We did it!

This was a phrase much used on late Saturday night and Sunday in our cute little cottage near the Jurassic Coast. Sometimes in wonder, some in disbelief, many in pride. 40km is not the longest any of us have trekked while fundraising for the CF Trust (we did 67km in a day in the Surrey Hills once), but this was tough. Steep, beautiful, sometimes scrambling. Doing this kind of event as a group is bonding in ways I cannot explain. Sarah, Michele, Jo, I hope you know how much you all mean to me, always. 

We have raised over £3,800 with this trek, plus gift aid (link here if you would still like to donate). No matter the amount, we appreciate every sponsor (and spend a lot of time delightfully debating who the very generous anonymous donations may be from!). Thank you so, so much. 

Today Isaac completed his latest course of IV antibiotics. He’s feeling much better, and coughing so much less. The feeling he describes to me after having his port de-accessed following two weeks with a needle in his chest sounds wonderfully liberating - especially so in the heat of summer. The packing away of the IV supplies back into the cupboard, which dominate the kitchen while he’s doing them, feels cleansing and cathartic. Today was a breezy happy day, until I see the children of Gaza starving and I weep again. I am supporting the Red Cross in the small way that I can (https://donate.redcross.org.uk/appeal/gaza-crisis-appeal) and plan to join protests. This cannot go on x 

More drugs please

Lots has been happening lately. We are talking to our team about new clinical trial options. Hope is everything. 

Sorry - it’s tricky as we can’t yet say much; as gene therapy research is all still very new and commercially super valuable to the pharmaceutical industry we are not able to share what trials he has taken part in (two) or how he found them (mixed) until the data is published. We are tied into his last trial until autumn, but excitingly we have options other than gene therapy now too. One example is phage therapy. I LOVE phage. We should all love phage. 

In my very simple layman’s terms, phage is a virus whose sole purpose in life is to destroy the bacteria Pseudomonas. Isaac is colonised (meaning these bugs have taken up permanent camp in his lungs) with three bugs; two bacterial, one fungal. But the most prevalent in his lungs by far is the PseudoA. I still remember the call from the hospital to say he had first grown this. He was 18 months old and I sat, head in hands, on a mossy bench outside the office. This news changed our lives forever, resulting in daily nebulisers and frequent courses of IV antibiotics ever since. The idea is that by inhaling phage directly into his lungs, and if that can reach the parts of his inflamed and damaged lungs, we might be able to destroy the unwanted Pseudo camps, or at least, damage them. The stuff of my wildest dreams!

Isaac has asked to start IVs next week, as his symptoms are worsening. That he has matured so much in these last couple of years, and now plays an active role in his treatment is, I don’t know how to describe it really, just, brilliant, and relieves the pressure on me massively. 

In less than three weeks, my sister Jo, friend Sarah, cousin Michele and I will be trekking 40km of the Jurassic Coast. This will be a 9-10+ hour slog with difficult climbs, probably during a horrible heatwave. To help fund vital research that can lead to real life treatment options for people with CF, like those I describe above (especially for the 10% like Isaac who have no other options) please consider sponsoring us here. Every sponsor, small or large, is truly appreciated. Thank you thank you thank you! X

Anouk’s prom ❤️

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. 

Winning

Things are pretty groovy right now. 

Our amazing Anouk is calmly thriving during her GCSE exams  - this girl will go far, and always full of heart. My pride bubbleth over!   Our days off are often filled like this…. walking through meadows with Isaac, Obie, Remy and our Rosa Rocket on the lovely Skyfaxa…

“You can look at a picture for a week and never think of it again. You can also look at a picture for a second and think of it all your life.”

― Donna Tartt, The Goldfinch

Stability in health is something we never take for granted. Health and happiness coexist like the river is to the sea. That’s my way of saying, comparatively? Things are good right now.  While we enjoy this welcome reprieve from hospital, Isaac is back working part time, for the first time this year, which is fantastic. 

Meanwhile, our training is getting well underway for the next fundraiser. I have to admit, my bones feel so much older now than when my sister and I began with Ben Nevis (pictured below) when our boys were still so small and the diagnosis was still so raw (and we looked so much younger!) x 

Our 40km Jurassic Coast trek will take place on July 19th and you can sponsor us here. Every donation, small or large, is welcomed by warm fuzzy hearts by us all. Huge thank you to all that have donated so far. 

Set backs and training

It is always harder to write without good news. 

Even harder when you cannot divulge details of the clinical trials that we are part of due to non-disclosure agreements. I think all that I can say is that… it’s been emotional. A soon as I can write more, I will. 

For now, lung function is down and we will concentrate on getting him well. I can’t lie; without advances in research, we have no option but to treat only the symptoms of this disease, which is progressive, shitty and cruel. He’s currently being scheduled for yet more sinus surgery too (we have lost count now), another hurdle. 

And so, again, I throw myself into the fight once again; the only way I know to keep going and feel proactive. I’m doing a few things, but my favourite by far is the Jurassic coast trek with my core crew coming up in July. This will be a challenging trek, likely taking us 10+ hours, over a single day. Type2 fun we like to call it! If you can support, in any small way, it will be so much appreciated by us, and of course, the Trust and the whole CF community that they support so fantastically. 

