Tuesday 9 June 2015

The Power of Knowing Your Genotype - CF Week 2015

Personalised medications like Kalydeco (ivacaftor), which work with specific genotypes, are transforming the lives of people with cystic fibrosis. Knowing your genotype has therefore become crucial in allowing those with CF to access the right drugs for them.

But many people still don't know theirs, or if they do, what treatments could become available to them. That was the case for Jessica Didlick, who through our Genotype Matters campaign learnt that she's eligible for Kalydeco. Here's her story of how knowledge became power.

I found out that I could benefit from Kalydeco with my genotype, if it becomes available on the NHS (it isn’t available for people like me yet, despite evidence showing it could transform my life), when the Cystic Fibrosis Trust posted on Facebook about the Genotype Matters campaign. I asked my hospital about it but they didn’t know anything about my genotype and the fact that Kalydeco could become available for my mutation. We still don’t know if or when it will become available, I feel like I’ve been left in the dark, when I know how much it will help my health and my lifestyle.

My life with cystic fibrosis at the moment is borderline but when I get bad chest infections I'm worse than ever and feel my life can't get any better. I can't even run after my nephews and nieces without being out of breath afterwards and having an attack. I'm trying my best to live life to the fullest and get my health to the best it can be; I want to become a mother, even with a challenging illness holding me back. IVF is my only option right now. My lung function is only 59% at its highest, and that’s without infection.

Kalydeco would change my life. I would be free to do a lot more physical activity without being so out-of-breath and I’ve heard stories about female patients with CF getting pregnant naturally. Kalydeco has reversed the thick mucus and the resulting drop in lung function. Realising my dream of becoming a mother becomes more and more difficult as my health deteriorates. It will give me a few more extra years of living a life I’ve always wanted – I believe Kalydeco is my best chance to feel like I can live a normal life. 

I really wish the drug was available now to those who could benefit: we’re missing out on a wonderful drug that is restricted because of funding arrangements and bureaucracy. Our lives shouldn't be a price tag and shouldn’t be caught up in endless paperwork and committees: save us from a painful, daunting death. At the end of the day, none of us want to die young or in pain. 

It's important for people to know their genotype, and to share their stories, because otherwise you may not get the right drugs; you won’t know whether you are able to receive them. Please find out about your genotype or ask your CF centre if you don’t know it. If they don’t have a record, the Cystic Fibrosis Trust will pay for them to test if for you.

I hope my story will help more people with cystic fibrosis to come forward to share their stories and find there genotype. I am quite passionate when it comes to this kind of thing, especially when it comes to my health and other CFers!

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