Brief description
Cystic Fibrosis is a genetically passed down disorder that causes thick sticky mucus to build up in the lungs and in some people, the tubes to the pancreas which causes problems with digestion.
Genetics
What it means by genetically passed down disorder is that both parents must carry the CF gene for their child to be born with CF.
• There is a 25% chance that the offspring of two carriers will not be born with the CF gene
• There is a 50% chance that the offspring of two carriers will be born a carrier. This means that they carry the CF gene and are able to pass it on to others.
• There is a 25% chance that the offspring of two carriers will be born with cystic fibrosis.
Pancreatic Insufficiency CF
When someone is pancreatic insufficient CF, it means they have problems with their digestive system as the tube that transports enzymes out of the pancreas is blocked with thick sticky mucus. This means that the enzymes build up in the pancreas causing it to become inflamed. This can lead to: growth failure, weight loss, abdominal bloating, diarrhea and foul-smelling stools. Around 85% of people with CF are pancreatic insufficient.
Pancreatic Sufficient CF
Some people on the other hand are known as pancreatic sufficient, this means that they don't have problems with their pancreas, it is only their lungs that are blocked. Pancreatic sufficient people do not have blocked tubes coming out if the pancreas so they have enough pancreatic function to grow and maintain an ordinary health.
Mutations
The CFTR protein is what helps to maintain the balance of salt and water on the body's surface. The mutation of the CFTR protein (cystic fibrosis transmembrane conductance regulator) is what causes Cystic Fibrosis. The F508del mutation is the most common CF gene. If someone is notn with two F508del genes it can mean that their condition may be a lot more severe than those with other mutations.
Treatment
There is no cure for CF however there are many advancements in medical technology that can help deal with it:
• Kaftrio (sometimes known as Trikafta). This is a new drug that can be used to treat patients with CF who have at least one F508del mutation in the CFTR gene. It comes in the form of three tables taken daily. Two of these tables are taken in the morning and the third (Kalydeco) is taken in the evening. These tablets have to be taken with food or something fatty and they help to break down the bonds between mucus.
• Creon, this is used to help treat people who cannot digest their food normally due to a lack of enzymes. Taken by pancreatic insufficient CF patients.
• DNase Nebuliser is used to help break down the bonds between mucus.
Contact
Patients with CF are not allowed to be near each other or physically interact with each other since it puts them at a greater risk of passing on illnesses that they are both susceptible to.
Diagnosed
Cystic fibrosis can be diagnosed through a heal prick test when a baby is first born or through something called sweat testing. CF patients tend to sweat more than most people which is how this form of diagnosis works.
Exercise
For people with cystic fibrosis, exercise is extremely important as it can help loosen up mucus in the lungs which makes it easier to breathe.