Training pics below. Love you my ladies, more than you will ever know x x x

 Our Jurassic Coast trek will take place on July 19th for which you can sponsor us here. 

Health update and the Jurassic Coast

Exciting news! For us at least. We have planned our next fundraising trek which will take place on July 19th and you can read more about here. Please consider sponsoring Jo, Shelley, Sarah, Matt and I on this next challenge. I’ll post training updates along the way. 

Why this is so important to us? Why do we trek again and again, punishing our feet? Why so many of our dear friends organise gigs (thank you James), collect money in lieu of birthday gifts (big hugs Jimbo), help arrange our yearly raffle (Heather, Paul, Richard to name just a few), and all the other crazy things we have done along the way that have meant that we have now raised over £100k for the CF Trust…..

In blunt terms, twenty years on from Isaac’s diagnosis, we are still completely reliant on fighting only his escalating symptoms, not the root cause of his disease. 

Yes, we have some new antibiotics (not nearly enough, which you can read the dangers for all of us about here), we have new techniques and tech for drug delivery and physio to help try to clear his chest of mucous, one new mucous thinning drug for him to inhale, and a handful of new variations of existing meds that help keep him plodding on; but ultimately? Isaac takes only the same old treatments that were available to him as a child. 

Right now we are pursuing the best option open to us; gene therapy trials. I’ve written about this before, and added some FAQ’s here. We have the best team around us at Papworth hospital. We have an incredible consultant, who over this Easter bank holiday weekend, while not working or even being on-call, has called us three times to check how he is and give us test results. And we’ve been lucky enough to participate in truly groundbreaking ‘first in human trials’ (I cannot write more about this yet, as the information is commercially sensitive). 

However, even participating in trials can only give us limited, time-bound hope. The treatment period is short, after which he stops the drugs and goes back to only his usual routine. The data crunching and endless bureaucracy that brings a drug to patients takes years, and realistically, even if these turn out to be both safe, effective and affordable, they are probably years from being licensed. 

But we do this to further the research for all, which is incredibly important to us. And it comes with fringe benefits; we are seen by THE best doctor (as principal investigator in the trial) with 121 care and lots of extra tests and consultations (which so far have revealed other new treatments we can try in his day to day care), and possibly, if these drugs prove themselves, early access on compassionate grounds may be given if his data prove that they work for him,  if he was very unwell and licensing was closer. 

We feel like we’re taking the most proactive way forward, and Isaac has grown magnificently into his role as a patient. He advocates for himself, can now list to every medication he takes and why, is clear and can communicate his preferences (bloods from port today, or venepuncture buddy?) and is building up a much clearer story of his own medical history (allergy to Fentanyl? That was 2018. More sinus surgery? Yep, ok, despite the pain, it’s worth it longer term). We are a team in all of this, and enjoy our time together, no matter what. Quite possibly me more than him. 

Right now, his lung function is down, and we’re having ongoing issues with his liver. He’s had mild liver disease for years now (very common in CF), and it’s an unhelpful complication, despite being something we’d not know about were it not for all the tests. But, he is a few months from his last IVs (which give his liver a welcome break). We are back and forth to the hospital a lot, with another admission planned this week. He makes the most of the food in bed and internet. I sit in fear that complications might prohibit his participation in trials, and feel thankful for every day that means we can continue, and for the chance this might give him and many others in future. 

It feels like winning every time we get home and his dog bundles him with love and gross face licking. 

We desperately need funding to continue for the last 10% of CF patients, for whom, like Isaac, new CFTR modulators do not work. All sponsors, however small, are so much appreciated. More soon, love love love x

Image: Dog love when you feel like shit ❤️

Why lung function and symptoms don’t always match

Oh my bananas, I cannot tell you how many times we have got this so wrong. Coughing until he is sick, and then LF is stable? Feeling really quite good, and LF is terrible? 

These days, we always try and guess ahead of testing in clinic (we also have home spirometry, but testing too often can be soul crushing and anxiety fodder). Often we can predict within a 5% window. But not always, and truly, I’m not sure what way round is worse… Shitty LF when he seems quite well is always worrying (and usually a prompt to start IV’s which he may argue against). But good LF when he’s feeling so crappy? The course of action feels less clear. Right now we seem to seesaw between on and the other. Confusing. Thankfully we have an incredible team who we have now built a relationship with (over three years in adult care) and who listen to Isaac and take a more holistic approach, and we always find a treatment path that we all agree on. 

Sorry, writing is weird at the moment. We still can’t talk about the last gene therapy clinical trial that Isaac was a part of (until the pharma publishes the data) and we now can’t talk about the next one. But we can say that thangs are happening, and we hope they happen soon. Annoyingly his diseased sinuses are causing headaches and nausea once more. When we last saw his (lovely) ENT surgeon, he said that Isaac can pretty much choose when to schedule his next surgery (schedule that is, waiting lists dependent!), and we need to do this, but can’t during trial participation, which is difficult. 

