Posted on 18/06/2019

Living with CF: “There’s no point sitting around and waiting to die.”

Living with CF: “There’s no point sitting around and waiting to die.”

What’s it like to live with a chronic, genetic condition that may affect your life expectancy? We asked two 20-somethings to share their experiences of living with cystic fibrosis, commonly referred to as CF.

Cystic Fibrosis (CF) is a genetic condition that causes difficulties with the body’s ability to make certain proteins that affect the production and movement of salt and water in the body. This causes over-production of mucus, which leads to various symptoms and requires daily treatment. People with CF also have to live their lives in the knowledge that the condition may cause long-term damage to their affected organs, leading to a shortened life expectancy – with most people living to around middle age.

To help raise awareness of the condition, we spoke to two young women who are living with CF about how the disease affects their daily lives, wellbeing, and their feelings about the future.

Symptoms and diagnosis of CF

Lucy is a 26-year-old, part-time teaching assistant and lifestyle blogger who lives in South Wales. She was diagnosed with CF as a baby.

“This is what my mam has told me because I obviously can’t remember that much from being a baby! I was diagnosed with CF at six weeks old. The big clue was that my Mam was feeding me lots of bottles of milk but I wasn’t putting on any weight. The hospital eventually carried out a sweat test and that was when it was confirmed I had CF.”

Lucy was born prior to newborn screening which, nowadays, can determine a baby’s risk of having CF through analysing their blood via a heel prick test. The initial symptom of CF raised by Lucy’s mum, was that her body was not absorbing essential nutrients from formula milk. Cystic fibrosis causes digestive issues for some people, who may not produce the pancreatic enzymes needed to digest foods, especially fats. A ‘sweat test’ is still one of the main ways to diagnose CF. It measures the amount of chloride (salt) in sweat, as people with CF often have higher levels of chloride.

Similarly, Annabelle, a Brighton-born, 20-year-old biochemistry student at the University of Surrey, was diagnosed within her first year of life.

“I was diagnosed at about 12 months old due to the whole family catching the flu one winter and me being unable to recover. Up until that point, my mum instinctively knew something was wrong with me but the GP kept dismissing her concerns as ‘new mum worries’, then she took me to a different GP when I caught the flu and he sent us straight to A&E where I had a chloride sweat test done and they confirmed I had CF.”

Annabelle’s symptoms were related to her lungs, which is frequently the case for people with cystic fibrosis. The disease affects the respiratory tract, over-producing mucus that causes airways to clog, making infections within the lungs common and difficult to overcome.

Both Lucy and Annabelle told us about the CF symptoms they experience today.

“The symptoms I get from CF are chest infections, frequent coughing, bowel blockages, sinusitis, osteoporosis, nasal polyps and a few others! I also have CF-related diabetes. All people with CF have different symptoms, some people with CF may not experience these problems.” – Lucy

“I have the regular CF symptoms including breathlessness, tightness in the chest, frequent lung infections, difficulty absorbing food and maintaining my weight, problems with acid reflux, pancreas insufficiency leading to needing enzyme supplements with food and causing me to develop CF-related diabetes which is treated with regular insulin injections. I also class mental health issues as a symptom of CF, and I have battled social anxiety, health anxiety, depression and PTSD since my teenage years.” – Annabelle

As both women explain, CF affects various parts of the body and everyone has a unique experience of the disease. Both have CF-related diabetes which occurs in some people due to problems with their pancreas, which is unable to produce insulin correctly. Some will develop early onset osteoporosis, which occurs for a number of reasons, such as lung infections that raise levels of bone-degrading chemicals within the body, malnutrition or steroid medication use.

As Lucy explains, there is variation in symptoms experienced by those living with CF, and this is due to the type of cystic fibrosis they have, determined by which genetic mutations are at fault.

“We all have different genotypes, so mine are DF508 and G542X, both are quite common which makes it easier for the doctors to give me the right medication.” – Lucy

“I am homogenous for the DF508 cystic fibrosis gene mutation. This means I have one copy of the DF508 mutation from my father and one from my mother. This combination is the most common mutation in the CF population and is commonly referred to as ΔF5082.” – Annabelle

Lucy and Annabelle have the same genetic mutation, which around 70% of people with CF have. There are, however, over 2,000 different mutations of the cystic fibrosis gene.

Daily life with CF

CF treatment is often a daily routine and focusses on managing symptoms to lessen their impact on the day-to-day, but also aims to keep on top of the disease and try to reduce the future damage it may do to vital organs.

“I take 20 different medications a day, including nebulisers, tablets and inhalers. Some are ok, some are not so pleasant, especially the tablets you have to chew! The number of medications I take on a daily basis has increased over time and will most probably continue to do so. It’s all very time consuming and is very tiring doing the same things every day. If you’re on IV antibiotics, it completely takes over your life, especially if you carry out the IV’s at home.” – Lucy

“There are regular things that I have to do for my health during a day such as taking vitamins, psychiatric medications and enzymes, injecting myself with insulin, doing chest physiotherapy and nebulisers to try and cough up mucus, eating lots of food (ideally around 5000 calories a day) and taking regular antibiotics/inhalers. On particularly bad days there will be extra nebulisers and physiotherapy or trying to manage my mental health.” – Annabelle

It's key for people with CF to reduce the mucus build-up in their lungs and respiratory system, for comfort and also to help reduce the constant risk of infection. This is often done using physiotherapy techniques to physically manoeuvre the mucus out of the lungs. Both Annabelle and Lucy also have to be physically active and undertake regular exercise to help their lungs.

