There is no day off from CF

Isaac hasn’t been feeling well for a while now. We’re in contact with his CF team often, and hope for some test results next week. He is struggling with low sugars (reactive hypoglycaemia, manageable, but difficult with his digestive problems), joint pain (investigating CF related arthritis), vomiting (not new), significant weight loss (still not understood) and the usual coughing. What can I say? CF well and truly SUCKS, I won’t gloss over this fact. What would be the point, in a blog about our lives with CF? 

People often ask me if Isaac is working right now. Sadly the truth is that his current job is to do treatments, attend frequent hospital appointments, engage in discussions about possible clinical trials which we hope to join (we spoke with the team at the Royal Brompton this week, which gave us new hope) and manage symptoms. This is more than a full time job; the hours are unpredictable and long, the pay and pension - non-existent, the social life - terrible. 

This week I’ve even had to help him sit up to take meds, to get out of bed, to hobble down the stairs due to the pain. Everything about this makes my cells scream and my mind weep. This is a completely useless emotion; but it all feels so fucking unfair. 

All that said, in other recent weeks he has been up and able to work on his new extension, at least in short stints (which he has to pay for later). I can’t remember if I said, but we’re building a room off the back of what was our garage, as his current bedroom is tiny and this will give him a larger room and en-suite, and at least the feel of a bit of independence and privacy in his own space (it’s not attached to the house). We’ll have him in before Christmas, and will post pictures then. It’s looking fantastic, and he’s been involved throughout, which is lovely. Today, after throwing up and before falling asleep on the sofa feeling crappy, we enjoyed a dog walk in our favourite woods. It’s all about the small wins. 

In other news, Anouk is smashing all her revision and exams (she took one GCSE a year early and got an A* - my amazing girl!). Now in year 11, her hard work, zest and intellect fill me with those mushy feelings of enormous pride, almost as much as her empathy and huge heart have always done. Rosa, our force of nature, while struggling with school and academia, is flourishing in her own ways. Our time with the dogs and horses together is my favourite part of each day. Love, love, love x

Cystic Fibrosis is a life limiting, genetic condition, affecting some 10,000 people in the UK alone. CF sufferers often, as a last resort, need to trade in their damaged CF lungs for the lungs of a generous stranger. To sign up to support organ transplantation, please visit https://www.organdonation.nhs.uk/ and tell your loved ones of your wishes, as even when signed up, the decision becomes theirs after your death. Thank you. 

Rub your soul against life

Isaac is stable. IV’s seem to have done their bug massacring trick, for now. A fight we never truly win. We are still waiting on test results to understand his weight loss/fatigue/general feeling crappiness. 

I had a major wobble when it struck me that an additional diagnosis (CF related diabetes or other) might leave him ineligible for clinical trials in the near future. A rug that we’ve been comfortably stood on for the last year or more was tugged and my mind fell. It’s the not knowing that kills me too. 

For now we wait. I try and calm my palpitating heart. Isaac is heroic. My girls, friends, family, dogs, and horses (not ours, but very kindly shared with us) help plateau my fluctuating mood, and my heart smiles again ❤️❤️❤️

Cystic Fibrosis is a life limiting, genetic condition, affecting some 10,000 people in the UK alone. CF sufferers often, as a last resort, need to trade in their damaged CF lungs for the lungs of a generous stranger. To sign up to support organ transplantation, please visit https://www.organdonation.nhs.uk/ and tell your loved ones of your wishes, as even when signed up, the decision becomes theirs after your death. Thank you. 

Horse show with the beautiful Gjosta (thank you Nev!) - cuddling my girl. 

Rare picture allowed of Anouk, Rosa and me without facepalm. 

Camping hot tub night with Lemon, Gra and Ned ❤️

Our newest love, Skyfaxa. Icelandic horse love. 

Gjosta & Rosa. 

The most important part of a story is the piece of it you don't know.

Lung function is miserably down. Cough is persistent and sometimes, pretty explosive. 

We kicked off IV antibiotics again yesterday. But further to this, he's also lost 9k in a very short amount of time. The reasons for this could be the constant cycle of infection (feels unlikely, as he doesn’t usually lose this much, this quickly), something more sinister (he will have a full chest and abdomen CT with contrast next week to assess; the gift of CF increases odds for certain cancers too), or, most likely, Cystic Fibrosis Diabetes. 

CFD (previously referred to as CFRD, the R being ‘related’ but now renamed to stress the direct specificity of this disease) shares some similarities with both type 1 and type 2 diabetes but is unique and only affects those with CF. It is manageable, but insulin dependent, and associated with worsening lung disease. 

