What is CHD2?

Our bodies are made up of chemical building blocks called “genes”. CHD2 is one of these genes. It has an important job to do making a substance that your brain needs.

Your genes are copied from your mother and father when you are first developing into a baby. But when your genes are copied, sometimes they are not copied exactly. Small changes to a gene, or a piece being missing, can sometimes cause problems. If a small piece of the CHD2 gene is missing or is in the wrong place, it can cause a very serious problem. It is no-one’s fault when this happens. It is just bad luck.

We often use the term “CHD2” to mean the problem that can occur when the gene is copied badly. It should really be called a “CHD2 disorder” or a “CHD2-related disorder”, but it’s often easier just to say “CHD2”.

When someone has this CHD2 problem, they can be very seriously poorly. They will often have “seizures”, where they lose control of their body. When this happens, their arms and legs will shake for several minutes. They do not know this is happening, but they can feel very tired and ill afterwards.

They may also have lots of other smaller types of seizure. They might sometimes forget what they are doing, or their eyelids might flutter or flicker. They might suddenly fall over.

People with CHD2 can also have other problems. They might not be able to speak very well. They may find it hard at school and not be able to understand as much as other people. As they get older, they might start to behave in ways that other people find difficult. They may get angry, hitting and shouting. They cannot help this: it is just part of their CHD2 problem.

At the moment, CHD2 cannot be cured but it can often be made a bit better using medicine. In the future, we hope that new medicines will do even more, or doctors may be able to fix the gene itself and stop the seizures completely.