Cystic Fibrosis in Malta – Why Are CF Sufferers Being Ignored, Not Saved?

Cystic fibrosis is a genetic condition that causes mucus build-up within the lungs and the digestive system, causing lung infections and food digestion problems. Typically, CF symptoms start to show up in early childhood and worsen over time due to an increase in lung and digestive system damage, leading to an unfortunate shortened life expectancy. Adequate treatments can help reduce CF effects, promoting better living. Scientific evidence has shown that Trikafta (a.k.a. Kaftrio in Europe) has a positive impact on CF patients, improving their lung function by 14% (Cystic Fibrosis Trust). The downside to this is that it is a very expensive drug which makes it impossible for CF patients to purchase it themselves. Mandy Vella, a young 26 year old woman with Cystic Fibrosis in Malta has been battling authorities for months, pleading them to save her life and the lives of all other Maltese CF patients by importing and providing this much needed medication for free, but her pleas seem to be falling on deaf ears…

We at wham connected with Mandy online to learn more about her own personal daily struggle with CF.

“Cystic Fibrosis can feel like living under water. It’s a constant battle to breathe. Giving that breathing is mostly taken forgranted by people, it can be challenging to explain to others about CF. I like to compare that the current situation we are living in of Covid-19 is what a CF patient has been living all along. The fear of germs, the hand washing, sanitation, not touching public doors/lifts, very rare use of public bathrooms, cleaning of groceries, making sure to change clothes before sitting anywhere at your house after coming from outside, avoiding hugging and keep a safe distance from people to avoid getting sick“.

But the constant struggle isn’t just about avoiding germs, it goes beyond, as Mandy continues to explain to us…

“Someone with CF has to stay very careful and make sure that he/she is working/studying at a healthy environment. CF also brings along the importance of consistency, which means 3 times a week of chest physio, medication sorting every week, everyday medication that needs to be taken on time, home nebulizer and a good hygiene“.

Nonetheless, Mandy is not just beautiful and wise beyond her years. Her resilience is astounding, as clearly shown in her general outlook on life…

“Although CF brings along many challenges like self isolation, hospital stays, operations and the everyday struggles of nausea, feeling sick all the time and breathless I like to think of it as something extra special. CF has taught me a lot about life in general, respect and also self love. CF is not who I am but another something that completes me“.

Needless to say, the hardest thing for Mandy and all her friends with CF is undoubtedly the way in which authorities have been ignoring and refusing to help them for months, denying them the chance of a better quality of life and less daily suffering, which can be achieved through the availability of a life-saving medication…

“Although CF is now being introduced to new breakthrough medication (Trikafta) which could potentially save lives, we are still facing difficulties to get the medication to Malta. I am hoping that the authorities we will be giving us a chance at life before it’s too late“.

Cystic Fibrosis Symptoms

Cystic Fibrosis causes mucus build-up within the lungs and the digestive system, which causes breathing problems as well as increases the risk of lung infections, possibly leading to respiratory failure. Excessive mucus also clogs the pancreas. Since the pancreas is responsible for food digestion, clogging of the pancreas leads to inadequate digestion and lack of nutrient absorption from food. In fact, CF patients need to consume a higher amount of calories than normal to avoid becoming malnourished.

Cystic Fibrosis is a genetic condition with which a person is born. Thus, it cannot be spread, and one cannot ‘catch’ CF from someone with the condition.

Cystic Fibrosis symptoms include:

• recurrent chest infections
• low weight and growth rate
• jaundice
• problems with the GI (digestive) system such as diarrhoea or constipation
• respiratory system problems such as wheezing, coughing, shortness of breath, and Bronchiestasis (airway damage)
• in newborn babies with CF, a bowel obstruction (Meconium Ileus) is present, which may require surgery

Diagnosis

There are a number of tests that can be performed for the diagnosis of Cystic Fibrosis in Malta, starting from the newborn blood spot test (a.k.a. hell prick test) which is performed right after birth. If screening suggests that CF is possible (or if the newborn test wasn’t performed at that time), additional tests are performed to confirm diagnosis. These include a sweat test, which checks for abnormally high amount of sodium in sweat, and a genetic test in which blood or saliva are checked for the gene causing CF. The latter can also be performed to check whether one is a ‘carrier’ for the CF gene (including couples with CF in their family history who would like to conceive).

