What is Sanfilippo Syndrome? As parents, let's be aware.

Have you noticed any developmental delays or unusual behaviors in your child lately? Sometimes we think of these as normal things that happen to children as they grow up, but they could be early signs of a rare condition called Sanfilippo Syndrome. Don't be alarmed by the name. It's a very rare condition. But it's important for parents to be aware of it. So, let's talk about it clearly and simply.

What exactly is Sanfilippo Syndrome?

Simply put, this is a rare genetic disease that affects a child's metabolism and brain development. It is also called mucopolysaccharidosis type III.

Think of our body as a big factory. For this factory to work properly, some things need to be broken down, broken down, cleaned up, and removed. The little workers that help with this work are called enzymes . A child with Sanfilippo syndrome lacks one of these essential enzymes.

Without this enzyme, a naturally occurring sugar molecule called heparan sulfate is not properly broken down and eliminated from the body. Instead, it starts to accumulate inside the body's cells. It's like the garbage in a factory that doesn't get cleaned up. This accumulated material is stored in compartments inside cells called lysosomes . That's why this disease is also called a lysosomal storage disease .

When this waste builds up, cells can't function properly. Over time, this can damage organs, stunt growth, cause behavioral problems, and severely damage the nervous system.

This disease is very rare. It affects about one in 70,000 births. The average life expectancy of children with this disease is between 10 and 20 years. However, if someone in the family has had this disease before, the risk of the child developing it is higher.

Are there different types of this disease?

Yes, there are four main types of this disease. There are four types of enzymes that help break down the heparan sulfate that we talked about earlier. So, the type of disease is determined by which of these four types of enzymes is deficient . Some types may be less severe than others.

What are the symptoms of this disease?

Early symptoms usually begin to appear between birth and 2 years of age. However, sometimes parents may not recognize them, or even doctors may mistake them for other conditions (e.g. autism).

Special appearance of eyebrows

Parents may notice facial changes in children with this condition, especially when they are with siblings. Thicker, larger eyebrows than normal.A special feature of this disease is that sometimes these two eyelashes are joined together, making them look like a single eyebrow across the forehead. This feature becomes more pronounced as the child grows.

How to diagnose the disease?

Because it is a rare disease and the early symptoms are similar to other diseases, doctors often don't test for it in its early stages. But it is very important to diagnose the disease as early as possible so that the child can get the support and treatment they need.

If your child has a developmental delay, birth defects, and some of the early symptoms we discussed, your doctor may refer you for genetic or metabolic testing.

• Urine test: The first test to be done is a urine test. If the level of heparan sulfate in the child's urine is elevated, it is a sign that Sanfilippo syndrome may be present.
• Blood test: A blood test is done to confirm the disease. This checks to see if the activity of the relevant enzyme is low.

What are the treatments?

Unfortunately, there is no cure for Sanfilippo syndrome, so the main goal of doctors is to provide supportive care . That is, to control the symptoms and give the child the best possible quality of life for as long as possible.

Various treatments and therapies are used for this:

• Speech-language therapy: Speech delay is a common symptom. A speech therapist helps the child communicate with words and cues (e.g., picture cards).
• Feeding therapy: As the disease progresses, chewing and swallowing become difficult. A feeding therapist will develop a method to help the child eat safely.
• Physical therapy: This therapy helps the child walk for as long as possible, stay strong, and maintain balance. If necessary, it can also help them get equipment like a wheelchair.
• Occupational therapy: This therapy helps maintain fine motor skills, such as getting dressed and holding toys, for as long as possible.

In addition, there are experimental treatments in the world, such as Enzyme Replacement Therapy (ERT) and Gene Therapy.

You, the one taking care of the child, should also think about yourself.

Taking care of a child with such a rare condition is a big responsibility. And it's a big sacrifice. It's very normal for you to feel overwhelmed, stressed, sad, and angry during this journey.

So, don't forget to think about yourself as well as your child.

• Ask for help from someone you trust.
• Make time for yourself to take a little break.
• Talk about your feelings with your family or your doctor. If necessary, seek the help of a mental health counselor.

Remember that to give your child the best, you first need to be well .