Does your baby have these symptoms? Let's learn about Williams Syndrome

As a mother or father, our biggest dream is to have a healthy child. But sometimes our children can come into this world with some very rare health conditions. Does your little one look much younger than his age? Does his face have a different, special look than other children? And is he very sociable, smiling and talking to everyone he sees? These can sometimes be signs of a rare genetic condition called "Williams Syndrome". Don't worry, we will talk about this clearly and simply.

Simply put, what is Williams Syndrome?

Williams syndrome, sometimes called Williams-Beuren syndrome, is a rare genetic condition. Simply put, chromosomes, which are inside the cells of our bodies, determine everything from our height to our color and appearance. They are like the instruction manual that builds our bodies. A child with Williams syndrome has a small piece of chromosome 7 missing. It's like a few pages missing from the instruction manual. This missing piece of the gene causes the symptoms associated with the condition.

This condition can affect a child's growth, learning ability, heart function, and appearance. It can also cause some hormonal problems, such as high blood calcium levels, underactive thyroid, and early puberty.

How does this condition occur? Who gets this ?

In most cases, this is not something that is inherited from the mother or father. It is a spontaneous mutation that occurs at the time of conception, causing the loss of a part of the 7th chromosome. Therefore, neither the mother nor the father can be blamed for this. This is not something that anyone can prevent.

However, if a person with Williams syndrome has a child, there is a 50% chance that the child will inherit the condition.

This is a very rare condition. According to statistics in countries like America, only one in 10,000 children born have this condition. There are children with this condition in Sri Lanka too, but it is very rare.

How does this condition affect my child?

Raising a child with Williams Syndrome can be a challenge, but with early identification and the necessary treatment and support, they too can reach their full potential.

Just think, because these children have loose joints, they start sitting and walking a little later than other children. They may also have some birth defects in their hearts or blood vessels related to the heart. Sometimes this may require surgery. Therefore, regular medical examinations are necessary.

One of the most amazing things about these children is that they have very high speaking and communication skills. They speak beautifully and are very sociable. But because of this talent, we sometimes miss their learning weaknesses, for example, difficulty learning numbers and letters. They have a little difficulty understanding the difference between one thing and another (spatial reasoning).

What are the common symptoms?

Not all children with Williams syndrome are the same. Some may have more symptoms, some may have fewer. Let's break these symptoms down.

Things to be especially careful about: Heart disease

The most serious problem seen in this condition is heart disease. In particular, narrowing (stenosis) of the main blood vessels connected to the heart and the vessels that carry blood to the lungs can be seen. This can lead to high blood pressure, irregular heartbeat (arrhythmia), and sometimes even cardiac failure. Often, the first suspicion that a child has Williams syndrome is because of this heart problem.

How do doctors diagnose this condition?

This condition is usually diagnosed in infancy or early childhood. If your doctor is suspicious about your child's appearance and symptoms, he or she will first examine the child carefully.

Then, a special genetic test is done to confirm this condition. This is like a regular blood test. This can check exactly whether that part of chromosome 7 I mentioned earlier is missing.

In addition, several other tests can be done to confirm the child's other symptoms:

• To check the heart: ECG or Echocardiogram (an ultrasound scan of the heart)
• Blood pressure measurement: Check to see if your blood pressure is abnormally high.
• Blood and urine tests: Check kidney function and blood calcium levels.

How is it treated? Can this be cured?

Williams Syndrome is not a completely curable disease. Because it is caused by a genetic mutation. However, the symptoms and complications caused by it can be very well managed. That means we can do everything we can to help the child live a normal, happy life.

The treatment plan will vary from child to child, depending on the child's symptoms.

• Visiting a cardiologist: If there is a heart problem, he will decide what treatment (possibly medication or surgery) is needed.
• Early Intervention Programs: It is very important to refer children to things like speech therapy and physiotherapy to prevent developmental delays.
• Special Education: If there are learning disabilities, a child needs an educational system that is tailored to their needs.
• Other specialists: If your blood calcium levels are high, you may need to see a nephrologist or nutritionist. You may also need to seek the help of specialists for dental, eye, and ear problems.

What do I need to know as a parent?

It's normal to feel sad and scared when you receive a diagnosis like this. But the most important thing is to give your child your best love, care, and support.

• See your doctor on time: It is important to monitor your child's health regularly, especially for heart-related problems.
• Be patient: Your child learns everything at his own pace. Work with him patiently and lovingly. Appreciate even his small achievements.
• You are not alone: ​​Talk to other parents who have children like this. Their experiences will be a great source of strength for you. Also, talk openly with your doctor about your questions and concerns.

Most people with Williams syndrome have a normal lifespan. However, serious heart complications can sometimes shorten their lifespan. They may need some level of support as they grow older.

When should you see a doctor?

If your child has the following symptoms, it is very important to see a pediatrician for advice.

When should you go to the Emergency Treatment Unit (ETU)?

If the child shows any of the following signs of a heart condition, immediately take him to the Emergency Department (ETU) of the nearest hospital.

• Blue/purple discoloration of the skin or lips .
• Rapid breathing or difficulty breathing.
• Having extreme difficulty eating.
• Heart rate is very fast.
• Swelling of the body, especially the face and limbs .

This condition is not contagious, but the loving, sociable nature of these children is truly "contagious." They bring joy to everyone around them. Dealing with a new diagnosis can be difficult, so always offer your child your support.