but not knowing quite how we will get to taste it. When we do, it’s going to be a fucking feast, and you’ll all be invited to the party 🎈 

CF facts: Around 10,800 people in the UK have cystic fibrosis; that's 1 in every 2,500 babies born. Cystic fibrosis affects around 100,000 people in the world. Cystic fibrosis is a genetic condition. One person in 25 carries the faulty CF gene, usually without knowing; that's over two million people in the UK. If two carriers have a baby, the child has a one-in-four chance of having cystic fibrosis.

Art at the Royal Papworth Hospital

A scream in a fen

This one is about stress. How I shout in its face and how I try to still my whirring mind. 

I think I have written before about tics? Mine has always been shoulder jerking weirdness. A motor tic. I remember describing this as a kid as the urge to pop my shoulder in and out of its socket. I’m not sure that’s what actually happens, but it definitely used to make a satisfying click. The click has now gone, I’m guessing from wear and tear, and I’m left with a withered old, joint. It aches, pinches nerves, and still, the compulsion is there. It can take weeks after a stressful event for it to calm again, even when I’m feeling OK, those pesky stress hormones swarm through my veins. Now, my (usually annoyingly thick, weirdly curly/not curly) hair is, I think, falling out. Body and mind, eh? 

Right now, we are spending a huge amount of time in hospital (for reasons I can’t go into yet) and I am taking extended carers leave from work, for the first time. But this isn’t a whiny post (…thank god, you say). What I really wanted to talk about is the things that I do to help get through the trickier times. I’m getting deja vu though, so forgive me if I’m repeating myself! 

* Be aware of your own signs of stress and acknowledge them. Ignore annoying platitudes (I despise it when people try and cheer me up with a ‘I’m sure it will all work out!’. ‘ It will be fine!’. ‘Don’t worry!’). Unless you have walked in my kinda shoes, you have no idea. And it’s OK for me to feel things deeply and it’s OK to not feel OK. It’s just not OK to wallow. You are welcome to give me a slap if I start to do that. 

* For me, being with my kids or animals is a cure all. Is it weird that I put them in the same category? 

* Exercise and nature. I’m no gym bunny (icky sweat and running to get, nowhere?) but I walk every single day in the fens. Without that, I feel like I’m lacking air in my lungs. If I’m lucky, I’ll come face to face with a gentle roe deer, or a sly fox will give me side eye, and I feel more alive, somehow. The dogs keep me company. The colour green is calming. 

* Do you ever play that desert island game in your head? Three foods: Cheese, bread, tomatoes. No question. But if I had to pick between music or books? I’d be as torn as Sophie was. I have a million playlists for every mood, but lately I’m trying to get back into albums. It’s what you listen to that is crucial. I tend to lean towards sadder music when I’m down, and just go with it. Nothing like a bit of Disintegration to feel validated. 

* I’d choose a book over TV or film any day. I’m like a sponge for language, dialects, accents, and good books will feature in my dreams and conversations. The girls and I will often adopt an accent for a whole day, and then struggle to stop. I average on two books a month, mostly because I combine dog walks with an audio book. I sometimes have to remind myself to look up and see the world around me. Escapism at its very best. And for me, to have time where I think about something else is key. 

* In the midst of a stressful event you’ll find me quiet, withdrawn, introverted. But afterwards, as I uncoil, poke my head out into the world, and sink into the hugs of my friends and family, I’ll then find offloading cathartic and be able to reflect back more objectively. I’m OK with that, and people close to me get it. That said, knowing that people are there, ready to send a hug? Invaluable. I read an article recently on the lessons shared of the dying (not at all as morbid as it sounds), the most common being to ditch work and spend more time with the people who make you happy. However stressful this event might be, at least I have the best company. 

* Talking to someone can be the hardest thing, but also be lifeline that perhaps you didn’t even know you needed. I’m no good at asking for help, but I’m trying to get better at that. 

