It's normal to feel scared and shocked when a doctor tells you that someone in your family, especially a young child, has Pompe disease. It's a rare, genetic disease, so it's natural to be worried. But let me tell you, don't worry. While there is currently no cure for this disease, there are many effective treatments that can help patients live longer and with fewer complications.
The main treatment for Pompe disease is ERT (Enzyme Replacement Therapy).
Simply put, Pompe disease is caused by a deficiency of an enzyme that is essential for muscle cells in our bodies. When this enzyme is missing, a type of sugar called glycogen accumulates inside the cells, damaging the muscles. Think of it like there are little workers working in our bodies, and we call them enzymes. In Pompe disease, this worker doesn't work properly.
So, Enzyme Replacement Therapy (ERT) is where we give the missing enzyme, or worker, from outside the body. For this, a drug containing a synthetic enzyme called `alglucosidase alfa` is given to the body through a vein (IV infusion). This treatment is the only treatment currently approved for Pompe disease.
This ERT treatment has dramatically increased the life expectancy of Pompe patients, especially infants. In the past, it was rare for a baby with this disease to survive beyond a year.
Without ERT treatment, babies with Pompe disease gradually thicken their heart muscle, weaken other muscles in their body, and die within the first year of life. They also lose the muscles needed to breathe. After ERT treatment began, this situation changed completely. The babies who first received ERT treatment are now in their 20s.
Why is it so important to start treatment early?
This is the most important thing. ERT treatment can stop the disease from getting worse, but it cannot reverse the damage that has already been done to the muscles. This means that if treatment is delayed, you may lose the ability to breathe or walk.
Doctors try to start ERT treatment within the first few days of life , especially for babies, after diagnosing the condition. Even a slight delay can permanently prevent the baby from walking.
For people with late-onset Pompe disease, the doctor will regularly check and monitor symptoms to determine the best time to start ERT.
This is not a solo journey - support from a team of experts
Although ERT treatment can be life-saving, it is not enough. To provide the best quality of life for someone with Pompe disease, a multidisciplinary team of specialists is needed. A clinical geneticist is usually the primary person in charge of managing treatment.
See the table below for the types of specialists that may be needed for this and the type of support they will provide.
| Specialist doctor/therapist | What help do they get? |
|---|---|
| Cardiologist | The effects on the heart are monitored and the necessary treatment is prescribed. |
| Pulmonologist | They will monitor breathing difficulties and provide ventilators if necessary. |
| Gastroenterologist | Treats swallowing and digestive system problems. |
| Nutritionist | Provide the necessary nutrition for good growth, and if necessary, special diets or feeding through a feeding tube are recommended. |
| Physical Therapist | Exercises and treatments are provided to strengthen muscles and reduce weakness. |
| Occupational Therapist | Helping them to perform daily tasks (such as dressing, eating, etc.) independently. If necessary, they are taught to use assistive devices such as canes. |
| Speech Therapist | Helps overcome speech difficulties caused by weakness of the facial and tongue muscles. |
Other treatments besides ERT
Drugs that affect the immune system
Some babies' bodies recognize this externally administered enzyme therapy (ERT) as 'foreign' and start making antibodies against it. This is called a `CRIM-negative` condition. If this happens, the ERT treatment will not work properly.
To prevent this, doctors start an immune tolerance induction (ITI) treatment . In this, along with ERT treatment, several drugs are given that control the immune system.
- Rituximab
- Methotrexate
- Intravenous immunoglobulin (IVIG)
What these drugs do is "trick" the immune system into thinking that ERT is something that belongs to the body. Then the body doesn't fight against ERT.
Physical therapy and occupational therapy
Because muscle weakness is a major feature of Pompe disease, physical therapy is essential. It can help strengthen muscles and maintain body function. Occupational therapy can also help develop the skills needed to perform daily tasks independently.
Speech and nutrition therapy
Because the muscles needed to chew and swallow food may be weak, a speech therapist can help with swallowing exercises. Also, a feeding tube may sometimes be needed to provide the baby with the necessary nutrition. A nutritionist can provide the necessary guidance for this.
Your role is also very important.
When living with Pompe disease, your contribution as a patient or parent is very important.
"The most important thing I did was learn about Pompe disease. It gave me a lot of confidence and comfort in living with it every day," says Ryan Colburn, who has the disease.
Therefore, you should work with your doctor to understand your needs and take the lead in getting the best treatment. Never be afraid to ask your doctor any questions you have about this disease or treatment.
Take-Home Message
- Although Pompe disease cannot be completely cured, today's treatments can help patients live longer and better lives.
- The main treatment is enzyme replacement therapy (ERT). This is a life-saving treatment.
- It is very important to start treatment as soon as possible, because muscle damage cannot be reversed.
- In addition to ERT, support from various specialists such as physical therapy, nutrition, and speech therapy is essential.
- As a patient or parent, you can achieve the best results by being well-informed about the disease and working closely with your doctor.
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