Why did I get this rare disease? I've asked this question so many times. I know now there isn't an answer. My doctor and parents say it definitely isn't my fault, and it was simply a case of bad luck (so to speak). It's like that with some illnesses, they just occur even though you didn't actually do anything to get them. I don't think about it that much anymore. It's just who I am, and I usually handle it quite well.
Naturally, I want to understand exactly what goes on in my body. That's why I have already asked my doctor a ton of questions. Doctors already know a great deal about what happens when you have an autoinflammatory disease and how it affects your body.
My illness, along with a few others, belongs to a certain category of illnesses called ‘autoinflammatory diseases' (catchy name, right!?). All these different diseases have several things in common:
Let's look at times, what is the immune system and how it usually works.
The immune system is also called the defence system, because it defends against disease-causing germs. These germs are, for example, cold viruses or harmful bacteria – there many different types. When they get inside our bodies, they are attacked by the immune system. Once this happens, we'll either not get sick at all, or we will quickly get better.
The immune system consists of a very large number of small living things, called cells. Cells travel in the blood and can get to all parts of the body to “police” for invaders. These are called white blood cells. There are several types of white blood cells. Each type has a specific task. The immune system also includes various small substances that are like text messages sent among the white blood cells.
There are various blood cells in the blood. They are so small that we cannot see them with our eyes. This illustration shows a few types of blood cells and also a few disease-causing germs and a tiny messenger (a cytokine).
Some white blood cells are like guards: they fight everything that gets in their way which looks like a disease-causing germ. These white blood cells include, for example, “eating cells.” These cells simply eat the disease-causing germs (think Pac-Man™!). Doctors also call these “eating cells” phagocytes or macrophages.
This is what a phagocyte actually looks like when you look at it under a microscope.
There are still other types of white blood cells. My doctor says they fight against disease-causing germs too, but in a different way. And they also continue doing their job in a totally normal way when you have an autoinflammatory disease.
With autoinflammatory diseases, the “eating cells” sometimes work too much. More specifically, they work even though there aren't any disease-causing germs present at all. Yet the things that happen in the body are the same as when a disease-causing germ is being fought. This is then noticed as a disease flare.
Certain messenger substances (cytokines) are responsible for this “error.” These cytokines are activated constantly, because of a small change in my DNA, and they wrongly communicate to the “eating cells” and the body that it should be fighting invaders. Take a look at the picture to see what all happens then:
Messenger substances tell our immune system that we are “under attack,” although we don't have any disease-causing germs in the body.
So the body reacts as if there are germs invading from the outside even though there are not: we develop a fever, pain, and tiredness, because the immune system is working hard, and this takes a lot of energy.