Back to Basics

I’ve come across plenty of new lovely people over the last couple of years through socialising, meeting partners of friends and joining the work force and I always fail to remember that a lot of people in my life right now didn’t know me before Kaftrio and therefore don’t know much about CF as it’s not the focal point of my life anymore. I promise I’ll do a post explaining Kaftrio soon enough. So, in this blog, I’m going to briefly cover the bases once again of the biology and physiology of cystic fibrosis and the presentations frequently seen as a result. Just a disclaimer, I'm not medically trained so please don't take any of this as unflawed knowledge or medical advice.

What is cystic fibrosis?

Cystic fibrosis is a genetic condition, it is also life-threatening so here are some interesting statistics for you: back in 1950s, the life expectancy for a baby born with CF was only about 5 years old. Fifty years later, the life expectancy in 2000 is forty years old (so if you've left anything unsaid, you've got 17 years to tell me before I kick the bucket ;) and I think now they're estimating children born today to live well into their fifties. Medicine has and always will be advancing so who's really to know how long we're going to live.

Starting at the very beginning, our CFTR gene is faulty. Both of my parents carried one faulty gene of two CFTR genes so when I was created, I was given both of their faulty genes resulting in having the whole CF condition, whereas my sister only got one of their faulties and was blessed with the one of their non-faulty genes and thus does not have the condition.

The CFTR gene is responsible for the movement of salt and water between the cells and as those with CF aren’t functioning as they should, it means our bodies create excesses of mucus throughout our bodies, including lungs, intestinal track, pancreas, and even the reproductive organs.

So, the CF gene causes bronchiectasis, which is the widening and build-up of sputum in the airways making the lungs susceptible to repeated infection. For me personally, I have carried one or two different bacteria in my lungs for pretty much my entire life, these bacteria thrive in sputumy lungs and so infection count can quickly increase resulting in the lungs creating more and more sputum. Prior to Kaftrio, I was having exacerbations every two months which would result in a very unpleasant fever (increased heart rate, blood pressure, temperature) and would make my lungs very obstructed with thick green sputum

(as seen here), making breathing very difficult. It really did feel like I was drowning in pond sluge, my oxygen sats would drop to low 90s because the alveoli sacks were literally full and couldn’t exchange carbon dioxide to oxygen.

It was just an overall horrendous experience. During these exacerbations, I remember not being able to lie down because the sputum would push its way higher up my lungs and that’s when the panic sets in like my lungs are actually full and I cannot breathe. It was completely debilitating, there were occasions where I couldn’t walk to the bathroom without having to stop and sit down to catch my breath.

People with CF also occasionally develop enlarged blood vessels in the lungs which can leak or ooze resulting in haemoptysis (coughing of blood), this is the part of CF that I find most difficult to cope with. It’s so traumatic when you’re coughing warm blood, you can literally feel something breaking in your lungs, you cough and look down and there’s bright red blood all over the tissue. Sometimes mine is really mild and manageable but other times there’s been I would guess around 20mls. I’ve recently been experiencing nightmares and flashbacks of the blood which I think were exacerbated by the surgery flashbacks.

In terms of the digestive track, the issue starts in the pancreas. The pancreas creates enzymes which are transported to the digestive system through little tubes but in CF these tubes are blocked, causing the pancreas to store up these enzymes resulting in an inflamed pancreas. As the enzymes are not getting to the digestive system, we need to take enzyme supplements with food in order to allow our bodies to digest the food. Not every CF patient is pancreatic insufficient, but this is why typically most CF patients are short and skinny, especially in childhood. The issues with the pancreas can also lead to cystic fibrosis related diabetes.

General symptoms of the digestive issues include greasy and bulky stools, frequent and/or difficult bowel movements, constipation, nausea, swollen abdomen, loss of appetite.

Moving onto the fertility problems. So, for the men, fathering a biological child is very difficult without assistance as the tube that carries sperm from the testicles to the penis is either missing or blocked. The sperm is perfectly healthy but it literally just can’t get to where it needs to be to create a baby. This affects approximately 98% of male patients.

There are two issues with female fertility. Women with CF are more likely to experience irregular periods, particularly if we became unwell or very underweight which means we might not ovulate every month. The second issue with women with CF is we may also have thicker vaginal mucus, which can make it harder for the sperm to reach the egg.

However, on the brighter side, when women started taking Kaftrio, there was a big baby boom because those who perhaps weren’t particularly safe during sex before (because there was little reason to be), had not anticipated the increased likelihood of getting pregnant as a result of the effects of Kaftrio on the body and found themselves surprised with a little baby on the way. I hope I explained that clearly enough for you to understand my drift.

So yes, that’s the basics covered of CF, needless to say there’s far more going on than just that and many more complications of the condition itself and the various treatments used but this should cover the main issues seen in patients.