Does your baby have multiple diseases at the same time? Let's talk about DiGeorge Syndrome

Does your little one have more than one health problem? Maybe you've noticed a heart problem, frequent illnesses, or developmental delays. Many of these seemingly unrelated problems can have a single cause. That's one genetic condition we're going to talk about today. It's called DiGeorge Syndrome.

Simply put, what is DiGeorge Syndrome?

This is a genetic disease . Our bodies are made up of cells. Each cell has something called chromosomes. Think of these as big books that write down how everything in our body is made. So, this condition occurs when a tiny piece, like a page, of this book called chromosome 22 is missing. To be precise, this is also called 22q11.2 deletion syndrome . That means that the part called 11.2 on the long arm called 'q' of chromosome 22 is missing.

When this small piece of gene is missing, it affects the growth and function of several parts of the child's body. Some children are affected very little, while others may be affected a little more. It varies from child to child. Although there is no complete cure for this, we can control the symptoms and help the child live a good life.

What are the symptoms seen in this condition?

Not all children with this condition are the same. Some children may not show any symptoms at all. Others may show symptoms that affect several parts of the body. Let's take a look at the main problems that are seen.

Why does this happen to a child? What is the reason?

As we discussed earlier, this is caused by the loss of a small piece of chromosome 22. There are two main reasons why this happens.

1. Random event: This is the most common (9 out of 10) . When a child is conceived, that is, the first time the mother's egg and the father's sperm join, this piece of chromosome can be accidentally lost. This is something that happens randomly.

2. Inherited from parents: Very rare (about 1 in 10)A child can inherit this condition from either a mother or father who has it. It is inherited in an ``autosomal dominant`` manner. This means that even if one of the parents has the condition, the child is likely to get it.

How do doctors find this?

Sometimes, prenatal tests can provide clues about the condition. For example, it can be detected during a prenatal ultrasound or a special test such as amniocentesis.

However, most of the time, this is only diagnosed after the baby is born. When the doctor examines the baby, he may suspect this by seeing the special features on the baby's face and ears. Then, several tests are performed to confirm the suspicion.

Tests for this

• Echocardiogram: A scan to look at the function and structure of the heart.
• Blood tests: Check the calcium level in the blood, do a complete blood count (CBC) and check the white blood cell count.
• Chest X-ray: Check the size of the thymus gland.
• Kidney ultrasound
• Special tests related to immunity: For example, `Immunophenotyping` and `Flow cytometry`.
• Genetic testing: This is what specifically confirms whether a piece of chromosome 22 is missing.

How is this treated?

The genetic defect that causes this condition cannot be eliminated. However, the symptoms and problems that arise from it can be treated very successfully . This is not something that can be done by just one doctor. A team of specialists in various fields works together to treat the child.

Treatment methods vary depending on the child's symptoms.

• Antibiotics are given for frequent infections.
• If the blood calcium level is low , calcium supplements are given.
• Hearing problems are treated with ear tubes or hearing aids.
• Speech, physical and occupational therapy treats delays in speaking, walking, and other activities.
• Hormone replacement therapy is used to treat hormonal problems.
• Surgery may be required for heart problems or a cleft palate.
• Children with learning disabilities are referred to special education programs at school.

When should you take your child to a doctor?

Most of the time, the doctor will detect this condition at birth or during routine checkups during childhood. However, if you suspect that your child has any of the symptoms we've discussed, talk to your doctor right away.

As a parent, you may feel very sad and overwhelmed when you learn that your child has a genetic condition like DiGeorge Syndrome. That's normal. But remember, with the right treatment and support, these children can live active, happy lives. Barring life-threatening conditions like serious heart conditions, most children can live a normal lifespan.