Tuesday, 13 November 2012

Kalydeco: The Discovery

“So do all men who live to see such times. All we have to do is decide what to do with the time that is given to us.” 
J.R.R. Tolkien, The Lord of the Rings ~

A constant question I get asked by people,"how did you find out about Kalydeco?".
One evening I was watching a documentary from the UK spotlighting different diseases and the genetic links. Alcholisim, MS and a young women with CF appeared on it looking into the new drugs in the pipeline. That's the first time I'd heard of gene therapy. I got interested then googled new treatments from CF...KALYDECO!! I had no idea it was even being developed, since the mid '90s. I read further and saw it was only for a certain gene mutation, only 4% of the CF population. I didn't know mine. 'What are the chances?' I thought. Never the less, I always face things head on so I requested my CF gene's be identified. In the end they could only identify one (I'm to see a genetic counsellor soon to find out the second). Two weeks of  w a i t i n g... what if? who knows? What will I do?.. then on the Friday night my doctor called, very happy and excited for me and my family; I was G551D. The words floated in my mind, it was just one of those stunning moments in life, like after birth! Surreal. Then all I could think, 'why me, not Katie?'. She passed away a week or so later.
So it was the best of times and the worst of times, but over time it has sunk in and I realise what a gift from God this has been in our lives.
The big lesson I learnt is that you have to be proactive in your health care. Always look, seek, search. High and low. You never know whats on the horizon. I should have been more so in retrospect. Just 18 months before I knew about K, I was considering the transplant list. I made the decision to make that call the next day to go on the list, when we had a total surprise package; I was expecting baby Sebastian... I hyperventilated, I thought we were going to die. About a year before I had an accident and seriously fractured a rib when my health went downhill, I had been resisting the transplant for over a year. Initially it was a very scary time, but I underestimated my capabilities through fear. I was fine, full term baby natural birth, no oxygen or wheelchairs (in any of the pregnancies), shopping, taking care of my other boys right till the end. First breech birth to boot! Everything went perfectly well and I realised I'm stronger than previously thought. A lot of mental trauma made me spin, the transplant talk made me see stars and the consult room appeared to jump. I was terrified and it played on my mind constantly. Nothing can prepare you for it, but I think after the experience I could cope with facing it better now. I hope Kalydeco puts it off for a while yet though!

Always keep your eyes wide open and ears pricked, you never know where life will lead you! God knows, it always work out for the best. xo


  1. I love your words..if I had not kept my eyes wide open and ears pricked...fought as hard as I did the last two months, I would not now be officially on the transplant list - as of yesterday! I wish I had the Kalydeco option, would be so much easier than getting my chest ripped asunder...but at least I now have one option. I am so glad you have Kalydeco - what is meant to be - will be ;) Leanne

    1. What a triumph for you Lee Lee! It's you & all the other brave people who face transplants that are truly inspirational. At a moments notice you may have your miracle.. Amazing! I'll be watching your progress bonesandall.com.au cheering you on with all my heart from Melbourne! Xox