I was diagnosed in 2009 at the age of 38 with a chronic lung disease called Bronchiectasis.  At the time of diagnosis my doctor asked many questions including”is there any family history of Cystic Fibrosis?” To my knowledge there wasn’t so I wasn’t tested for it and the cause of my lung disease remained unknown. My doctor was shocked at how diseased my lungs were for someone who had only been presenting with symptoms for eight months. Over the next four years my condition deteriorated progressively  due to frequent episodes of infection and lung bleeding to the point where I was referred to another respiratory doctor for a second opinion.  It was decided I should undergo a Bronchial Artery Embolisation to seal off some abnormal blood vessels in my right lung. After the procedure the doctor came in to see me. He said he wasn’t sure  how successful the surgery would be because he usually only sees these abnormal blood vessels in patients with  Cystic Fibrosis. After he left my room my Mum asked me “I wonder if it’s relevant that I have a cousin who had 3 daughters with Cystic Fibrosis?” Not wanting to alarm her I said nothing, but immediately knew this information might be relevant. This cousin my Mum had spoken of over the years I thought were friends of the family, not relatives. When I was discharged from hospital I immediately rang my treating physiotherapist at the time who then consulted my doctor. It was decided I should be tested for Cystic Fibrosis. My sweat test results were inconclusive, and the genetic tests revealed I had one gene mutation for Cystic Fibrosis which in theory should make me a carrier. I was called in for an appointment to see my doctor who after assessing the results said he thought I have Cystic Fibrosis, based on my clinical features. There are approximately nineteen hundred gene mutations that are known to exist but can’t be tested for yet. It’s thought my other gene mutation is one of those. I may not ever find out what the other gene mutation is but I have a clinical diagnosis. Cystic Fibrosis is typically diagnosed at birth, but there are more people being diagnosed later in life in similar scenarios to me. I consider myself one of the lucky ones to have lived a reasonably healthy life up until my twenties. When I was born I spent the first six weeks of my life in the Royal Children’s Hospital, and apart from chronic bronchitis at the age of five, I lived quite well as I mentioned until my mid twenties when I started to have frequent chest infections.  So how did I manage to escape an earlier diagnosis?. I’m told that the missing gene mutation must be a milder one and a likely reason why I have significant lung damage is because it’s possible to be asymptomatic and still experience disease progression due to inflammation in the lungs. I’ve managed to condense quite a lot of drama into the past seven years and while it’s a tough journey my perspective check is all those people with CF who’ve been struggling since birth.

One of my favourite quotes is “You can let illness define you or rise above it and live”……

and I choose to rise above it and live!