What Is Cystic Fibrosis?
Cystic Fibrosis is a genetic disorder that attacks both the respiratory and digestive systems. Mucus in patients with CF is very thick, and collects in intestines and lungs, this causes difficulty breathing as well as chronic lung infections and scarring; sufferers often compare it to breathing through a straw or drowning. Most patients will eventually require lung transplantation; unfortunately the lack of donors means that most of them will die before a healthy pair of lungs is available. The mucus in the pancreas and digestive system makes digestion very hard, sometimes blocking the pancreatic ducts completely, therefore causing malnutrition. Due to this, CF sufferers are required to take an average of 35 pancreatic enzymes every day, to aid digestion and absorption of nutrients. The sweat glands are also affected by this disease, causing sufferers to lose a huge amount of salt when they sweat. This can upset the balance of minerals and can cause abnormal heart rhythms, putting them at risk of going in to shock. Aside from the main aspects of CF, there are also other side effects such as poor growth, premature arthritis/osteoporosis, liver failure, gallstones, reoccurring nasal polyps, infertility (mainly in males)…
Cystic Fibrosis will only be inherited if both parents carry a defective Cystic Fibrosis Trans membrane Conductance Regulator (also known as CFTR).When both parents are carriers there is a 1 in 4 chance of the child being born with CF, a 2 in 4 chance of it being born a carrier and a 1 in 4 chance of it being born CF & carrier free.
Carriers of the defective CF gene are perfectly healthy and unless they have a CF child with another carrier, they will be completely unaware they are carriers, and that their children might be carriers. This gene can be passed down through generations without it being noticed, hence the importance of genetic testing – in Gibraltar alone there are 1,200 potential carriers and the CFFG will strive to put in place a carrier testing facility for anyone who has relatives with CF, or believes they could b a carrier. This is already in place in the UK and consists simply of a blood test or saliva swab.
CF is a terminal illness and life expectation for a patient is around 37 years and to help delay organ failure, CF patients have to take an average of 60 tablets a day, along with 2-4 physio sessions, 4-6 nebulizers…
Insight spoke to Rosie Fernandez, founder of the Cystic Fibrosis Foundation Gibraltar (CFFG) and only CF sufferer in Gibraltar; and this is what she had to say:
“I decided to start the CFFG when I spent a long period of time in hospital in Sevilla, and that made me realise that I needed to raise awareness about CF in Gibraltar, to hopefully prevent more cases of CF occurring, and if they do, by then people would be aware of what CF is and have a wider knowledge of it, both civilians and health care professionals.’’
Is it scary to think of the future?
“With CF, you can never plan ahead, as you never know what’s coming. When I realized CF was a terminal illness (at about 13), I sort of began mourning… I went into denial for a long time, then I felt angry and depressed and felt that it wasn’t fair, and felt there was no reason to carry on living if I was going to die at 30 (which was the life expectancy when I started looking up CF – it is now 37), and then I met the man who later became my husband, and he made me realize that I could have a future and helped me enjoy every day as if it was the last, literally. And now, after spending a lot of time in hospital, from December to March, I felt like I was the one holding the torch for CF and if I didn’t do something about it and raise awareness and start up the charity no one else would. And here we are now successfully registered and ready to rock. Back to the initial question… yes there are days when I get worried about the future, and bringing kids up (or not)…but there are many more good days than bad ones.”
What would you say to other CF sufferers who might be reading this?
“To anyone out there with CF, if you are planning to move to Gibraltar or the Campo area, please be sure to contact me for any queries regarding doctors, specialist clinics, etc, and if you are in Gibraltar and your baby has just been diagnosed, please feel free to call me for any advice about nutrition, physiotherapy, or just for a supportive chat.”
How important is Organ Donation to a CF patient?
“Organ donation is paramount in CF, due to the possibility of extending and enhancing the quality of a patient’s life. One of the main organs that is donated and in demand for CF sufferers are the lungs; but we must not forget other organs that us CFers may also need along the course of our lives: Liver, Kidneys, Heart (which is often transplanted at the same time as the lungs) and Pancreas. Because CF lungs are infected with germs, people with CF require 2 new lungs. Otherwise, the new lung would get infected by the CF lung. This is called bilateral lung transplant.
The success rate of lung transplantation for CF patients is encouraging but like any other major surgery, transplants carry considerable risks and a transplant is appropriate only for a patient who is severely ill and has tried all other forms of conventional treatment. But be aware, that if the patient is too ill, fi for example he or she has insufficient weight or extreme infection, the transplant may not be suitable and therefore, to my knowledge, there are no other options.
I would also like to bring to the attention of people in Gibraltar, that as some of you may be aware, we do not have an organ donor card facility, as the UK & Spain do, and therefore hundreds of local organs are wasted due to the deceased not carrying a donor card, and as before mentioned, most people die on the waiting list. The CFFG in conjunction with some local supporters will do all possible to make sure Gibraltar has an organ donor card facility soon.’’
In what way would a transplant change a patients life??
After a transplant you no longer need physiotherapy twice a day or nebulizers four times daily. The downfall being chronic rejection, which is the main cause of death post-transplant, although in some cases this can be controlled and some people get to live a fairly normal life.