What is PKD?
Then your red blood cells are sick. Red blood cells bring the oxygen that you breathe to all the cells in your body. Your whole body is made up of very tiny cells. They all need oxygen.
Red blood cell are very, very small disk with a dent in it. You have very, very many red blood cells in your blood. They are so tiny that there are thousands of them in the smallest droplet you can see!
You can only see red blood cells under a microscope, which is a very strong magnifying glass. This is how they look like:
The red colour of blood comes from the red blood cells. There are also other blood cells floating around. Furthermore, there is a lot of water in blood. About half of your blood is water with things in it like sugar, salt and other stuff that your body needs.
Pyruvate kinase is a substance in all your body cells. They usually call it PK. The PK in your red blood cells does not work well for you. This makes your red blood cells sick. Your body removes these sick red blood cells. If that goes too fast, your body cannot make new cells quickly enough. Then you have too few red blood cells. They call that anaemia. Your blood is therefore lighter in color.
If you have anaemia, you feel tired quickly and you cannot run and play so long as you would want. When playing outside, your muscles need a lot of oxygen. But your blood cannot bring enough oxygen to your muscles because you have not enough red blood cells. If your tiredness becomes too bad, your doctor may let you get a blood transfusion.
What is a blood transfusion?
With a blood transfusion you get extra blood from a bag. This goes with an 'infusion' directly to your own blood vessels. Blood vessels are 'tubes' in your body through which the blood flows. An infusion consists of a needle containing a very small plastic tube. The needle is pricked in your arm. For example, in your hand, your elbow or your forearm. The plastic tube then enters a blood vessel. The bag of blood is attached to the infusion, and so the extra blood can flow into your body through the tube.
The blood you receive comes from a 'donor'. This is a healthy adult man or woman who has given a bit of his / her own blood to help sick people. If someone gives blood, it is only allowed if he or she is very healthy.
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You need blood very much to live and grow. But there is a lot of iron in blood. This iron brings the oxygen to your body cells. If you get a lot of blood transfusions, there will also be a lot of iron in your body. Too much iron is not good. They say that your body is going to store iron; as if the iron is stored in piles in your body. They call it iron overload.
If the iron overload gets too bad, you can get all kinds of nasty complaints. Fortunately there are medicines that can take that iron out of your body. That is called deferrisation, or just de-iron. It is very important that you start as early as possible.
Even if you never get a blood transfusion, you are still going to store iron. That is because in anaemia you body takes more iron out of your food than normal. These patients also often have to de-iron.
Your doctor must ensure that you get enough blood to grow and learn and play. But your doctor should not give more blood than is necessary, because then you have to de-iron so much. Your doctor must therefore pay attention.
Can PKD be cured?
PKD is very difficult to cure. Most times it is not possible to cure it. Nowadays, the only way to really cure is to replace the stem cells in your bone marrow. This is called a stem cell transplant or bone marrow transplant. That's like this:
Blood cells are made in your bone marrow all your life. That is in the inside of your bones. In that bone marrow are cells called stem cells. Just as with twigs and leaves on a tree trunk, new red blood cells grow from each stem cell. Your stem cells make wrong red blood cells. In bone marrow transplantation, they replace your stem cells with stem cells from someone who is healthy and looks a lot like you. That is often a brother or a sister.
A stem cell transplant is not always successful. That's why you only get one if you have a lot of complaints and have to get a lot of blood transfusions. If the treatment succeeds, you can continue to live without blood transfusions.
What can you do about it yourself?
Healthy eating and healthy living are important. Then you have the least chance of infections and other complications. You should never forget to take your medication on time to de-iron. And in case of complaints: immediately pull the bell.
Can you have children later?
That is possible but there is a small chance that your child or one of your grandchildren will also get PKD. That is why you should always discuss this with a doctor and have it examined. If you want to know more about the chance that your children will also have PKD, ask your doctor for a reference to a heredity centre.
Your rights if you are sick
If you are ill and not yet eighteen, you may not always make your own choices about your treatment. It may then occur that you are not in line with your parents and therapists. Of course you have something to say about your treatment, but what exactly is that?
Read the article (in Dutch!) by Eline Kruithof published in the magazine Lef of December 2017.
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