“I aim to do at least 1 hours’ worth of exercise every day to help clear my lungs.” – Lucy

“My chest physiotherapy treatments include trying to do as much aerobic exercise as possible to shake my lungs and dislodge the mucus, if I cannot achieve this properly I need someone to pound on my chest whilst I’m lying down in a steady beat to try and force the mucus to shift. I have always had to do regular exercise for my health and so I have come to associate it as a chore, therefore I’m always on the search for ways to stay active that are fun for me to do.” – Annabelle

Many people with CF use equipment that enables medication to be breathed into the lungs, and OPEP (Oscillating Positive Expiratory Pressure) devices which work to open airways and improve mucus clearance. Some people may need antibiotics to keep on top of frequent bugs, and drugs that thin mucus out so it can be coughed up more easily.

“I do physiotherapy twice a day using something called an OPEP Aerobika® device which helps clear mucus.” – Lucy

“I also use instruments which I breathe through that often contain a mechanism inside to cause vibrations in my lungs as I breathe out. The nebulisers I do are often an inhaled antibiotic to fight off any lung infections and a nebuliser containing a salt water solution; breathing this in helps to irritate the lining of my lungs (causing me to cough more) and causes my lungs to produce more water in response to the salty atmosphere. This basically mimics how the faulty CF channel should work inside my body and will help to make the mucus a bit more watery and thin." – Annabelle

Diet for CF patients is really important. Many people are unable to digest adequate levels of nutrients, especially fats, so they need to eat a high fat diet in order to maintain a healthy body weight. Being underweight can make symptoms worse.

“With CF, the dieticians tell us to aim for a high calorie diet, the more weight we have, the easier it is for our body to fight off infections. Again, that’s easier said than done. People with CF have to take Creon® (Pancreatic Enzyme Replacement Therapy) before and during eating – it’s important to take the right amount of Creon.” – Lucy

“CF affects my diet a lot. People are always very shocked about how much I can eat in a day and may not understand that the ‘un-healthiness’ of the food I eat is actually what I need to keep the weight on me and stay alive.” – Annabelle

Cross-infection and life-saving drugs

Lucy and Annabelle need to keep their levels of lung mucus under control because mucus allows germs to thrive and multiply, putting them at great risk of infection, and of infecting others with CF with different bugs, if they come into contact. Therefore, people with CF are unable to meet each other face to face, but many are able to connect with each other online to find mutual support. As Annabelle points out though, this can be a double-edged sword.

“I grew up knowing another girl who lived near me with CF and we went to the same secondary school for a while. We had to be careful not to get near each other in the school canteen and halls because people with CF can’t get close due to cross infection risks. I have started to branch out and integrate into the online CF community a bit more as I’ve gotten older but it can be difficult seeing patients in America, Italy, the Netherlands etc. thriving because they can access precision gene-altering medications (‘Orkambi’) that patients in the UK cannot get hold of. It is also very easy to compare yourself and your symptoms, lung function etc. to other CF patients and I can sometimes begin to feel inferior with my health and how I handle it.” – Annabelle

“Because of cross infection rules, people with CF can’t meet each other. When I go to clinic, all outpatients have to be segregated into different rooms due to this rule. So social media is like a godsend for me because I can speak to so many other people with the illness and I’ve made some lovely friends because of that.” – Lucy

Annabelle raises an interesting point about the drug Orkambi, which is the subject of much debate in the UK because it is not available on the NHS, due to the National Institute for Health and Care Excellence (NICE) questioning its cost effectiveness. Some CF patients in the UK are currently using the drug, but only when it is made available on compassionate grounds. Orkambi is a precision medicine, which means it targets certain genetic mutations that cause cystic fibrosis, and it could be used by around half the people who have CF in the UK. Patients across the world are benefitting from improved lung function and better quality of life whilst using the drug.

Coping with a chronic disease

Annabelle was open in telling us that she takes psychiatric medication and finds herself experiencing mental health problems as a result of her CF. Many people with a chronic health condition will experience issues such as anxiety, depression and stress, due to the huge impact that living with ill health has on daily life. It’s really important for people with CF to manage their health both physically and mentally, as those with untreated depression often have worse lung function, lower body weight, and more hospitalisations. Annabelle is facing her mental health difficulties head on and accepting medication and support. Both Annabelle and Lucy try to deal with their disease with a positive attitude.

“I try not to let it affect my daily life, I’ve always said that I would do my best not to let CF take over my life too much, however that is easier said than done.” – Lucy

“I tend to live by the motto ‘fake it till you make it’ and aim for everything that an able-bodied person would aim for because there’s no point essentially sitting around and waiting to die.” – Annabelle

CF is generally a life limiting disease, although the life expectancy for people living with the condition is improving all the time, thanks to new treatments becoming available. We asked Lucy and Annabelle how they cope with planning for their futures.

“I try not to think about the future too much. However, when I watched the film Five Feet Apart, that really brought it all home about what my potential future with CF will look like. One line from the film really stood out for me – “CFer’s are living on borrowed time”. That line hit me more than anything I’ve heard about CF. Since then, I have made it my mission to live each day to the max and if there is anything in my life that is making me unhappy, then it’s time to get rid of it! At the end of the day, life is too short, you have the choice of how your life pans out, if you’re unhappy with it, fix it! People will say that not thinking about the future is quite a daft thing to do, but I’d rather take each day as it comes and cross the bridge of worsened health when I get to it.” – Lucy

“To be quite honest I don’t let myself dwell on the future, I’m aware that my life expectancy is a lot lower than healthy people but it’s counterproductive to live by this expectation. I plan for the near future (next 2 years or so) and take one day at a time because I know that my health can be unpredictable.” – Annabelle

We would like to thank Lucy and Annabelle for sharing their stories with us. If you or someone you know is affected by CF, contact the Cystic Fibrosis Trust for information, support and advice.

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