CFD explained on the Trust website: Cystic fibrosis diabetes (CFD) is a common complication of cystic fibrosis (CF). CFD is a condition linked to a small organ called the pancreas. Most people with CF are pancreatic insufficient, which means the pancreas doesn’t work properly. The pancreas is an organ which has two important functions: making enzymes to help digest your food and making a hormone called insulin, which is important for keeping your blood glucose levels under control. Your body converts the food you eat into energy. You need this energy for exercise, everyday activities, and thinking. Most of this energy comes from carbohydrates, which are broken down into glucose. Insulin has the job of moving this glucose from your blood stream into your cells where it can be used for energy. In CFD, the pancreas makes some insulin, but not enough. This can lead to high blood glucose levels.

He is now sensor-ed up for continuous glucose monitoring to assess what’s going on; it would certainly explain his weight loss and lethargy. He is also having more thorough blood analysis to try and understand some unusual high fever, achy episodes that he keeps having, which are more likely indicative of infection. The unknowns are always what worries me the most. Isaac? He just takes it in his stride. His growing fortitude, stoicism, understanding and knowledge astounds me at times. 

As you may have gathered from previous posts, he was involved in a clinical trial earlier this year. This has now ended, after six months of follow up. For us, this was the very first opportunity to trial something that targets the underlying cause of his disease, and not just his symptoms. 

CF is rare, and the 10% of that population for whom current CFTR modulator treatment will not work, are rarer still. 

Nothing takes away my eternal happiness, relief and joy for those who are able to benefit from (and can access) modulators, which have significantly changed the outlook for the majority of sufferers (maddeningly, they are still not available globally, as they surely should be). 

The majority of people that make up that 10% still waiting, like Isaac, have stop/nonsense mutations of the gene, which means his DNA tells him not to produce the CTFR protein at all, so require a different kind of fix. Others in the group may have rarer mutations still, and those that cannot tolerate the drugs side effects, which are plentiful. 

This group, the last 10%, represents just 5,000 people globally. Trials are often based in the more affluent, scientifically advanced global locations, cutting the available population who could be involved in trials further still. Then you cut out children (too young to test such new drugs on), the very sick (unable to tolerate or benefit from the drug), women of child bearing age (unknown risks to mother and child), and those who simply cannot or do not want to risk being a participant in trials, or endure the process - what you are left with is a very small eligible group. All the while, the trials need numbers to prove efficacy and safety. Whereas a few years ago, trials seemed in the distant future, now we face the very real possibility that some may be planned, but not able to go ahead due to lack of patients. 

I can’t say the decision to join trials was easy for Isaac, but it certainly wasn’t hard given the impact of his declining health on his quality of life. The treatment phase, although incredibly intensive, was only a month. He was paid for his time, I was there with him throughout to support, and the research team we worked with were fantastic (I wish I could tell you more about this team!). Most of all, it was a chance to try a treatment that could, potentially, make a huge difference, taking him off this seemingly endless loop of infection, inflammation, worsening symptoms, IV’s (and repeat). Our team also talked endlessly about our contribution to science and the CF community, fuzzy warm feelings not unfelt. 

I can say nothing of the specifics. This science is shiny brand new, Isaac was a very significant patient within the trials, and the pharma wants to keep information close until they can publish results. We don't even have access to his data ourselves, but have our own opinions on efficacy. This week we found out that the next phases of the trial are currently on hold, and our hope that we could very soon resume treatment by joining the next phases of the trial, currently not an option. 

This frustratingly leaves us in a similar place to where we were last year. We can either pursue other gene editing trials, or gene replacement. To say that these decisions are huge to us is an understatement. We are yet to gain confirmation on one critical question; 

How long before being on one gene therapy trial, could he join another? 

The closest we have come to an answer on this, as the science is so new, and the protocols still being written, is that it may be one year between gene editing trials (there are more in the pipeline, and we could feasibly, join one each year if we were able and needed to). However, gene replacement could be up to 15 years. 

Sorry if this seems purposely vague, I cannot divulge details, and can only tell you what I understand, but the gist is…. this is a #majorheadfuck. I sometimes feel like I can't stop anything, if I do, I'll not be able to get back up. 

Love, love, love x (I have posted gene therapy FAQ’s at the beginning of the year, look back if you have any questions, or do get in touch) x 

Doodles from my trials notebook (#visual based learner)

Spinning

Our position is summed up nicely in this (albeit US) blog, with the available population clearly lower in the UK. 

