Is your baby not breathing? Could it be Pompe Disease?

Does your little one feel limp and lethargic? Does he just sit there, not moving like other babies his age? Or is it hard for a little older child to walk, run, or jump? It's normal for a mother or father to feel very scared when they see something like this. But these things are not always normal. Today we are talking about a rare condition that causes muscle weakness, but is not very well known in our country. That is Pompe Disease.

Simply put, what is Pompe Disease?

Pompe disease is a genetic disease that causes the accumulation of a complex sugar called glycogen inside our body's cells. It belongs to a group of diseases called glycogen storage diseases.

Okay, now let's understand this a little more simply. Our body has an enzyme called acid alpha-glucosidase , or GAA for short. The main function of this enzyme is to break down the complex sugar called glycogen that I mentioned earlier and turn it into a simple sugar, glucose, which helps our body produce the energy it needs.

In a person with Pompe disease, the body does not produce this GAA enzyme, or it produces very little. So what happens then? Since there is no way to break down glycogen, it slowly starts to accumulate inside our cells.

Inside our cells are small organelles called lysosomes . These are the ones that act like garbage recycling centers. The GAA enzyme is supposed to work inside these lysosomes. When the enzyme is missing, glycogen accumulates inside these lysosomes, damaging them and eventually damaging the entire cell. This damage most often affects our heart muscles and skeletal muscles. This is why symptoms such as muscle weakness appear.

This disease is known by other names:

• Acid maltase deficiency
• Glycogen storage disease type II (GSD2)

What are the main types of this disease?

Pompe disease can be divided into two main types, based on the age of onset and the severity of symptoms. To help you understand the difference between the two types, let's look at this table .

What are the possible symptoms of Pompe disease?

Symptoms vary depending on the type of disease.

Infantile-onset symptoms

In this type, the baby may not show any symptoms at birth, but these symptoms begin to appear within a few months.

• Hypotonia: This is the main symptom. The baby's body becomes limp and feels like a rag doll. It is difficult to hold the head up or roll over.
• Cardiomegaly: The heart becomes enlarged due to the accumulation of glycogen in the heart muscle.
• Enlarged liver (Hepatomegaly)
• Enlarged tongue (Macroglossia)
• Weight gain and growth problems: The baby is not gaining weight and is stunted.
• Difficulty breathing: Weakening of the chest muscles makes it difficult to breathe.
• Difficulty eating and drinking: Difficulty sucking and swallowing, which can cause problems with things like drinking milk.
• Frequent respiratory infections (cough, cold).
• Hearing impairment.

Late-onset symptoms

These types of symptoms are mild and develop slowly, but they can become serious over time.

• Gradual weakening of the muscles of the legs and trunk.
• Difficulty walking and frequent falls.
• Muscle pain over a large area.
• Inability to exercise.
• Frequent respiratory infections.
• Difficulty breathing when tired (Dyspnea).
• Morning headaches: This may be a symptom of irregular breathing at night.
• Excessive fatigue and sleepiness during the day.
• Weight loss.
• Difficulty swallowing (Dysphagia).
• Irregular heartbeat (Arrhythmia).
• Hearing impairment.

Why does this disease occur? What is the cause?

This is a disease that is caused by a completely genetic cause . There is a gene called GAA in our body. This gene is the one that instructs the production of the aforementioned GAA enzyme. Pompe disease is caused by a mutation in this GAA gene. This mutation reduces or completely stops the production of the GAA enzyme.

This disease is inherited in an 'Autosomal Recessive' pattern. What does that mean?

If both parents are carriers, there is a 25% chance that a child will have the disease, a 50% chance that the child will also be a carrier, and a 25% chance that the child will not inherit any defective genes and will be healthy.

How does a doctor diagnose this disease?

When you take your child or yourself to the doctor, the first thing they do is do a physical exam and ask about your family's medical history. Then, they run a few tests to confirm the diagnosis.

• Blood tests:
• Creatine Kinase Level Testing: This enzyme is released into the blood when muscles are damaged. If its level is elevated, it can indicate that muscles are damaged.
• GAA enzyme activity test: This is the most specific test . A blood sample is taken and the activity of the GAA enzyme is measured. If you have Pompe disease, this activity is very low.
• Genetic Testing: This test is done to confirm whether there are mutations in the GAA gene.
• Other tests:
• Pulmonary function tests: Measure the weakness of the respiratory muscles.
• Electromyography (EMG): Measure the electrical activity of muscles.
• Heart tests: Tests such as ECG and Echocardiogram check the condition of the heart.
• Sleep studies: Identify breathing problems during sleep.

What are the treatments for this?

Although Pompe disease cannot be completely cured, there are treatments that can control symptoms and improve quality of life.

The main treatment is Enzyme Replacement Therapy (ERT) , which involves genetically engineering the missing GAA enzyme and administering it intravenously through saline.

• Alglucosidase alfa
• Avalglucosidase alfa

With these medicines,

• Reduces the size of an enlarged heart.
• Restores heart function.
• Improves muscle strength and function.
• Reduces glycogen deposition in cells.

In addition to ERT treatment, it is also essential to provide the patient with supportive care . For this, a team of various specialists and therapists works together.

• Physical therapists: Provide exercises to strengthen muscles and improve movement.
• Occupational therapists: Help people perform daily tasks independently.
• Respiratory therapists: Treat breathing problems.
• Cardiologists
• Neurologists

Depending on the severity of the disease, the patient may need things like mechanical ventilation or a feeding tube .

In addition, scientists are also researching modern treatments such as gene therapy , which aims to make the body produce the GAA enzyme itself by replacing the damaged gene with a healthy one.

What can you do if you or your child has this disease?

If you have even the slightest suspicion that you or your child has these symptoms, please do not waste time and see a doctor immediately. The sooner the disease is diagnosed and treatment begins, the better the patient's quality of life can be.

Dealing with a condition like this is not easy. That's why it's important to seek help from a psychologist. Also, joining support groups with other people with similar illnesses and their families can be a great strength. The only great thing is to feel that you are not alone.

You also need rest and mental well-being to take care of your baby. Don't forget that.

Ask your doctor questions like these:

• What type of Pompe disease does my child have?
• What other specialists do we need to see?
• What can I do to make my child comfortable?
• Is it a good idea to get genetic testing done for other family members as well?
• How can I get help to stay mentally strong with this illness?

Pompe Disease Sinhala, Pompe disease, muscle weakness, glycogen storage disease, GAA enzyme, infant diseases, genetic diseases