There are many stories of people living well with CF for decades, but more about those who don’t, or do but whose quality of life is greatly impaired. There are examples of siblings with CF (who have the exact same genetic mutation) where one is super well, while the other is not. I remember reading about a family in the US who had seven children, when one of their children fell ill, presenting with suspicious symptoms, all siblings were tested and of the seven, five were diagnosed with CF. Of those five, two died very young, two in early adulthood, while another was still living well in his fifties. This perfectly illustrates how the disease affects sufferers in incredibly varied ways, and how his genetic mutation alone is not indicative of his prognosis. Part of this might be due to other genes we all have and how they interact with the CF gene; some might be exposure to infections; and some might be lifestyle and adherence or access to treatments.
The one thing we can say for sure is that Isaac’s live-in infections continue to attack his beautiful, once pink lungs, and because of this, we will see decline in his lung function over time.
90% of CF sufferers ultimately die from lung disease.
So here are some thoughts (in no particular order);
1) Ever the optimist; I’ll start with my favourite. A cure is found! This might be gene therapy, or a small molecule drug that will work for his Class 1 mutations. These drugs would halt the progression of his disease. It won’t win him back lung function that he has already lost, but if he had access to these now, he could lead a long and healthy life with only mild CF complications (...pancreas, liver, bone and digestive problems). While there are promising small molecule drugs newly licensed that will treat the underlying cause of CF for many people with CF (CF affects how salt and water move through our cells, and these drugs correct a fault in this) these will not work for Isaac who has two rare genes for which nothing is yet through successful trials. I have written before (here) about this, but since then, there is new hope in various trials. I spend an enormous amount of time reading about research and trials, but don’t often write about it here simply because progress is slow (think ten years from concept to market) and there are so many hurdles at which promising drugs can fall; I have learnt over the years to not get too excited.
It’s not going to happen this year, or the next. But one day - I am certain of this.
2) His current treatment options (in particular the oral, nebulised and IV antibiotics he takes, plus the mucous thinning drugs and intensive physio to help him clear the mucous) continue to work for him and despite the progressive nature of the disease, we keep it at bay as much as we can. Our consultant once described his regime as a jigsaw puzzle - no single aspect of this will be a cure, rather these many jigsaw pieces will come together to help him as a whole. As we are seeing now, this would likely mean a slow decline in lung health over years.
3) New drugs are developed to add to our arsenal - and by this I mean symptom reducing treatments rather than those I include in part 1 which would treat the underlying cause of the disease. Most critically, this could be new antibiotics as his chronic infections can and will become resistant to current options at some point.
4) Other CF related problems raise their ugly head; CF related diabetes, liver disease, osteoporosis, gastrointestinal problems, even some cancers - and alter the course of his disease. And more oftenly ignored and maybe even more significant; mental ill health. CF is no easy ride.
5) His disease progresses so much that lung transplantation becomes an option - maybe our only option. This would only be considered when his lung function is about a third of what it should be on a regular basis. He has been at this level before, but only during an acute exacerbation - thankfully post exacerbation it has always recovered enough and it’s not on our radar right now.
5a) He is accessed for and is turned down for transplantation due to complications (this happens for a number of reasons, certain infections are one). Or he makes the choice himself that transplantation is not an option he wants to pursue (it happens; it’s a huge and very risky operation).
Go back to 1, 2 and 3 before you pass go. Do not collect £200.
5b) He is assessed for, and listed for a lung transplant. But due to the shortage of organ donors, he is one of the 1 in 3 people who die waiting. Please sign up here if you haven’t already - and remember to tell your next of kin as regardless of your choice in life, it becomes their choice after it.
5c) He is assessed for, and listed for a lung transplant. A selfless person dies, donates their precious lungs, and he is transplanted. He will no longer have CF in his lungs, but he will still have CF in his sinuses, liver, pancreas and other organs. He swaps one set of treatments for another, and begins a life of anti-rejection drugs and the side effects of having these is a comprimised immune system. A successful lung transplant will be absolutely life changing; it could mean many years of breathing freely. But it comes with considerable risks too, and average life expectancy after transplant is somewhere in the region of five to ten years, so something we hope to put off for many years to come.
6) My most feared; a sudden decline from a serious exacerbation (see blogs from Oct17) which might result in emergency listing for transplantation, or worse. Not one I let myself think about, or really believe will happen again.
7) All of the above, and maybe more.
8) This is all a dream! CF is all make believe. Like in Dallas, when Bobby dreamt that Pam had died and married Jenna? I like this option too.
Clinic today was mixed, as always. His lung function remains low - just less than his last test at the end of his recent IVs, but higher than I expected, as he’s been seriously coughing today. His infection markers are high for a fungus he has previously grown in his lungs (Aspergillus) - and while the markers are much lower than they have been previously, they are rising significantly. Not good. But given that his last IVs did not increase his lung function as expected, and having had recent steroids which would normally give him an uplift too but haven’t, it’s actually reassuring to have another treatment option to try right now. Maybe these anti-fungals will be the thing to pull him out of this blip. So despite this, and him being markedly more symptomatic (so much so, the coughing around the supermarket on our way home got us some pretty serious stares) we’re actually feeling hopeful. Maybe we’re also relieved not to be facing IVs again so soon, but whatever, we’ll take it.
Thank you for reading. I’m forever unsure how this blog really resonates with everyone - I very much want it to be real, honest, informative and not at all depressing and sympathy-seeking sounding. I don’t plan blogs, I write very much from the heart and I hope it comes across in the way that I imagine when I write. Please, please remember, that our lives are full to the brim with OTHER LIFE STUFF; dancing round the kitchen table with the music much too loud, love and huggles, roll-around tickle fights and fulfilling work lives... this blog focuses in on CF, on Isaac, and it is undoubtedly a struggle at times, but we sing, we laugh, we prat around as much as anyone. Sending big love to all, especially to those carers and families juggling-with and affected-by chronic illness of any kind x