This is difficult, exciting, terrifying, hopeful and a whole washing machine load of spinning emotions, both at once, but also, so slow; excruciatingly slow. Right now, his chest sounds worse, rumbling and deep, despite extra antibiotics and his whole plethora of usual meds. His weight is also down, a sure sign of something not quite right. Tomorrow might be better, or not. We see his team shortly.

This endless cycle of infection, inflammation and IVs highlights that time is absolutely of the essence, and research, results, publications, data analysis, funding… far too slow. From a patient/family perspective, we live on an edge, never hopeless, but never calm. 

Dogs and nature - our therapy. Obie and Remycoe ❤️

Long slow dance with hope

This is may be scrappy and a bit nonsensical, or at least, disjointed, apologies. It’s been a while. Things have been busy, but for mostly good reasons. I wrote this first part in April…

Isaac’s good stretch after our intense time in hospital in January/February lasted well, but he is back on IV antibiotics now. All going well, although lots of nausea. Anti-sickness drugs (Ondansetron) help, but sometimes it’s simply the physicality of coughing so hard and the accidental consumption of mucous overnight. 

He never, ever complains. 

This time he is on IV drugs that mess a little less with his kidney/liver function - a much needed organ break. We are hopeful that a two week course, following a week of extra oral abx, will be enough to knock the pseudo party on the head for now. 

His health has been up and down these last weeks, but when well, he’s been able to work on the house extension we are building - an addition to our garden/office (previously a garage, renovated into a kids games room a few years ago). This extension will give Isaac his own space and a little more independence while his health holds him back from full time work and the reasonable possibility of leaving home. This limited life won’t be forever, but for now, this is a positive way of making the most of what we do have (If I had my own way? My kids would stay home with me forever). This extension is only possible because building is Dan’s trade, Isaac’s own savings, and wonderful friends that help. Bonus is that Isaac is learning on the job. 

I have been recovering from a small injury (broken wrist and a wound to the same arm that needed operating on). Once the pain was managed, it was fine, but weeks later, it’s just a little frustrating. I have never been one to rest and relax for long, and maybe I’m not quite ready to accept that you bounce less at my age when galloping horses around the fen and falling off. Partly as a result of this, but also many other reasons, we had to say goodbye to our Lottie. She has now returned to her old owners who will bring her on and continue to grow the confidence that I hope she has gained with us. I bawled my eyes out for days, but we know this is the right decision. As lovely as she was, she was too inexperienced for a child Rosa’s age. Our focus now will be on helping bring on some very special Icelandic horses that our good friend is kind enough to share with us. 

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! July 13th at the Portland Arms. 

July update: Having just enjoyed a family round of COVID once again, Isaac and I are both still feeling beaten and bruised. Post viral symptoms are lingering longer than my impatience can take. We got out for our daily dog walk yesterday, to the river, and talked awhile about how he must never just accept feeling shitty as his fate, or his new norm. His reluctance to tell his CF team when he’s going downhill is understandable - inevitably it ends up with another course of IVs - and summer is the worst time for this (no swimming, limited showering, massive sun sensitivity…), but avoiding clinical review is clearly risky. There are different options, there are new things we can try, and ultimately, treatment decisions are his. I urged him to make those informed decisions, rather than denial ones as extra treatment is a pain. 

I love his optimistic outlook (‘I’ll be fine Mum’…) but as we play this long slow dance with the hope (of better treatments round the corner), now more than ever we need to battle the bugs and keep his lungs well. 

We will be lifted from certain non-disclosure agreements soon and be able to tell you more about clinical trials and next steps. Thanks for still reading. Love, love, love x 

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 ❤️

Yesterday

Overwhelmed understates this feeling. Every year I feel like this, and it never gets any less emotional. 

Back in 2006, I returned to work after maternity leave. Following Isaac’s diagnosis and subsequent ill health and long periods in hospital, I was probably more fragile than I actually realised. I work in publishing, a job I adore, and I soon felt cushioned by my incredible colleagues. That December, trying to figure out how to fairly share out the gifts we had from suppliers (these were the days before compliance rules), the idea of a charity raffle was born, and the CF Trust was chosen as our cause. Once started, it became a small tradition, a few dozen people congregated in our little work kitchen, ate cake, and the draw was held. Even then, the kind words and support left me choked up (it took me many years before I was fully able to talk about CF and its impact on our family). 

The tradition, once started, grew. Colleagues started not only buying tickets, but also donating prizes themselves too. The draw marked the start of our festive period, and as we grew as a business, more and more people came. In 2020, floored by the pandemic and the relentless impact of CF on Isaac’s health, I assumed we would break and reconvene the next year. 

