Friday, August 17, 2012

What is Cystic Fibrosis?

Here is where I get to explain my very basic understanding of CF in layman's terms. I'll start with this quote from the Cystic Fibrosis in Australia website:

"Cystic Fibrosis (CF) is a recessive genetic condition. The gene involved in CF gives instructions for the cells to make a protein that controls the movement of salt in and out of cells.
This salt transport gene lies on chromosome 7. Everyone has two copies of chromosome 7 and therefore everyone has two copies of the salt transport gene. Scientists have called it the CFTR (Cystic Fibrosis Transmembrane Regulator) gene." (www.cysticfibrosis.org.au)

This problem with salt creates very thick mucus which clogs up a number of different organs, most notably the lungs and pancreas. The lungs are unable to clear the thick mucus, so it can build up and cause irreversible damage. It also creates a perfect breeding ground for bacteria which is why we have to be careful about keeping Victor away from infectious illness. This mucus also blocks small ducts in the pancreas, meaning that the digestive enzymes cannot reach the intestine and this is why Victor needs to take pancreatic enzymes to digest his food. Without the enzymes the nutrients cannot be absorbed by the body which leads to malnutrition and weight loss or poor weight gain (as we saw with Victor before he was diagnosed).

CF also affects the sweat, in that Victor's sweat is much saltier than everyone else's. Because he loses more salt than usual he takes a salt supplement, which is a liquid. This salty sweat forms the basis of the sweat test, which is the standard way to diagnose CF.

Cystic fibrosis affects basically every part of the body that makes mucus. But the good thing is that there are lots of things that are unaffected by CF. It does not affect the brain, nervous system, kidneys, muscles, heart, blood or immune system.

The only way to get cystic fibrosis is to be born with it. As previously mentioned, everyone has two copies of the CFTR gene. Victor has mutations on both copies of that gene, which gives him cystic fibrosis. (Victor has two copies of the same gene mutation, called ΔF508. It can also be written as DF508 or F508del-CFTR. This is the most common gene mutation causing cystic fibrosis).

To have a child with cystic fibrosis, both parents need to be carriers. That means that Phil and I both have one normal gene and one gene with mutations. But because CF is recessive, the healthy gene essentially just does the job for the damaged one, so carriers are completely healthy and have no idea that they are carriers (unless they have genetic testing done).

1 in 25 people are carriers of cystic fibrosis and it is more common among people of European decent. (Especially Western Europe). If both partners are carriers, (such as in our case), they have a 1 in 4 chance of having a child with CF. They also have a 1 in 4 chance of having a child with two healthy genes, and a 2 in 4 chance of having a child who is a carrier (with one healthy gene, who will not have cystic fibrosis). We do not know if Felix is a carrier or unaffected. The genetic counsellor told us there was not much benefit in having him tested at this point, but it is definitely something we will discuss with him when he gets older.

There is no way to 'catch' cystic fibrosis, even if Victor is coughing a lot. It is something that he will have for the rest of his life. At this point there is no cure, however treatment has improved exponentially over the years. Once it was a disease of infancy, then a childhood disease, and now people are surviving well into adulthood. Our doctor told us that the current life expectancy for children with CF is now 50 years old. I am certain that will change as he gets older and treatment becomes even more effective. There are some very interesting medications undergoing testing right now that seem to be working at a cellular level so I am keeping an eye out for developments in that area.

But what does this all mean for us? Basically it just means we have a normal kid who happens to have an inherited condition. He will have a pretty normal life: he will go to school, play after school sport, go to friends' houses, go to university, get a job, get married if he wants to. We just need to do his treatments every day (I expect they will change as he gets older or if he is sick) and he needs to always take his enzymes before he eats. We need to be careful about keeping him away from germs, because respiratory illnesses can be much more serious for him. He might have frequent hospitalizations (although hopefully not). We also need to be careful to keep his weight up within the normal range so he will have a high-calorie diet.

Cystic fibrosis does not define who he is, it's just one part of him. It's not something that he will have to announce to strangers on the street but it's also not something to be ashamed of or hide away. It's just a fact of his life and I think raising awareness is a good thing. People will ask questions anyway (especially if he's in the hospital, for example, or even just when he takes his enzymes right before eating) and I'd rather they felt comfortable coming to us to ask questions and receiving accurate information. It's also good for us to be able to talk about it as well so it goes both ways!



1 comment:

  1. WOWWWW! Talk about the strength you must have had to find that out when he was diagnosed! And the ongoing strength to make sure he is well maintained, certainly things I take for granted with my girls as none of my 3 have any medical issues which means they can be around other sick kids and barely bat an eyelid (so to speak)!

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