Living with a chronic health condition comes with a steep learning curve. You first have to take time to fully understand what ails you. You process it. Let your loved ones know. Then, you have to learn how to live with it — how to foresee flareups, take medications, find out whether it will impose limitations on your daily activities, work, and hobbies. In addition to the physical discomfort, you have to deal with the emotional impact as well. It’s a lot to take in. And, when you hear about lesser-known treatments — such as enzyme replacement therapy for lysosomal storage disorders — you may be wondering what it’s all about. What does it mean? How can it make living with your condition better?
What are lysosomal storage diseases?
Lysosomal storage diseases (LSDs) are inherited metabolic disorders that cause the build-up of toxic matter in the body as a result of enzyme deficiencies. There are several of these disorders, and they affect many parts of the body — such as the central nervous system, the skeleton, heart, skin, lungs, or brain.
Lysosomes are digestive units within the body’s cells. They break down complex components — such as proteins — to aid in digestion. When a person has a lysosomal storage disease, they don’t produce enough enzymes to complete these processes — causing the components to accumulate and store in the cells. This buildup can become toxic, resulting in symptoms such as:
- Joint stiffness
- Breathing difficulties
- Vision problems
- Hearing problems
- Swollen abdomen
- Muscle spasms
- Deterioration of mental and motor function
- Bone and/or joint deformities
- Difficulties swallowing
- Difficulties walking
- Sleep disturbances
The toxic buildup from lysosomal storage diseases can cause damage to the organs in your body. In addition, all lysosomal storage disorders are progressive — which means they’ll worsen as time goes by.
Most LSDs are the result of faulty genes inherited from both parents. If a person inherited these genes from only one parent, they won’t develop symptoms.
What is enzyme replacement therapy?
Enzymes perform millions of tasks to keep you healthy. From transporting compounds and chemicals from one part of the body to another to aiding digestion and immune responses to fight viruses, they work overtime to keep your body working optimally. Certain chronic conditions may cause enzyme deficiencies.
Enzyme replacement therapy involves infusion through an IV, designed to correct enzyme deficiencies caused by certain illnesses — collectively known as lysosomal storage diseases. These include:
- Fabry disease
- Gaucher disease
- Pompe disease
- Krabbe disease
- Metachromatic leukodystrophy (MLD)
- Mucopolysaccharidosis (MPS or Hunter Syndrome)
- Niemann-Pick disease
- Tay-Sachs disease
Each infusion therapy can take between one and two hours, depending on your specific circumstances and needs. You should talk to your doctor before scheduling an infusion appointment.
What to Expect When Undergoing Enzyme Replacement Therapy
Enzyme replacement therapy for lysosomal storage diseases is specifically designed to correct enzyme deficiencies in your body. Because the medication is inserted through an IV, it reaches your bloodstream immediately, providing faster relief. Depending on your specific condition, the treatment will help improve functional capacity — such as being able to walk — reducing the size of enlarged organs, reversing the manifestations of the disease, and preventing long-term complications. The treatment can significantly improve your quality of life. The dosage you’ll receive will vary depending on your specific condition as well as your body weight.
Before getting started, one of our healthcare professionals will sit down with you and explain the process as well as answer all your questions. If you’d prefer to have a loved one accompany you, you are welcome to bring someone along. You’ll receive treatment while sitting in reclining chairs, and you can request anything that would make the process an easier one — including using our free WiFi, noise-canceling headphones, television, blankets, and beverages. You can also bring your own snacks and drinks.
Side Effects of Enzyme Replacement Therapy
As with any medication, enzyme replacement therapy carries a minor risk of side effects. Some of these may include headaches, nausea, rigors, fever, and/or labored breathing. Other risks include infection at the site where the IV is inserted, or the IV becoming dislodged from your arm. The best way to lower the risk of any complications is to have an experienced healthcare professional monitoring the ERT throughout its entire duration. Rest assured, at Infusion Associates, you’ll always have a physician or nurse making sure everything goes smoothly.
If Your Physician 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.