Enter Heather! Not accepting defeat, and recognising that at this difficult time, coming together for a good cause was more important than ever, Heather took over the organising and we took the event online and further, global for the first time, meaning our overseas colleagues could also join. Thanks to Heather, her team, Richard (our poetic host), the many colleagues that offer entertainment at the event (Charlotte, most notably) and Paul, we reached a new level, with colleagues dialling in from the US, Spain, Mexico, India and more. Since then, we have continued; this has become more than a custom, it’s a part of who we are as a group. More than 150 people attend or call in. Yesterday we raised a whopping £3,000. 

To say this means a lot to our family is an understatement. Any regular readers of this blog will recognise how much Isaac’s life has shrunk lately, due to ill health. The last few months have been difficult. Life revolves around home, treatments, hospital, and training his puppy. He is no longer able to work or be in education. Without fundraising for critical research, and raising much needed awareness of CF, not only would we be no closer to a cure, but I would personally feel significantly more powerless. 

My family, friends and colleagues have collectively raised over £98,000 for the CF Trust since Isaac was diagnosed. I have played only a part in this, and that part has only been made possible by all the support I receive from friends and family. 

We have huge hope, and we have never been closer to a chance for a different quality of life for Isaac (in his case, this will likely be through groundbreaking advances in gene therapy), and the work that the CF trust do and fund is fundamental to these advances. 

To everyone who has ever trekked with me, shaved my hair off, jumped out of a plane with me, baked cakes, ran marathons, jumped, gifted, organised, donated…. I will never be able to thank you enough. Every single part contributes to a whole lot. 

If you would like to support our fundraising you can do so here.

I will do an FAQ on gene therapy soon. In the meantime, love plentifully x 

#GSP❤️

Fifteen beautiful years

Our Anouk is 15. The most wonderful, kind, generous, smart and caring girl. We could not be prouder or feel luckier to have her in our lives. 

Dream big my beautiful, the world needs more souls like yours. 

We are still emerging from viral hell (COVID and who knows what, I can no longer tell who had what first, or who has had which bug, which is a worry). I felt so sick one day my actual hair follicles hurt and water tasted like poop. Three lots of IV antibiotics in a near row, exhausted, we are desperate for a break for Isaac and his poor liver. Even more, he so deserves a good Christmas, and we need him well for potential clinical trials. Please keep everything crossed for us that he stays well for a while, that’s all I want for Christmas. 

Have a great day x

Cystic Fibrosis is a life limiting, genetic condition, affecting some 10,000 people in the UK alone. CF sufferers often, as a last resort, need to trade in their damaged CF lungs for the lungs of a generous stranger. To sign up to support organ transplantation, please visit https://www.organdonation.nhs.uk/ and tell your loved ones of your wishes, as even when signed up, the decision becomes theirs after your death. Thank you. 

A life less ordinary

Recovery was going so well. Bloody viruses. We are back to surround sound coughing (Anouk and Isaac right now), and in response, the live-in bacteria camping in his lungs are throwing a mean and nasty party. 

His lung function is down significantly, his oxygen sats low, his infection markers, high. Five days of fevers have at least broken now, which indicates he is over the virus but is left with the pseudomonas party to fight. He was to be admitted, upon his consultants advice, but he refused. A few years ago, hearing this news from others I would have been insistent (there is no choice! If the doctors recommend it, this is a must!) but eighteen years of experience, knowing his own body, and his own response to infection, we have to respect his choice. Of course, this means extreme vigilance at home (checking his O2 sats often) and IV antibiotics (just two weeks after the last course, which even for us, is a record I think). If anything changes, we rush him in. And to be fair, he has been stepping up well and doing his own IV’s. 

As a parent, I can’t tell you how emotionally challenging this is. It being his choice only. But as a mum of a smart, risk informed and lovely kid; of course we want him home, we understand, and we have to respect his decision. For the first time ever, he told me that being on the ward depressed him. That hit hard. Frustrated? Yes, of course, always, but depressed? That has never been part of his lexicon. Listening to him coughing right now, I’m in tears. His poor lungs. His poor throat. His poor head. His poor muscles. His poor back. His poor tummy, which often rejects meals due to excessive coughing. It’s all just so shitty. But he’s right, the only thing he would have on the ward is access to immediate medical care and O2. Being at home he is happier, more rested, and free to make his own choices, even when limited to just the house.  

