Does your child or you have unexplained muscle weakness? Let's talk about Pompe Disease.

You may have noticed that your little one seems a little more lethargic than other children, has difficulty holding his neck straight, or is gaining weight very slowly. Or, as an adult, do you feel unusually tired and dizzy when climbing stairs or walking short distances? The reason behind these may be a rare condition that you have never heard of. That is exactly what we are talking about today.

Simply put, what is Pompe Disease?

Think of our body as a big factory. This factory needs different workers (proteins/ enzymes ) to work. Pompe disease occurs when one of the workers (a specific protein) that breaks down glycogen , a type of sugar in our body, and produces energy is missing or not working properly.

Now that this worker is gone, instead of being converted into energy, that type of sugar called glycogen starts to accumulate inside our body's cells, especially in places like muscles, the heart , and the liver . It's like raw materials piling up in a factory. This accumulation of glycogen damages those organs and weakens their function.

This disease is also known as `GAA deficiency` or `type II glycogen storage disease ( GSD )`.

What causes this disease?

Pompe disease is a genetic disease . This means that we inherit it from our parents. However, to develop the disease, you must receive the defective gene for the disease from both your mother and father .

If a person inherits just one defective gene, they will not show symptoms of the disease. But they will be a carrier of the disease. This means that they can pass on the defective gene to their children.

What are the symptoms of this disease?

The symptoms of this disease, the age of onset, and the severity of the disease can vary greatly from person to person. It can be divided into two main categories.

How to accurately diagnose the disease?

Because these symptoms are often similar to those of other conditions, diagnosis can be a bit complicated. Your doctor may ask questions like these to help you understand the situation:

• Do you feel weak, frequently fall, or have difficulty walking, running, or climbing stairs?
• Do you have difficulty breathing, especially at night or when lying down?
• Do you have a headache when you wake up in the morning?
• Do you feel extremely tired throughout the day?
• Has anyone in your family had these symptoms?

In addition to these questions, some tests may also be done to rule out other medical conditions. If Pompe disease is suspected, these tests are done to confirm the diagnosis:

• A blood test: This checks how well the deficient protein (enzyme) is working.
• Muscle Biopsy: A small piece of muscle is taken and examined under a microscope to see how much glycogen is stored in it.
• Genetic Test: This directly checks for the presence of a genetic defect that causes the disease.

What are the treatments?

Although there is currently no cure for this disease, there are very effective treatments that can control symptoms and prolong life. It is extremely important to start treatment as early as possible , especially for infants.

The main treatment is Enzyme Replacement Therapy (ERT) . Simply put, this involves giving the body an enzyme (protein) that is missing or deficient in the body through an injection. Once this injection is received, the body is able to break down the sugar glycogen. Some of the drugs used for this are:

• `Myozyme` (often for babies)
• `Lumizyme`
• `Nexviazyme` (for the late-onset type)

In addition, there is a new treatment approved for adults who do not respond well to ERT treatment. It uses a combination of two drugs taken as an injection (`Pombiliti`) and capsules (`Opfolda`).

Things to consider when living with this disease

Living with Pompe disease can be challenging, so it's important to get support for yourself and your family. You can also join support groups where other people with the disease can share experiences and get practical advice.

For example, if food is difficult to swallow, thickeners can be added to the food. Some people may need to be given food through a feeding tube to get the nutrition they need.

Because this disease affects many parts of the body, you need the support of a team of specialist doctors.

• Cardiologist
• Neurologist
• Respiratory Therapist
• Nutritionist

It is with everyone's support that we can manage the symptoms and stay well.