Educate

Pompe Warrior Foundation wants to educate patients and families about all aspects of Pompe Disease. We were once scared parents ourselves, with a young son and a frightening diagnosis. To make matters worse, all the information we could find about Pompe Disease was either out dated, extremely bleak, or too complex to understand without a medical degree. So in an effort to prevent other families from going through the same thing, we have provided the information below that will help you and your loved ones better understand this rare disease. From what causes Pompe Disease, how diet may affect it, and finally, current and future therapies to treat it, we hope the videos and information below will help you make more informed decisions about your child’s care. Additionally, we have provided interviews with physicians and leading researchers in the area of Pompe Disease, some of whom are a part of our own medical team. Your donations may fund research done by these experts to explore new treatments of Pompe Disease and other rare diseases, including dietary changes.

Dr. Patterson, Chair of child and Adolescent Neurology at the Mayo Clinic

Susan Eckert, RD,LD from the Mayo Clinic

What is Pompe Disease?

Pompe Disease is unique among genetic metabolism disorders as it is classified as both a Glycogen Storage Disease AND a Lysosomal Storage Disease. Glycogen Storage Diseases are characterized by an inability to make, use or break down glycogen. (see below for further info on glucose and glycogen) Lysosomal Storage Diseases are those that have a problem with a specific structure within the body’s cells called a lysosome. Lysosomes contain digestive enzymes used to breakdown complex molecules, turning large, unusable molecules into smaller, manageable ones. For example, lysosomes provide fuel for the cells of the body by breaking down complex “food” molecules into smaller components the cells can use for energy. They can also serve as recycling and waste disposal systems, digesting unwanted debris within the cell, a process called autophagy.  Pompe Disease is due to an abnormal enzyme within the lysosome that breaks down glycogen. (making Pompe Disease a Lysosomal Storage Disease and a Glycogen Storage Disease) All the symptoms associated with Pompe Disease (heart failure, respiratory problems, muscle weakness etc.) are due to the build up of glycogen within the cells and organs of the body. Combined with an ineffective lysosome, glycogen and cellular “debris” accumulate, leading to cell and organ dysfunction.

What is glucose and glycogen, and where do they come from?

The cells in the body require fuel, and at the most basic level, that fuel is usually either one of two things: glucose or ketones. Glycogen is simply a chain of glucose molecules that the body has stored in various tissues and organs for later use.   The main source of glucose is diet, specifically carbohydrates and sugar (technically sugar is a carbohydrate, see our list below for various pseudonyms for sugar used by the food industry). The body can make it’s own glucose, a process called gluconeogenesis.  All carbohydrates from pasta or refined sugar are ultimately broken down by the body into glucose.   This glucose will either be used immediately or stored for later in the form of glycogen. There are many hormones that regulate the complex process of telling the body when to store glucose as glycogen, but the most important is insulin. Insulin is released for a variety of reasons, but the most common is an increase in the amount of circulating glucose in the blood stream.  Such as immediately after a heavy carbohydrate meal. When glucose is plentiful after a meal it is stored for later as glycogen.  This glycogen will be used when glucose is not plentiful.  In summary, a meal heavy with carbohydrates will result in an increase in circulating glucose.  Triggering an increase in insulin.  Which results in glucose being stored in the tissue as glycogen.  For most people this is not a problem.  For those that have a problem in their lysosomes disposing of that glycogen, like those with Pompe Disease and other Glycogen Storage Diseases, this process can have disastrous effects.

What are ketones, and what is a ketogenic diet?

Ketones (or ketone bodies) are another source of fuel the body can run on when glucose supplies are low. The liver makes ketones from fatty acids.  These ketones are made from fat you eat or stored fat within your body.  When glucose is low, hormones in the body tell the liver to start converting fat into ketone bodies for fuel. This process is commonly referred to as ketosis. A diet high in fat or fiber, with adequate protein and low amounts of carbohydrates produces ketones and is commonly referred to as a ketogenic diet.  The ketogenic diet helps maintain the body in a state of ketosis. Some people use the ketogenic diet as a way to burn fat or lose weight.  For those with Pompe Disease the ketogenic diet may help with the build-up of lysosomes stuck on glycogen molecules.

Why we decided to start our little Pompe Warrior on the ketogenic diet?

The one thing in common among all Glycogen Storage Diseases is a problem somewhere along the line with glycogen. In the case of Pompe Disease, that specific problem is breaking glycogen down. All the current therapies, including Enzyme Replacement Therapy (ERT), deal with trying to breakdown or get rid of glycogen that is already present in the body. But what if we were able to reduce the production and build up of glycogen in the first place? Viewed from this perspective, the ketogenic diet makes intuitive sense.  It switches the body’s fuel source to fat, and glycogen deposited in tissues and cells is minimized. We are working to limit glycogen supply which fuels son’s disease. What didn’t make sense was providing a diet rich in carbohydrates to a child whose disease is a result of carbohydrates themselves. We believe that by treating Pompe Disease from both ends, with the ketogenic diet and ERT , we can improve the standard of care for Pompe Disease.  This will hopefully help our son and other people living with Pompe Disease.  If you are interested in starting a ketogenic diet for your own little Pompe warrior, you should work closely with your doctor to make sure you are appropriately monitored. Please see our interviews above to track Leo’s progress after starting both ERT and a ketogenic diet.

Other Names Used for Sugar