We do have huge amounts of hope, but right now, his reality is just crappy. I can’t say anything about clinical trials at all now (NDA) but we do have near hope. For now, I’ll cling on to that, and Isaac’s amazing ability to see the best in every situation. I think I lost that somewhere down the line x x x

Puppy therapy 

Recovery

Relieved to report that the surgery went ahead. One week later, he is headache free, can smell (hurrah) and breathe through his nose once again. I was told the op would be about an hour. Four hours of frantically pacing the familiar corridors, we were finally reunited on the ward. This is the first time that I’ve not been with him in recovery, as he is 18 now, that will only happen in an emergency. Directed to the ward bay, I found it empty and with a strangers belongings on the floor, I’m trying to suppress my mania by this point, and finally find him in the next room. Despite this being his sixth or seventh sinus surgery (we have lost count) we always forget just how bad the first hours are.

The good news is that he was retested with Fentanyl, and had no reaction, so hopefully that was a one off, and we can continue use when needed. He was first on the list (always a very good sign) and by evening he was eating, drinking and getting about just fine. Despite the pain in his whole face, head, and throat from intubation, it’s actually the dry mouth post anaesthesia that he hates the most. After the twelfth jug of water I had to stage an intervention about his drinking issues. 

We are now home and while he should still be on IV antibiotics, he is not. His liver is struggling with the toxicity of one of the two drugs he was on, and it was deemed safer to stop. The hope was to carry on with the course as post sinus surgery, stirring up all those infections, it would give him extra cover (his cough is actually much better). Despite a low level fever for most of the week, his lungs continue to do OK, so we’re happy. Free from all the extra treatments, feels very good - not sure it’s ever much fun to have an inch long needle in ones chest. 

I’ll share what little I can on the gene therapy clinical trials when I can (will be under NDA, so cannot share details on social media) but I can say is that news is patchy, but mostly promising, and we are very, very excited for the NY. 

This week brought news of the NICE decision on the groundbreaking new CFTR modulators drugs (or HEMT as they are often named as now ‘highly effective modulator therapies’ - note the highly effective there!) which work for the majority of CF patients (Isaac is in the 10% who need a different kind of fix). While NICE recognise these drugs as effective, they do not approve the licensing of them in the UK based on cost. I recognise that this is a process, and no child or adult on these drugs now will be denied them going forward, but this is brutal, especially for those under 6 who have not yet started on the drugs and may now not get the chance. Please, if you can, read more here and then register your disgust at the decision which could have knock on effects on research trials and future licensing of effective treatments for the whole CF community. 

Cystic Fibrosis is a life limiting, genetic condition, affecting some 10,000 people in the UK alone. CF sufferers often, as a last resort, need to trade in their damaged CF lungs for the lungs of a generous stranger. To sign up to support organ transplantation, please visit https://www.organdonation.nhs.uk/ and tell your loved ones of your wishes, as even when signed up, the decision becomes theirs after death. Thank you. 

Peace and love x 

Gerhard Richter ❤️

Home from hospital

We are home after a quick admission, but with plans to go back in this week for surgery and post-op care. Isaac is on much needed IV antibiotics once more, too soon after the last lot, but the surgery should offer a reprieve from this constant cycle of sinus to lung infection. 

This week has been full of tears, joy, hope, disappointment, frustration, bureaucracy, more tears and head banging. Working with two hospitals (one for his surgery, and the other for his CF care) is incredibly difficult for reasons we can’t always fathom. Isaac’s hatred of staying in (he misses home, autonomy, privacy, sleep, and most of all now - his puppy Remy) resulted in painful conversations about the need for him to prioritise his health. I’ve cried myself a river. The next few weeks will be a back and forth to the ward, but for now, he has convinced them that he is better off doing home IVs. Seeing his smile and an ecstatic Remy on his return - made this all feel right. 

While we were in, we had big news on the gene therapy clinical trials. We cannot share information on the trials on s-media, so I’ll be saying very little for now, other than that it’s looking very hopeful to start in the next months. I will share more when we can. The trials can not come soon enough for us, this constant cycle of lung infection and frequent IVs stinks of a decline that we cannot accept. 

Strange, surreal times. For now, Isaac is exhausted but happy, and we will rest and restore x 

Autumnal view of Isaac’s room from the car park 

Not so little now Remicoe ❤️ #germanshorthairedpointer 

Vivid reds and deep, deep greens

Sorry for the lack of updates, and thank you to those who have asked after our lovely boy. 

