Does your child have '22q11.2 Deletion Syndrome'? Let's talk about this simply.

Sometimes when a doctor tells us the name of a condition your child has, we feel a great deal of fear, shock, and confusion . '22q11.2 Deletion Syndrome' is one such name. Don't be afraid, even if the name sounds a little complicated. Understanding this condition in simple terms will be a great help to you and your child. Let's talk about this very simply, from the beginning.

First, let's see what these genes and chromosomes are.

Simply put, our bodies are like a big instruction book. The chapters in this book are what we call 'Chromosomes'. Normally, a human cell has 46 of these chromosomes. Each of these chromosomes contains thousands of 'genes', the information that determines all the characteristics of our body. Everything from our height to our skin color to our hair texture is determined by these genes.

'22q11.2 deletion syndrome' is a genetic condition. What happens here is that a very small part of chromosome 22, out of the 46 chromosomes we mentioned, is lost. The English word 'deletion' means 'deletion' or 'reduction'. When a part of a chromosome is lost in this way, the genes that were on that part are also lost. That is why the functioning of various parts of the body, such as the heart, immune system, and brain, can be affected.

Is this the same as 'DiGeorge Syndrome'?

Yes, you may have heard the name 'DiGeorge Syndrome'. This is actually one of the manifestations of the 22q11.2 deletion condition. In the past, before genetic testing was developed, doctors used different names for this group of symptoms, such as 'DiGeorge Syndrome'. But later, genetic testing found that the root cause of many of these conditions is the loss of part of chromosome 22. So now they are all brought under the same umbrella, '22q11.2 deletion syndrome'.

Not all children with this condition will have the same symptoms. Some children may have a few symptoms, while others may have many. It depends on the number and type of genes that are missing.

Below are some of the most common problems associated with this condition.

What caused this? Is this my fault?

When you find out that your child has this condition, one of the first questions that comes to your mind is, "How did this happen? Am I responsible for this?"

There is something you need to understand very clearly here.

Most of the time (about 90% of the time), this condition is caused by a random genetic change. That means it is not inherited. But in a minority of cases (about 10%), the child can inherit the condition from one of the parents. Sometimes, those parents may have no symptoms at all or have very mild symptoms and may not even know about it. So, if necessary, your doctor may refer you both for genetic testing.

How is it treated?

There is currently no one-size-fits-all 'cure' for this type of chromosomal disorder. Because this change is present in every cell in the body, it cannot be completely corrected. But, most importantly, there are treatments and management methods for almost all of the problems caused by this.

The treatment needs of these children are different for each child. Therefore, your doctor and a team of specialists will work together to create a treatment plan that is tailored to your child. This plan may include:

• Treatment for heart disease: If necessary, surgery to correct the heart defect.
• Physiotherapy: To strengthen and train muscles for activities such as walking and running.
• Occupational therapy: To develop fine skills such as tying shoelaces and writing.
• Speech therapy: To overcome speech difficulties. (This will need to be started after surgery to correct a cleft palate if there is one).
• Regular checkups: Regularly check the child's growth, weight, height, and hearing.
• Treatment for the immune system: If the immune system is weak, specific treatments (e.g., bone marrow transplants) or advice to prevent infections.
• Treatment for hormonal problems: If calcium levels are low, prescribing calcium and vitamin D tablets.
• Mental health support: Counseling for mental stress that may be affecting both the child and you.

Could this condition occur in another child in the family?

This is also a big problem for parents.

• If both parents do not have this gene variation , the risk of another child having this condition in the future is very low (about 1%).
• However, if one parent has this gene variation , each child born has a 50% risk of inheriting it.

If someone in your family has this condition or you suspect you have it, the best thing to do is talk to your doctor about it. Then, if necessary, the fetus can be tested for this condition during the next pregnancy. For this, tests such as `(Chorionic villus sampling)` or `(amniocentesis)` are used. But remember, although these tests can tell whether the baby has the genetic change or not, they cannot say exactly how severe the symptoms will be.

22q11.2 deletion syndrome, DiGeorge Syndrome, genetic diseases, chromosomal disorders, children's diseases, child health, congenital heart disease, immunodeficiency