Not another science lesson!?

So, we figured we may as well start right at the beginning (not quite with the dinosaurs though unfortunately), but the terribly interesting genetics and diagnosis!

Just a quick disclaimer - CF cannot be caught, you are born with it

CF is a genetic condition, so it involves a recessive gene (CFTR gene in chromosome 7). The CF recessive genes work like any other; if both parents have one dodgy gene then there is a 25% chance of the child having the condition, a 50% chance of the child having just one gene and ... you guessed it… a 25% chance of the child being completely unaffected. I was the former 25% and my sister the 50%.

However, when I eventually come to have children (providing the world is still a place I’d want to raise a family in - this isn’t looking likely at the moment 😶) if the father had the dodgy gene then there would be a 50% chance of my child having the actual condition so although average isn’t exactly something I strive for, I do hope the future father of my children has the most boring, generic, average set of genes any scientist has ever laid their eyes on. Saying this, research shows that 1 in 25 people carry the recessive gene without even knowing it.

Diagnostic Methods

The heel prick test was introduced in 2007 to routinely test newborns for a variety of rare medical conditions such as CF. Although this test is not conclusive proof, it does provide an indication of anything that might be lingering. If the test suggests CF, then further investigations would be run, including a ‘sweat test’, this measures how much sodium chloride is found in the sweat, if the reading is above average, it is further evidence to support a CF diagnosis. This test is used as we CFers sweat excessive amounts of salt due to the rubbish movement of salt and water in our cells, after an exercise session (or after a night out) you could literally shake me over your fish and chips.

Before routine testing was introduced, a lot of CF babies were diagnosed through Meconium Ileus (where there is a blockage of baby fluid in the bowel) or ‘failure to thrive’, both of which point towards something a bit suspicious going on. However, my experience was quite different, this would probably be better coming from my parents, but I shall try my best.

My Diagnosis

I was not diagnosed until 15 months as I didn’t show the typical symptoms of a CF baby, I was a proper chubbster so I was evidently not ‘failing to thrive’, and CF wasn’t particularly known to the public at the time so information on it was extremely limited.

The following are the symptoms I experienced before diagnosis: a salty ring around my head board in the morning, nappies that would make a nuclear power station jealous (from not being able to digest ANYTHING), lots of hearty coughing (dad pointed out that it was not a normal tickly cough but a ‘oh my days, what’s wrong with our child, *gets the adrenaline pumping*’ type of cough… yeah that one that we’re all familiar with obviously and finally I'd sneeze two massive ‘snottrools’ every morning (the mucus from my lungs no doubt).

It took a couple of trips to and from the GP to get referred to the paediatric respiratory department as he seemed to think it was merely a chest/sinus infection and that I just had very random, explosive powers from my bowel? I considered being low-key regarding the bowels issues but it's just as much of my condition as anything else so I do not apologise for being TMI but I would like to point out that this is now largely under control.

Mum and baby Annabelle (ha) casually went along to the hospital, expecting just a brief examination and quick chat with the doctor (hence why my Dad went into work as normal). But this day turned traumatic pretty quickly. There were far more tests than anticipated which meant all four appendages were being bandaged up awaiting blood tests, tubes stuffed up my nose and bleeding because of it, crying absolute murder whilst being prodded and poked by people neither of us had ever met before. I cannot imagine how terrible this was for a first time mum, on her own and with a child that hadn’t even reached the age of two. (I’m obviously exceptionally lucky that I can’t remember any of this).

We wouldn’t get the results immediately, but mum seems to think that throughout the first chat with the doctor, the team already knew that I had CF.

And that was that really, we were suddenly thrown into this world of monthly hospital appointments, medications, nebulisers and just trying to process the notion of me having a life-threatening chronic condition, and again, given there was no such thing as google back then, there was nowhere to go for support or reassurance.

As I was just finishing up the editing on this post, I got weirdly upset when looking at the photo below. I can't quite put into words why but it's probably what my English teachers would describe as 'dramatic irony' (Literature students - I apologise if this, is in fact, false).

Baby Annabelle and the nebuliser at the time, I used to eat cheerios through the face mask