Does your child have these special characteristics? Let's talk about Williams Syndrome

Is your little one very sociable? Does he smile and talk to everyone he meets, and is surprisingly friendly? Perhaps you have noticed that he has a slightly special, different facial appearance from other children. If, along with these things, there are also slight developmental delays and heart problems in the child, we are talking about a rare genetic condition that could be the cause. Don't be scared after reading this. This information will help you gain a better understanding of this.

What is Williams Syndrome?

Simply put, Williams Syndrome (WS) is a rare genetic condition . It is caused by a very small change in our genes. A child with this condition may have problems with various parts of the body, especially organs such as blood vessels, heart and kidneys. They also have unique facial features, learning disabilities and unique personality traits.

The difference between Down Syndrome and Williams Syndrome

Both are genetic conditions. Both can cause problems with the heart and nervous system. But the causes of the two are different. Down syndrome is caused by an extra copy of something called a chromosome in our body's cells. Williams syndrome is caused by the loss of a small part of a chromosome .

What causes Williams syndrome?

Think of our body as a big instruction book. The pages of this book are called chromosomes. There are 46 such pages (23 pairs) in each of our cells. It is on the seventh page of this book (Chromosome 7) that a significant amount of the instructions for building our body are written.

A baby with Williams syndrome is born without a small section of this seventh page, which contains about 25 or 27 genes. It's like a small piece of a page in an instruction book has been torn out. The symptoms the child shows depend on which of those missing genes are present. For example, if the gene called `ELN` is missing, it can cause problems with the heart and blood vessels.

This is not the fault of the mother or father. Most of the time, it is caused by a random change in the development of a sperm or egg. That is, it is completely random . Very rarely, if one of the parents has this condition, the child can also inherit it.

How common is this?

This is a very rare condition. It usually affects about one in 7,500 to 10,000 people.

What are these symptoms?

Not all children with Williams syndrome are the same. Some may have a few symptoms, while others may have many. And their severity can vary. Let's take a look at the main symptoms.

Learning differences

About 75% of children with Williams syndrome may have mild intellectual disability. This can lead to learning difficulties. On the other hand, these children have amazing memories . They may also have language and speech skills, reading skills, and especially great talent for music .

How is the diagnosis made?

Your doctor will first examine your child, ask about their family medical history, and pay attention to any special features on their face.

If Williams syndrome is suspected, a blood test may be ordered to confirm it. There are two main methods for this:

1. FISH test (Fluorescence in situ hybridization): This test directly looks for the missing gene `ELN` on chromosome 7. Most people with Williams syndrome do not have this gene.

2. Chromosome microarray: This is a more modern and commonly used test. It looks at all of the baby's chromosomes and sees if any part of the DNA is missing. It can also pinpoint which genes are missing, giving the doctor a better idea of ​​the symptoms the baby may have.

In addition, further tests may be ordered to determine the internal condition of the child's body.

• EKG or Ultrasound scan tests for heart problems.
• Ultrasound scan to check the condition of the kidneys and bladder.
• Checking calcium levels in the blood or urine.

How is it treated?

As we mentioned earlier, this condition cannot be completely cured. However, treatment can help manage the symptoms and help the child live a good life. This requires the help of various specialists.

• Cardiologist: For heart problems.
• Endocrinologist: For problems related to hormones and calcium levels.
• Ear, Nose and Throat Specialist (ENT Surgeon): For ear infections.
• Physical therapist: To improve body movement and muscle strength.
• Speech and language therapist: To improve speech and language skills.

Treatment may include a diet that lowers blood calcium levels, blood pressure medication, special education programs, and, if necessary, vascular or heart surgery. All of this is determined by your doctor .

What can you do as a parent?

It's normal to feel overwhelmed when you find out your child has Williams syndrome. But these facts will help you.

• Give your child lots of love: let them explore the world according to their abilities and pace.
• Maintain regular contact with doctors: Regularly undergo medical checkups to monitor your child's health.
• Seek additional support at school: Talk to the school's teachers and principal about special plans needed for your child's education.
• Get informed: Learn as much as you can about this situation so you can advocate for your child properly.
• Connect with others: Talk to other parents who have children like this. Ask your doctor about support groups.
• Think about yourself too: Take care of your mental and physical health while taking care of your baby. If you are feeling tired, don't hesitate to ask for help.