People often say to me "oh, there are so many medical advances, I'm sure a cure is just round the corner" which is lovely, and I certainly hope they're right. I am a total CF geek, reading all sorts of medical journals and following clinical trials, so if there was any wiff of a cure on the horizon, I would know about it. And I'll tell you now why I don't think there will be 'a cure' for us.
The underlying cause of CF is the CFTR gene which normally creates a protein that moves salt and water out of a cell. If the CFTR gene is defective, it results in a build-up of thick, sticky mucus in the bodies passageways.
Up until very recently, treatments for CF were solely focused on the symptoms of the disease. In 1989, when they first identified the defective CF gene they hoped that a cure was just around the corner, but it didn't quite pan out like that. I guess knowing what the fault is, doesn't always mean you can fix it.
Anyway, new treatments are finally being developed which correct the CFTR defect, they can help move or correct the protein and create some normal movement of salt and water out of the cells. The hope is that these treatments will help kids whose lungs are not already damaged by disease, or hold off further damage and stabilise those whose are.
But these new treatments work only for a small minority of people with CF with a certain class of the disease (class 3). They are hoping to develop another drug which will target the class of CF that is most common (class 2) - these are in clinical trials right now.
Unfortunately these drugs will not work for Isaac, who has class 1 gene mutations (associated with more severe disease) because in his case the protein does not need help folding correctly, or getting to the right part of the cell, it's just never made properly in the first place. Bugger.
Have I lost you already? I told you I was a CF geek!
However, that's not to say we are not HUGELY positive about his future. There are some lesser known trials happening on drugs which may help his kind of nonsense mutations, and that's just the small molecule drugs; There is also hope in gene therapy, which is going on in the UK, and is truly groundbreaking - this kind of research is not happening anywhere else in the world.
Plus there is something else we have high hopes for. Since the 1940's median life expectancy has risen from a few months, to the mid thirties. This is largely down to the use of antibiotics, physiotherapy, pancreatic enzymes, and a whole lot of other medication that he takes every day already. I believe that the closest we will come to a 'cure' is a jigsaw of a whole lot of different pieces. Take DNase, which he nebulises daily, this is thought to save 5% lung function. Hypertonic saline, thought to do almost the same... So that's 10% already, and bit by bit, piece by piece, we hope that put together, the myriad of treatments on offer, or to come, this will be our 'cure' - albeit one where he has a lifetime of treatments and medications. It will be a long lifetime.
I hope that gene therapy, or Ataluren, comes along and makes all my dreams come true. Every birthday candle blown out, every Christmas cake stir, every penny in a fountain, wishes come true. But if I'm right, we'll be OK too. Bit by bit we will beat this disease. We just need major pharma's to invest in new antibiotic research - this is a subject that will not just affect the CF population, but us all, if we don't do more about it soon (read more here ). Imagine all those evil little bacteria laughing at us, the big people, at their power over us, to make us ill, to kill.... Forget the Middle East, there are wars going on in our bodies, and we need to help arm against them!
Update on our boy soon x
