Tuesday, May 01, 2012

Cystic Fibrosis Week


This is national CF week so you may see more in the media this week and the CF Trust have a web page with information and stories here.  They have a good video talking to some people with CF (with the lovely Kerry, who is an ambassador and poster girl for LLTGL!)

I have previously written a post about CF so will shamelessly reuse this - read here - the only change is a good one because the statistic for life expectancy is now 50% of people living beyond 41.   Sadly that does still mean that 50% are still dying in their teens and as young adults, but the treatments are ever progressing.

Gene therapy is something that always seemed to be just around the corner - when I was born we were told it was 5-10 years away.  That was 33 years ago.  However there have been many advances in this area since the CF gene was identified in 1989.    The basic premise is to replace the faulty gene in the lungs with a working copy.   The studies so far have looked at inhaling treatments which carry the correct gene but it has proved difficult to find the safest more effective way of transporting this into the lungs.  Studies so far have focuses on identifying this and ensuring there are no serious side effects when patients are given a single dose.  The current study is for more than 100 people with CF, some taking the active gene therapy product, some taking a placebo, once a month for a year. The results will then be analysed to see if patients show improvements in their lung function. If the trial is successful the aim is to then find a pharmaceutical company to take the product into a phase 3 clinical trial from 2015 onwards.  If effective, this could help limit any damage to the lungs caused by the gene defect and increase life expectancy to near normal, although other aspects of CF would still remain.

Alongside this, many new treatments are in the pipeline.  Various studies looking at ways of making the faulty CF gene work more effectively and another focus is on medications that might treat the basic defects e.g in CF this is related to salt and water movement across cells.   In the past the focus has been on treating infection, then a move to more preventative measures  - the focus now is on trying to correct some of the cellular changes that cause the sticky mucus in the first place.  These treatments could make vast differences to those born with CF today and help to prevent progression in those already living with this condition.

Sometimes I wonder how on earth I fitted in all those treatments before my transplant, but I guess you just do.  You just learn to cope as best you can and get on with it!  I don't think people realise that CF is a multi organ disease, as the focus does tend to be on the lungs primarily.  Despite my fantastic lungs now I still suffer from the other effects - diabetes and the need to take insulin and digestive enzymes with everything I eat, because my pancreas is damaged,  the CF arthritis where joints become acutely painful and stiff, the chronic sinusitis/pain because the CF mucosa still lines my sinuses, the osteoporosis because CF causes malabsorption of the necessary vitamins for bone strength,  the horrendous stomach cramps when I don't get my enzymes quite right and just the tiredness of your body working hard to overcome all these difficulties. 

I do however count myself so so lucky - I have many friends still fighting ALL these issues and at the same time struggling to take a breath.   They still face the prospect of transplant and the fear that it might not be an option.   I can cope with all the add-on's of CF because I can breath and laugh and live.  I know how hard it can be thought because I have been there.. so for those not so lucky please remember how devastating this illness is and spread the word, raise awareness and ensure that CF becomes a treatable illness, not a life threatening one.

3 comments:

Anonymous said...

You've said it all.You are a shining example of living life to the full and we are so proud of you. Love Mum x

Anne John and Ross said...

Hi, Yes your mum has summed it up, you are an amazing young lady and we are in awe of all that you do and how you live your life in spite of all the things you still have to cope with. We sometimes forget that because you never complain and you never let any of these things stop you living life to the full. We couldn't be more proud of too so keep on keeping on! Lol Anne John and Ross xx

Kelly said...

"I can cope with all the add-on's of CF because I can breath and laugh and live."

Beautiful words :-) xxx