Building independence

We started this project in January this year, with proper ground work starting in April (mudfest). A separate space for Isaac (and pup Remy) to inhabit. It’s been a slog, a learning opportunity for Isaac, and a reminder of how fantastically supportive friends and family can be. This week he moved in. It’s five yards from the house, but still, our upstairs feels echo empty without him - soppy fool that I am. I am so proud of the work that Isaac was able to put into this, when well, and always, for my talented husband for making it all possible (entirely after work and at weekends, however exhausted he might be). 

More health updates soon. Clinic and port flush tomorrow. There is a lot going on. 

Love, love, love x x x 

Dreams and my loves

Dare to dream? watch here x 

Our girls, our boy. Feeling frickin lucky x

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 ❤️