He has kicked bug butt with our super sonic IV arsenal once again, and is feeling much better. Only the damn sinuses trouble him more. He has no sense of smell at all again, and when I accidentally ask him for the third time in a day ‘is that puppy fart?’  he now side-eyes me in frustration. His surgery (his sixth one on his sinuses, or seventh? We’ve honestly lost count) is being scheduled now. His surgeon, the amazing Dr Sharma, is aware of his upcoming clinical trials and the need to have him as well as possible by then. He can’t join a trial within 30 days of IV antibiotics, so timing is everything, and his CF team are planning another course of IVs for before and after surgery to keep the bugs at bay. So far, so good. No counting of chickens just yet; we’ve waited many months for sinus surgery in the past, with the cripplingness of headaches escalating day by day; but the noises sounds good, and we’re hoping for a date pretty soon, all going well (COVID, flu and Nora Virus can fuckedy fuck off please). 

The clinical trials, on the other hand, are delayed. This knocked me for six for a while, especially as we only know of the delay through friends in the community - the clinical team have told us NOTHING. I’d give up emailing if I wasn’t such a lioness for my children. Right now, it looks like Spring 24. I’m mindful of the fact that there are confidentiality challenges, and no one wants to communicate the wrong thing to families waiting for this life line, but still, it hurts to be ignored by your own caregivers. 

Throw into the mix an anxious child starting secondary school disastrously, busy full time work, the onset of winter illnesses (we are now fully flu and COVID vaxxed up, and urge you to do the same - if not for you, then to help protect the vulnerable in society around you), I’m exhausted. We all are. 

But sunny side up that I am, I’m loving autumn. The scents, the colours (lush greens and vivid reds), the suddenly furry ponies, long walks with cold feet and then snuggling up in front of the fire with a dog on your feet? My kinda heaven. Pup Remy is a joy, and Isaac is a doting owner - love like that can’t help but make you smile. 

Once again, I’m finding the news incredibly upsetting, difficult to watch and anxiety provoking. But I do. I think that’s important - to understand, to find your own impartial view of the truth, and then to support in whatever way you can. 

Love, love, love x

Non disclosure and fruitful hope

When I say life has been a rollercoaster of late, let me clarify; this roller coaster is the Alton Towers kind where you are tossed and turned until you feel your innards in your eye balls. 

On the dips, we are thrown into yet another CF exacerbation (Isaac started IV antibiotics again this week) and new pain management (he needs more sinus surgery, the headaches are debilitating). He has been struggling with fevers and fatigue, and hasn’t been able to work for weeks now. For myself, I’m constantly thinking about clinical trial options, and the fear of signing up to one trial and being prohibited from then joining another for months? Years? This makes an already massive decision feel even more overwhelming. To boot, little Rosa is struggling massively with starting secondary school. At times, I feel so torn inside it takes my breath. 

On the peaks, I remind myself that Isaac is starting to respond to the antibiotics. We have an ENT appointment pending which will hopefully get him on the surgery list. We also gain more clarity and reassurance on our clinical trial options all the time. I am no pushy mum, but I will be a lioness for what is best for my kids. I’m in regular contact with both our clinical trials team at our hospital, the amazing CF Trust, researchers, and other participating hospitals. 

The first trial that I described in my last post, the mRNA one, I have only limited information on, but will have more on very soon (days or weeks). The second, which I do have a lot of information on, I cannot share, as I reviewed their induction information so am under a non-disclosure agreement right now. I will share more when I can. Needless to say, this is, for us, emotive, overwhelming, exciting! It’s also fraught with anxiety - Will he pass the screening? Will he be well enough for the trials? Will we get on the trial? What of the risks? Will he still want to take part, when he knows all the details? 

Ultimately this is, and should be, Isaac’s decision. 

We remind ourselves often that we are so bloody lucky to live in a time, and crucially, a country, where access to these groundbreaking trials is even possible. 

More soon. Have a great day x 

Puppy pain relief….

Lottie love. 

The blue eyed cousins ❤️ 

Joy and dizzying decisions

We are happy, confused, and a little lost. 

My head is like mashed jelly, so I won’t write too much, but essentially, after 18 years of waiting for clinical trials for drugs that actually treat the underlying cause of his disease, rather than just the symptoms, we now have more than one option. We cannot jump from trial to trial, and may be committed to one trial for many months, or even years. The decisions we face are huge. Or maybe not? Maybe we can’t access each of the trials anyway? 

I spend hours writing lists of pros and cons of each in my mind. Efficacy, duration, risks, location, long term treatment options… assuming he passes the screening for the trial in the first place. 

You can learn more about our gene therapy options here - including yours truly. 

