Serena is a married mum of 3, living in Melbourne. She works as a lawyer for the Victorian government. Serena was diagnosed with CF in 2006. [She has one F508del and another mutation, resulting in residual function.] She writes about being told she had CF in her mid-30s when she was pregnant with her second child.
Better Late Than Never
Many CF patients have always known they have CF.
Then there are the strange ones like me. I was 35 at diagnosis, which is a weird time to find out that you have a fatal condition most commonly associated with children. When I was diagnosed, average life expectancy for CF patients was 38.
There was definitely an element of shock when I first heard my diagnosis, but also a good measure of relief. From about age 28, I’d been experiencing odd respiratory systems, particularly during the winter. Every cold I got seemed to drag into a chest infection with weeks of coughing. A couple of times I coughed up blood. I had ongoing chest pains.
When I reported these symptoms to doctors, the first impulse was always to do an ECG. But of course, those came back completely normal, and that’s where it would end. A couple of times I had chest x-rays, but they also didn’t show much.
By 2005, I’d managed to see a pulmonary specialist who diagnosed me with bronchiectasis – but with no explanation of how I’d got it or how I could treat it.
For me, a CF diagnosis explained a lot. It also had the advantage of gaining me admission to a CF clinic, a wonderful resource offering holistic care. The level of care most of us receive in a CF clinic so far exceeds anything we could cobble together ourselves, it’s quite amazing.
The downside of being diagnosed was all the glum prognosticating. The GP who shared the results with me made it sound like someone had died. I then saw a geneticist whose computer happened to be playing up during the visit. During one of the most memorable doctor appointments of my life, she was highly distracted, slapping her computer and calling tech support. It would have been comedy if it wasn’t so horrifying.
I later saw a social worker who told me I should brace for a short life expectancy and no more children. And they gave me some books to read which detailed the experience of bed-ridden CF adults. It was all relentlessly grim.
If I could give advice to diagnosis-sharing doctors now, I would encourage them to be broadly positive, and much more frank about what they don’t know. Much of the CF journey is uncharted in these days of medical miracles. Fifteen years after my diagnosis, my lung function is north of 80%, I don’t cough at all, and I lead a normal life. I work almost full-time in a demanding job, and most of my work colleagues have no idea I have CF. Nothing that I was told in those first weeks let me believe this was even within the range of possible outcomes.
All of this is largely thanks to the gene modulator drug Symdeko, the first treatment that made me feel like I no longer had CF. But my experience on hypertonic saline was also pretty good, definitely better than promised. I understand that I have been incredibly fortunate, but then again, many of us are now. And new treatments appear every year or two, offering more and more promise.
If you are newly diagnosed, there is much reason for hope. Given access to good Australian medical care and modern treatments, it may well turn out a lot better than you expect. You can probably still do all those things you’d like: travel, play sport, get married, study, have kids, get a new job.
CF is entering a new phase, and we are fortunate enough to be blazing that trail together.
This article was published in June 2021.
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