If you’ve been diagnosed with a chronic health condition, you understand what it means to have a constant list of questions popping into your mind. What does it all mean? How is this going to affect your life? What can you do to ensure you receive the best treatment possible? And, if you’re suffering from an ailment that’s not as well-known, you have to become familiar with a new set of terms — such as enzyme replacement therapy — which may be the type of treatment you need if you have Pompe disease.
What is Pompe disease?
Pompe disease is a rare genetic disorder that causes glycogen buildup in the cells. Generally, your body stores glycogen as fuel. However, for it to be useful, enzymes in your body have to break it down into glucose (sugar). If you don’t have enough enzymes — called alpha-glucosidase — to break down glycogen, you end up with a glycogen buildup. High levels of it can become toxic if not used, and affect how your organs and muscles function. For a person to develop Pompe disease, both of their parents must carry the faulty gene. If only one parent has it, you’ll be a carrier, but never experience any symptoms. There are three types of Pompe disease:
1. Classic Infantile Pompe Disease
This type of Pompe disease is diagnosed in newborns. It’s typically first noticed due to heart conditions — such as an enlarged or weak heart.
2. Non-Classic Infantile Pompe Disease
This modality of the condition is typically diagnosed around one year of age. While it still affects the heart, the main issue becomes breathing difficulties.
3. Late-Onset Pompe Disease
Diagnosed anywhere between late childhood and early adulthood, it’s also known as juvenile or adult-onset Pompe disease.
Symptoms of Pompe Disease
Pompe disease is a progressive condition. Therefore, signs and symptoms will worsen as time goes by. These include:
- Failure to grow at the expected rate for a child of the same age
- Delayed motor skills
- Enlarged heart
- Irregular heartbeat
- Difficulty swallowing
- Respiratory system infections
- Muscle weakness
- Breathing difficulties
- Hearing problems
- Waddling when walking
- Abnormal curvature of the spine
Enzyme Replacement Therapy for Pompe Disease
Enzyme replacement therapy (ERT) is the only effective form of treatment for Pompe disease. It consists of injecting alpha-glucosidase directly into your bloodstream. As a result, your body breaks down glycogen stores and prevents toxic buildups in your cells. It alleviates symptoms and slows down the progression of the disease. Once a patient is diagnosed with Pompe disease — in order to keep glycogen buildups to continue to occur — they will have to continue receiving enzyme replacement therapy for the rest of their lives.
Are there any side effects of enzyme replacement therapy for Pompe disease?
As with any medication, enzyme replacement therapy may have side effects. These include irritation at the site where the IV is inserted, electrolyte imbalance, fever, or an allergic reaction. Additional symptoms may include headaches, tremors, chest tightness, nausea, and/or vomiting. The best way of preventing side effects is to have an experienced healthcare professional monitoring each infusion treatment — which you will always have at Infusion Associates.
What to Expect from Enzyme Replacement Therapy for Pompe Disease
When you visit one of our facilities, you’ll meet with a healthcare professional who will explain the details of the infusion therapy. This includes duration, dosage, and possible side effects. You’ll also get a chance to ask questions and address any of your concerns regarding treatment.
You will then receive your treatment in an atmosphere designed to be as welcoming and comfortable as possible. This includes having reclining chairs, blankets, televisions, Wi-Fi, coffee, teas, and hot cocoa. If you’d prefer, you can bring your own snacks and drinks.
If Your Doctor Has Recommended Enzyme Replacement Therapy, Let Infusion Associates Help You
At Infusion Associates, we provide medically-prescribed infusion therapy for patients with chronic conditions in a welcoming and friendly environment. Our team of healthcare professionals is committed to making the experience as comfortable as possible. We always inform patients of any potential side effects and answer all their questions before starting treatment. In addition, we have a Registered Pharmacist on staff to make the process as seamless as possible.