Image. The closest I’ve got to a picture of Isaac and I in years. 

The two upcoming trials, which will be recruiting in the coming months, are both hugely promising, but also very different; 

Gene therapy – new copies of the healthy CFTR gene

Known as gene therapy, the aim of this method of genetic therapy is to add healthy copies of the CFTR gene into the cells that line the lungs. The cells’ protein-making machinery will read the instructions from the healthy copy of the CFTR gene and make a fully-functioning copy of the CFTR protein. The tricky bit is getting enough of the healthy copy of the gene to where it needs to be in the cell in a safe and effective way. 

mRNA therapy – extra protein-making templates

DNA is stored in a protected compartment within cells called the nucleus. In the production process for making proteins, a copy or ‘template’ of the DNA is made in the nucleus by a similar chemical called ‘mRNA’. mRNA is then transported out of the nucleus and used as a template for making the protein. When a gene is faulty, as in the case of the CFTR gene in cystic fibrosis, the protein-making-template mRNA will also be faulty. mRNA therapies work by adding undamaged protein-making templates for the CFTR protein into the cell. Like gene therapies, a tricky part of developing an mRNA therapy is working out how to add the healthy mRNA into the cell safely and effectively. 

There are just 5000 people, world wide, with the rare CF mutations that Isaac and the others in the last 10% have, which excludes them from taking current CFTR modulators (CF wonder drugs, for many). 

More soon, when my brain stops feeling like it’s working through the secretions of a snail.

We have hope, and as hard as these decisions feel, how lucky are we? To live in a part of the world where access to these trials, thanks to our NHS, are even possible x

Please don’t try to fix me — I’m not broken

This article rings so true to our experience of ill health and is a good read for anyone supporting someone through sickness. 

‘Please don’t make me comfort you about my uncomfortable circumstances. It shuts down my ability to share what it’s really like for me. I can’t be your support person given my own suffering’. 

One thing you’ll find us doing often is talking through Isaac’s coughing. This isn’t because we don’t hear or care (tiny sharp daggers through my heart) but because the attention for him is both unwanted and unhelpful. He knows when to ask for help x 

CF tech

As a kid, we had a tiny black and white TV, like most families. I recall my Dad watching the snooker on it, but seemingly knowing the colours of the balls, to my amazement. Later, I inherited this TV. I moved out with it at 17 to my first bed-sit (a room in a crumbling, mice filled house in Cambridge). By then, to watch it at all, you needed to turn the dial ten minutes before, for it to warm up before it worked. I loved that TV and had it for years, while everyone else started on flat screens, I was still square. 

Soon after, I got my first (very sexy fold out) mobile phone, and the World Wide Web and email became a thing. Since then, technology and change became synonymous to me. 

As an asthmatic kid, I remember riding my bike up the hill to the doctors in the next village while having a chest infection. In addition to antibiotics (that they dished out like smarties in those days) they sent me home with a big old nebuliser to help get my asthma under control. I was thankful it was downhill on the way home as the thing weighed a fricken tonne, balanced in my wicker bike basket. Nebulisers vaporise drugs into smaller particles more easily absorbed in the lungs than dry inhalers, making treatment more effective. I had to ride the thing back a few weeks later for the next patient that needed it. Re-use was the norm. 

Years later, I had a son with CF, and by 18 months old, despite daily oral antibiotics, a super nasty bug had moved into his lungs and set up camp. Since then, he has never rid the Pseudomonas nor the need for daily nebulisers to help keep it (somewhat) at bay. We came home with the same big nebuliser that I had known as a kid, but instead of asthma relieving meds, this delivered life-saving antibiotics. It came with elephant like trunking that we were to hang out the window so that vapours would be limited in the air that the rest of us would breathe in the house. Especially important when I was later pregnant with the girls. 

Image: Little Isaac with long line, reaching from his ankle to groin. 

Nebulising colomycin in those days meant 30 minutes or more of trying to keep Isaac sat down long enough to breathe in the drugs, Thomas the Tank Engine proved key to our success; full volume to help drown out the noise of the machine long enough for him to inhale enough medicine. Twice a day. Sometimes he cried. Sometimes he fell asleep. Sometimes we could make it a game. Sometimes we cried. Later, as more advances in treatment came along (drugs to thin his mucous, drugs to help draw water into his lungs) his daily nebulisers became two, three, four, five and then six times a day. This meant hours of mask time, with a super active kid who just wanted - quite rightly, to go out and play. 

