Being diagnosed with any chronic disease is scary, disheartening, and comes with a lot of uncertainty. You wonder how this will change your life — and how it will impact the lives of your loved ones. Will you be in constant pain? Will the treatment be a hassle? Will you be able to have a sense of normalcy? These are probably some of the questions going through your mind if you’ve been diagnosed with glycogen storage disease (GSD). What, exactly, does it mean? And, how can infusion therapy help you?
What is glycogen storage disease (GSD)?
In healthy individuals, the liver stores glycogen as fuel — in fact, the body uses it as its main source of energy. For it to be utilized as such, enzymes break it down into glucose (sugar). Glycogen storage disease is a rare hereditary condition in which a person does not have the enzymes — called alpha-glucosidase and debranching enzymes — necessary to break down glycogen. As a result, you end up with a buildup. This is a problem since high levels of glycogen can become toxic and affect how your organs and muscles function.
There are different types of glycogen storage disease:
1. Gierke Disease
This is the most common type of GSD. It occurs when the person doesn’t have the enzyme that turns glycogen into glucose. It’s most often diagnosed in babies around three or four months of age. Typical signs include a swollen belly — due to an enlarged liver — and hypoglycemia.
2. Cori of Forbes Disease
This type of GSD occurs when the person doesn’t have enough debranching enzymes. Since glycogen remains only partially broken down, it collects in the liver and muscles. Symptoms include muscle weakness, swelling in the abdomen, and delayed growth in children.
3. Andersen Disease
This variety of GSD causes individuals to form abnormal glycogen. As a result, the body’s immune system is triggered, fighting its own tissues and creating scarring in the liver, muscles, and heart.
Enzyme Replacement Therapy for Glycogen Storage Disease
Enzyme Replacement Therapy (ERT) is the only effective treatment for glycogen storage disease. The process consists of injecting alpha-glucosidase and debranching enzymes directly into the bloodstream. As a result, your body is able to break down glycogen — thus preventing toxic buildups in the liver. It also provides relief from symptoms, as well as slows down the progression of GSD.
Side Effects of Enzyme Replacement Therapy for Glycogen Storage Disease
As with any prescription medication, there’s always a risk of side effects, even with enzyme replacement therapy. Specifically for GSD, these include headaches, nausea, vomiting, or infection at the site where the IV is inserted. It’s also possible for the IV to become dislodged from your arm. The best way to lower these risks is to have a healthcare professional monitor the infusion — which you’ll always have at Infusion Associates.
What to Expect from Enzyme Replacement Therapy for Glycogen Storage Disease
When you visit one of our treatment centers, you’ll meet with an experienced healthcare professional who will walk you through the entire process of your treatment. This includes discussing frequency, dosage, and possible side effects. This is also a good time for you to ask questions and address any concerns you may have.
From the moment you enter, you’ll notice how, at Infusion Associates, we make it a priority to make you feel as welcome and comfortable as possible. You’ll receive your infusion treatments from cozy reclining chairs, and have several amenities to make the experience feel almost like being at home — including blankets, televisions, WiFi, hot cocoa, coffee, and teas. You can also bring your own snacks and drinks of choice.
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.