Cystic Fibrosis and My Sister: Chapter 1 - Diagnosis
- Rebecca Howse
- Feb 2, 2021
- 5 min read
Updated: Jun 9, 2021
We all have those days that change your life forever. We all know the delicateness of life and its unprecedented talent for throwing curve balls our way, and no matter our knowledge of the unpredictable beauty that is life, we are never truly ready for what it may bring when it does. This became apparent to me in the deepest way when my sister’s life changed forever. My sister; my beautiful, kind, inspiring sister, was thrown a curve ball that none of us saw coming. To this day, as a family, we are still getting to grips with this, learning about it, processing it, and more importantly than anything, learning to live without anger for why this could happen to our beautiful girl. This is the story of how life can change in one day, and why I am doing this triathlon. This is the story of my sister and Cystic Fibrosis.
On 23 April 2018, after having had several appointments, scans and tests due to a cough that wouldn’t go away, my sister, at the age of 30, was diagnosed with Cystic Fibrosis. This came as a complete shock. Cystic Fibrosis (CF) has historically mostly been diagnosed in babies and young children who are consistently unwell. But since 2007, every baby in England has been screened for CF using the heel prick test. From the point of diagnosis, parents have to get into a new routine of daily medication and chest physiotherapy to keep their child’s lungs as clear as possible and avoid infections. To receive this diagnosis at an adult age, in someone who is generally quite well, is rare and unexpected.
Unfortunately, many children and young adults die from their CF. Currently, about half of people with CF live past the age of 40 – but many do live much longer. CF affects everyone differently, with some people getting very ill from it, and others able to stay relatively well. New treatments today like Orkambi, Symkevi, Kalydeco and Kaftrio (Trikafta) have been game changers because they treat the root cause of CF rather than just the symptoms – these drugs are massively improving people’s quality of life and outlook.
To give you more of an understanding of what CF is; Cystic Fibrosis (CF) is a genetic condition which causes problems with the way the body processes salt and water. It’s something you are born with, and that you can’t get rid of. This means that mucus - which normally helps protect the inside of the body - becomes too thick and causes problems. When it gets stuck in the lungs it provides the perfect environment for bacteria to grow, which is why people with CF get repeated chest infections. Over the years, repeated chest infections cause physical damage to the lungs and people’s lung function will gradually decline. People with CF also get rare infections that most other people will never get - and some of these are hard to get rid of or resistant to antibiotics. Thick mucus is also a problem for the digestive system. It can stop the pancreas working, leaving people unable to absorb fat and nutrients from their food without taking artificial enzyme tablets. Having a pancreas that doesn’t work properly also leads to CF-related diabetes in many adults.
To give you even more detail: it’s the CFTR gene that tells the body how to process salt and water. We all have two copies of the CFTR gene in our cells, one from our mum and one from our dad. Both copies of your CFTR gene need to have faults for you to get CF. There are lots of different possible faults that can happen in the CFTR gene. Many people have a fault called Delta F508 in both of their CFTR genes. This leads to the most common type of CF, which is often quite severe.
My sister has a Delta F508 fault in one of her CFTR genes, and a rarer fault in her other CFTR gene. This means that without knowing it, she has lived her life with this disease. Although being diagnosed later in life is due to the fact that she did not suffer much with health or symptoms as a child, so we never knew there was anything wrong, it does now mean that in her adult life there are new threats she has to be very careful of, and she has started to develop more chest infections which, in some cases, have needed very aggressive treatment.
As CF is a genetic disease, my sister felt that this diagnosis wasn’t only hers. She had to then do the hardest thing of telling me, our mum, and our dad, that we all needed to have our genetics tested as we are also at risk of either having this disease, or carrying the mutated gene which could affect any future children. I believe my mum struggled the most with understanding the genetic side of this as she blames herself for passing on this gene to my sister. I can’t help but struggle to understand the pure chance that I do not, thankfully, have these mutations in the same genes I carry from the same mum and dad, so why her? Why not me? This is something I still struggle to come to terms with. But this is not my story, this is my sister’s story.
After the diagnosis had sunk in, if at all that is truly possible, my sister’s life then changed overnight. She had to learn how to do chest physiotherapy every day, taking up hours of her time every day in order to make sure the build- up of mucus in her lungs does not become too much. She has to inhale antibiotics and take countless tablets for a few chest infections that have been found. Everything seemed to come at once and consequently her mental health took a blow like no other. How do you process this kind of diagnosis at the age of 30? With your entire life ahead of you and suddenly you are labelled with a disease that will be with you forever? A disease that has changed your entire daily routine and threatens the health of your lungs, your apparatus for breathing, inhaling oxygen, those incredibly crucial parts of our physical being.
Throughout 2018 and 2019 she struggled more and more as she tried to get used to this new way of life. Life had thrown her a curveball of a momentous size, and the diagnosis was only the beginning. This is why I, along with my best friend Sarah, are running a triathlon in June in order to raise awareness and money for this cause, more research and more funding for support. I have seen first- hand how this disease has completely overtaken my sister’s life, so over the next few months I will be continuing to share her story with you, whilst training hard for a triathlon and hopefully raising money for Cystic Fibrosis Trust.
Please stay with me whilst I tell you this story, stay by my side as I open up to you about her life, as the diagnosis is really only the beginning.
This is the story of my sister and Cystic Fibrosis, but this is also a story of hope, science, and a family bond that shines much brighter than any faults in our genes.
“The day I was diagnosed, I had this really strong sense that a bomb had just gone off, and the shock waves were heading straight for my family, my body, my future, unstoppable. It was like my whole life was under threat. Since that day, life has been a roller coaster, and a lot of the time I’ve really struggled to remember who I am and to be happy again. But my family and my partner have been my steady rocks, I don’t know how I’d cope without them. As we move further and further forward from that day in 2018, we find new ways to cope and to give something back. Thank you for being part of this, by reading this page, learning about CF and supporting Becci with her triathlon!”
- Abi Howse, my beautiful sister
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