Sunday, 10 August 2014

Life Facing Forward part 2

Written by Juliette

In part 1 of 'Life Facing Forward' I reflected on our last year. Now I want to tell you how we are looking into the future with hopeful anticipation. Sammy is doing extremely well in every respect and we are enjoying ourselves. We are careful to avoid harmful bacteria and germs when we can, we keep up Sammy's routine of medication and physio to keep him in the best possible health, and we are encouraging him to be active and sporty as this will really benefit him. 

I can picture Sammy into his teens and beyond but at the back of my mind is the knowledge that currently in the UK only half of people with CF live to see their 40th birthday. This is terrible but the Cystic Fibrosis (CF) Trust among others fund incredible research which can push that figure right up, in fact the Trust is working towards a goal that CF will no longer stand for Cystic Fibrosis but CURE FOUND!  

There are a few different research projects which will hopefully provide a cure for Sammy one day soon. We hope in the near future Sammy will be offered one of these treatments or even be given a choice of treatments. 

I was going to get all sciency here and tell you about a few of the drug trials currently happening but just reading about them I realise that's a big challenge for me but I will say this: CF is caused by a mutated gene. When the gene is normal it produces a protein which acts as a channel through which salt pass out of the cell. In the mutated gene it doesn't work properly. 

Currently all the medications and physio we use only treats the consequences of the faulty gene but the new medications being trialled at the moment actually work to help build the protein correctly! They either help to build the salt channel or help to open the 'gate' for the salt to pass out of the cell or do both. Amazing and exciting stuff! In addition to this there are gene therapy trials which look at ways of introducing normal CF[TR] genes into the body. 

The most exciting thing is that for a small number of people with a very rare CF[TR] gene mutation there is already a drug which they are using that corrects the problems of the faulty gene so it's hopefully only a matter of time before other things are on the market. 

We watch that space with hopeful hearts.

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