Of Isaac’s two weird arse (rare) mutations (one from each of us, unknowing that we were in the 1 in 25 people in the UK that carry the faulty gene) my gift was what is known as a stop or nonsense mutation (written out, this mutation ends with an X). This is effectively a stop sign in his coding to make the correct CFTR protein. If only we could throw a blanket over that stop sign, the protein might be formed correctly, fixing the underlying cause of his CF. These trials, and others, give us and others in the last 10% of sufferers for whom the new CFTR modulator drugs will not work for, much needed hope; read more here and here.
Isaac is keeping quite well right now. His lung function is stable (which is good, but I still dream of improvement, rather than stability). However, his recent ultrasound confirmed continued progress in his liver disease (despite treatment) and the CT scan showed bronchiectasis and mucous plugs in various areas of his lungs. In addition to this, his ENT appointment keeps being pushed back month on month (likely due to COVID) and his sinus issues are becoming much worse (yesterday his sinuses on one side were so fully blocked, his meds came out of his eyes).
I also learned that we need to go to a tribunal to appeal his PIP (personal independence payments, which replaced disability living allowance) decision. They sent me a 120 page dossier to read through, in which I’ll need to contest any points I don’t agree with. It makes me want to scream, weep, hit walls and stuff. The CF trust are kindly advising, but today, I just can’t face it.
On a happier note, I am still on annual leave, and have been enjoying a mix of sleep, kiddie huggle heaps, long dog walks, reading (I’m going to start adding book recommendations at the bottom of blogs, in case anyone is interested) and a mass house sort out. I’ve loved that.
Stay safe out there. We’ve had a handful of bugs in the house these last weeks, but so far, no COVID. Main problem now is access to the damn LFT’s x
Book recommendation: The hearts invisible furies, by John Boyne. I loved this so much. A little like Elena Ferrante (who I adore; look up the Neapolitan series, if you are not familiar) in that it takes place over a number of years and includes tragedy and injustice, but with the odd giggle too, and a narrator you come to love. I’ve gone on to read a few more of his works recently. He is author of ‘The boy in the striped pyjamas’ - but his repertoire is so much wider than just that.
Pics: Anouk and I at Christmas (she takes a much better selfie than I can ever do!). Showing my old man and sister about filters (♥️). And seven years of our gorgeous Obie (German Shorthaired Pointer love).