* All that said, sometimes all I need is a blow out, imbibe, dance, seek hedonism - if only as a distraction. I’ve also been known to walk deep into the fens and have a little scream. Such a release.

Jeez, I feel better already! More soon x 

Cystic fibrosis is an invisible condition. You can’t see it or what it does to the body. But it’s not invisible to the 10,800 people in the UK whose lives are dominated by it every single day. The challenge of living with cystic fibrosis is invisible. Except to the ones who live it.

Gene therapy FAQ’s part 1

Happy new year, all you lovely people. Ours has been an unusually quiet one (we usually host a party and dance the night away) but for very good reason this year. We’re in a semi lockdown, a pandemic throwback, trying to avoid bugs for fear of jeopardising our hopes of Isaac joining clinical trials this year. 

For a far more thorough and scientific explanation, you can read all about current gene therapy hopes on the CF Trust website, including interview panels of medics and scientists discussing these with the CF community (on which I may or may not appear 🫣). Take a look here. 

But for a far more nonsensical and blunter version, I’ll try and tackle some of the real life questions I have been asked here too. I’m answering these from my own point of view, as a parent of a son with CF, as I’m not medical and only have a partial insight from our own side. 

Is gene therapy a cure for Cystic Fibrosis? 

No, sadly not. The current trials are looking at the lungs only. Since 90% of morbidity in CF is caused by lung disease, it’s a fantastic place to start though. The edited or replaced gene will temporarily help his lungs function normally. This treatment will need to be repeated (frequency varies depending on the type of gene therapy we’re talking about). The treatment will not directly help the other organs affected by his CF (mostly his liver, pancreas and digestive organs) but as his overall health may be improved, it might have an indirect impact. The hope is that it would stabilise his lung health, but it will not undo the lung scarring that he already has. We also hope that with healthier lungs, his current bacterial campers will up and leave. PseudoA has colonised his lungs for 17 years now; an unwanted lodger we all detest. 

When will the trials start? 

We can’t say for sure. We have some anecdotal dates in mind, but we also cannot confirm as we have been asked not to disclose any specific information online regarding specific trials. 

If you join a trial, will he get to continue on the treatment if it works for him? 

Sadly not. At least, not immediately. Many of these trials are in their very early days. First in humans. As such, data will need to be analysed from the trials intensively, and if there are any adverse affects in any patients, they may be stopped all together. If they all go well, there will still be a time where dosing will stop, and we would need to wait for further trial stages. If we did participate in early stage trials, we would be prioritised for latter stages though, so would hope to gain access much earlier than non-trial participants (this is the biggest bonus of clinical trial involvement, for us). From the beginning of trials to actual licensing and general access is likely to be many years. 

But he’s getting on the trial, right? 

This is the worst bit for us right now, as nothing is guaranteed. He needs to pass the screening and stay well enough for the period between screening and the trial. Not easy with a progressive, chronic condition. Even when on the trial, any adverse affects, or an exacerbation of his live-in lung infections, trial related or not, he could be pulled out. 

How are these gene therapies given? 

The current trials are nebuliser therapies. So he would be isolated and breathe in the drug over a period of time, once a day. There would be a huge amount of protocol involved (as there is with all clinical trials) especially as we’d be looking at a new or edited gene being aerosolised in the room, which could affect others, so he would need to be isolated for a period of time after treatment too. 

What if something goes wrong? 

Not something we like to dwell on too much. We know that these drugs have been through many trials already, but almost none in humans by this point. We do know that he would be in the right place, and have two to one care (two research nurses plus doctors at hand) and will be monitored more than he ever has been. Those huge fold out information sheets you get in a pack of tablets? That’s what these kind of trials feed into. If he as much as gets an itchy big toe after dosing? That will be on the list of side effects when prescribing begins. That tickles me somewhat. 

More soon x 

Lollo - her eyes mesmerise me ❤️