Complications

Cystic Fibrosis may also lead to the development of other health conditions, namely:

• osteoporosis
• diabetes
• liver issues
• fertility issues (especially in men)
• nasal polyps
• sinus infections
• higher risk for infections (people with CF should avoid meeting face to face)
• worsened symptoms or possibly death in case of a serious infection or respiratory failure

Cystic Fibrosis In Malta – Treatment

While Cystic Fibrosis cannot be fully cured, it can be controlled so as to reduce complications risk and enable a better way of life. Medication may be administered to treat lung-related problems as well as a form of prevention. Physical activity and airway clearance techniques are also recommended for the reduction of mucus in the respiratory system.

One of the most effective treatments in controlling Cystic Fibrosis is Trikafta (a.k.a. Kaftrio in Europe). Cystic Fibrosis is caused by mutations in the CF gene, leading to defects in and the malfunction of the protein CFTR. As a result, thick sticky mucus builds up in certain organs, such as the lungs. Trikafta adds elexacaftor to tezacaftor and ivacaftor to target the CFTR protein defects caused by certain mutations, helping responsive CFTR proteins to function better (Vertex Pharmaceuticals Incorporated).

According to the NHSE, three in five patients with CF could benefit from the new triple combination treatment, Kaftrio. NHS chief executive Simon Stevens stated that Kaftrio is a potentially transformational treatment for cystic fibrosis which will help thousands of people lead longer, healthier lives (Iacobucci, 2020).

Unfortunately, Mandy has been working hard since 2018 so that once this treatment becomes approved for Europe, it would be introduced in Malta as well. The Malta Medicines Authority could have approved this treatment back in August 2020, but unfortunately, up until today, Mandy is still awaiting replies from the highest authorities in Malta. They seem reluctant to take a positive step towards giving her and the other individuals with Cystic Fibrosis in Malta a new hope with better quality of life through the provision of this life-changing medication.

Statistics

Although we have tried multiple times to get access to official statistics in relation to Cystic Fibrosis patients in Malta from the DHIR, it was to no avail. According to Mandy, there are currently about 20 individuals living in Malta who suffer from Cystic Fibrosis. Could it be that Mandy’s plea keeps getting ignored by Maltese authorities due to the low number of individuals needing the mentioned treatment? Sadly this seems to be a common occurrence in our country. It shouldn’t matter how many people would benefit from a proposed change. Every single individual deserves the best quality of life possible, and if the mentioned treatment means giving individuals like Mandy the possibility to live in a better way, then nobody and no one should deny it!

We at Wham join Mandy in her appeal to the government and the Medicine Authority to provide this medication sooner rather than later.

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Update…

The day after this article was published, Mandy received some amazing news through an online video call by the Prime Minister of Malta, Dr Robert Abela…

We at wham are excited to hear about this advancement in the situation, and hope that the process of importing and providing Trikafta for Mandy and all other individuals in Malta suffering from Cystic Fibrosis will be as smooth and quick as possible, to ensure better quality of life.

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References

Cystic Fibrosis Trust. Kaftrio (Trikafta in the US) – Triple combination therapy. Retrieved from https://www.cysticfibrosis.org.uk/the-work-we-do/campaigning-hard/life-saving-drugs/triple-combination-therapy on 5th March 2021

Iacobucci, G. (2020). Cystic fibrosis: NHS England strikes deal to offer triple combination treatment. BMJ : British Medical Journal (Online), 370. http://dx.doi.org.ejournals.um.edu.mt/10.1136/bmj.m2643

NHS, 2018. Cystic Fibrosis. Retrieved from https://www.nhs.uk/conditions/cystic-fibrosis/ on 5th March 2021

Vertex Pharmaceuticals Incorporated. How Does Trikafta Work? Retrieved from https://www.trikafta.com/how-trikafta-works on 5th March 2021