Otherwise, things in Molyworld are grand. The bulbs are sprouting. Anouk is acing her GCSE exam revision, and Rosa and I are loving our pony time. Love x 

Obie, Remy and Skyfaxa, our dæmon companions ❤️

Forgotten posts

I realise that writing might be deeply unfashionable these days, I should be offering bite sized chunks of content plastered all over social media. But I’ll always love words, lyrics, idioms, editing down the random ramblings from my mind, books, getting lost in the landscapes that stories build in my mind. As much as I’m told to get on social media more, or worse, vlog (ha!), I think I’m sticking around here, in my geeky comfort zone. I don’t really do any social media now (can’t be arsed with the ads!). Although I’m mostly too busy or tired, I still occasionally get the urge, maybe need even, to write here. Often to offload. Sometimes to inform friends and family so we don’t have the repeat health updates again and again. Maybe because it builds up a timeline of events that I can look back on. But mostly in the hope of raising awareness of Cystic Fibrosis, a largely invisible disease that is so often mistaken or misunderstood. A GP that I had an appointment with asked me recently ‘when did he get it?’. Christ. 

So while I’ll stick to words, you can watch this vlog which captures what life with CF can look like better than I could ever describe. Words are not always enough. Please do take a look here. 

Isaac is currently, um, stable? I guess? Hard to say when things change daily. He’s had recent IV’s, a plethora of lovely viruses (he is currently on anti virals, a fourth daily abx and steroids) and the random fevers and joint pain persist. Our participation in gene therapy trials, which we so desperately want, is delayed for as long as he is on extra treatments for an exacerbation (he needs to be at least four weeks clear of meds that are additional to his usual regime). It’s frustrating to say the least. Too many delays, and he could miss out altogether. 

But things could be so much worse. A good health day is walking the dogs together and him doing the cooking. A bad day is only ever the one before a whole new one. 

I often start writing, and then forget to ever post them, so do look back on previous entries if you’d like to. Hard to believe that this little old blog has had almost 100K views. Crazy. Love love love x

Pictures: Christmas at home.

War on bugs

This week Isaac wisely decided that he needed IV antibiotics, and that he wanted them now to be well for Christmas. We had a call with his consultant, who praised his maturity of mind, agreed a treatment plan (Ceftaz and Meropenum with a side order of steroids). Yesterday, Dan and Isaac headed into clinic. Had his port accessed. Did the first dose while chatting to the team. Picked up the drugs, bins and the masses of required paraphernalia to complete the course at home, and headed back. 

It reminded me of a video I once watched where another CF patient was in a similar position; lungs protesting, extra physio and usual meds not nearly cutting the mustard. For many CF patients, IV antibiotics are inevitable when lungs scream. At some point you must concede defeat and just get on with the war on bugs. Certainly in Isaac’s case, however much of a pain and chore IVs are, they are a fait accompli, and a tool we rely on and are grateful to have in our arsenal. 

So, a familiar story that we can empathise with. Only after watching this video, I accidentally wondered into the darkest depths; the dreaded comments section (mistake, troll city) where the patient was criticised for her ‘privileged conceit’ expecting her ‘doctors to be on speed dial’ and seemingly ‘choosing her own treatment plan’. 

Whilst I rolled my eyes (as I often do at the fucking audacity of people who moan through the anonymity of their icky keyboards) and took breath, it reminded me of why CF awareness is so important. Because, as absurd as this obviously sounds to some people; this is our reality. 

People with CF know their bodies better than anyone. They know when their lungs will respond to nothing less than the big guns (IVs). There is no way, on any planet, that anyone with CF would ever, ever, ever, choose to do more treatment than what was absolutely needed - no one thinks, ohh, what a great idea, let me pop a needle in my chest and inject toxic shit that makes me feel crap into my blood stream multiple times a day! 

Moreover, CF teams know their patients. They know the bugs that are growing in their lungs. They know what drugs those bugs are sensitive to, or not. They know their patients medical history. Critically, they know that CF lung exacerbations escalate. Bugs don’t just give up, so nor can we. Proactive is the name of the game we must play. A game we never chose. 

The relationship between CF patient and clinical team is probably a fairly unique one. CF is a chronic, lifelong condition. In paediatrics we had the same two consultants for the whole 16 years we were there. Now, we are building new relationships in adult care, and I can confidently say that we spend way more time with our CF team than we do most of our even closest family. 

So yes, as crazy as it might sound, we can make a call, make a plan over the phone, and take action. This might sound like a privilege, but that is because this is needed. CF requires aggressive, timely treatment. Without that, infections take hold, worsen, and lead it irreversible inflammation and scarring of the lungs. 

We don’t have the same for other co-conditions (we wait for many months for much needed sinus surgery, on an almost annual basis), but lung infections? This is like our BAU, our bread and butter, we know this, we get it, we arm ourselves quickly and appropriately before the little feckers cause any more long term damage - and ultimately, this keeps us out of hospital as much as we can, saving essential NHS resources by caring at home as much as we can. 

The relationship that we have with our CF team is one that we are so, so grateful for x 

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)