Then came the e-Flow, a much quicker nebuliser, but still tied to the mains. But soon after that came the gold that was - the iNeb. Silent, portable, small. Not only breath activated, but breath activated in the sense that it releases the drug only at the moment when the airways are at their most open, making it super effective. Each dose could be done in a matter of minutes (depending on his concentration, which varied massively). No longer a mask, but a mouth piece, meaning he could stop and start as he wanted. 

The iNeb was a game changer. His/our quality of life changed beyond words. He could do treatments in the car. He could do them in bed. As long as we could sterilise the parts, he could do them camping or on the moon. All with a handheld device. The iNeb costs somewhere in the region of £3K. In the UK, we were fortunate enough for this to be gratis on the basis of our doctors prescribing a brand of colomycin from the pharma that created the iNeb - essentially the same drug, but more expensive on the basis that you get the device for free, and treatment would be more effective because of the delivery into his airways. 

This kind of technology needs to be made available worldwide for CF patients now. 

Image: Little Ise self portrait. 

In the pandemic, things advanced rapidly. Once reliant on going into hospital at least every 8 weeks (we average on 10 CF clinic visits per year, not counting admissions, ENT clinic, six-weekly port flushes and other tests) to test his lung function (the key measure of wellness in CF) - now we had a home LF testing kit which we could hook up to our iPhone and report in data directly to clinic as often as we liked. We also began virtual clinical reviews. When he is well, these are a blessing - it’s one less trip into the hospital, saves hours, and is just all round more enjoyable for him (clinic visits to see his whole multi disciplinary team typically last 4-6 hours). Virtual clinics also help limit his risk of acquiring other bugs in a hospital environment (that said, they are not always appropriate, and occasionally, we end up going in anyway; Describing the sound, frequency and depth of a rattling cough is not always easy, and not a replacement for a stethoscope or hands wrapped around his ribs). We also have new tech to measure his O2 saturation, his weight, and his exercise tolerance. 

As a little one, physio was typically chest percussion - tapping on the chest walls repeatedly, and asking him to huff and cough at intervals to try and clear the sticky mucous. Advanced technology means we now have small handheld devices that use magnets to create a fluttering force against his breath that help shake his lungs. In the UK, we do not typically use ‘the Vest’ often used in the US, as they say the clinical data shows no more positive effects over more manual forms we have here. 

Image: Little Anouk with her recycled CF meds monsters.

In terms of hardware, by far our biggest advance was having his portacath inserted when he was thirteen. Before this, a huge part of CF life (heartbreak and trauma) revolved around gaining venous access to deliver the much needed antibiotics directly into his bloodstream. I cannot even try to guess how many needles, cannulas, long lines and PICC lines he had inserted over the years before his portacath. The scars on his ankles, hands, wrists and arms are reminders. I can say with horrible certainty that the failed attempts to get a line in sadly outnumber the successes. His port is now six years old and still going strong (they typically last 5-10 years, after which he will need surgery for a new one, which will need to be on the other side of his chest). His venous access when he was in ICU forced the portacath decision forward, one he had put off before, but now we could not be more thankful. Although it needs regular access and flushing even when he is well, it has no doubt reduced his needle stabbings a hundred fold. 

One of the research trials I am aware of, that could potentially make a huge difference to the quality of life for people with CF is around tech enabled infection detection that we could use at home (for now, we send in sputum to the lab and wait for it to grow on a Petri dish, which delays treatment by at least 5-7 days for most bacteria, longer for others). A simple breath test that could signal infection and strain. How amazing is that? 

I’ve not even mentioned the advances in testing, CT, MRI, blood screens that we have no doubt benefited from in his 18 years. What might the increased use of data and AI mean for us? Huge change for sure, this is powerful stuff. And all these hopes, when you’re waiting for a cure? Mean a lot. 

Today has been a great day. All three kids in the garden tonight, playing some kind of football/basket ball mash up…. giggles galore…. the most beautiful music to my ears. For now, Isaac is stable. Going downhill for sure, but tentatively confident we can put off his next IVs until after his upcoming holiday in France with family friends. He is a hero among scientific heroism x 

My world in pictures

Sorry for the lack of posts. It’s not because nothing is happening, NGL (as the kids say), it’s all going on. Isaac is stable, but life is crazy mad around us. Big news on clinical trials to come, we hope. 

This post is dedicated to my three crazy gorgeous children and our ever growing animal family. 

Meet Remy, Isaac’s own pup (another GSP, brother for our Obie). More Lottie pony love. And art with my amazing Anouk, Yayoi Kusama infinity mirrors at the TateM ❤️