Sharing our experience, with you.

A deeper dive into the numbers

What is GSD (Glycogen Storage Disease)?

Glucose is a large energy source for the body. It is stored by the body in the form of glycogen and released into the blood as needed with the help of special proteins called enzymes. If you have GSD, then you were born with it. When a person has GSD:

  • The liver cannot control the use of glycogen and glucose because certain enzymes are missing that control the change of sugar (glucose) into its storage form, glycogen.
  • Or the liver will transform the sugar into glycogen but it cannot control the release of glucose/sugar from glycogen when you are fasting.
  • The liver has an abnormal amount of glycogen is stored in the liver, which will cause the liver to be enlarged (medical term is hepatomegaly).
  • The person does not have enough glucose is in the blood (medical term is hypoglycemia), which can cause seizures in some occasions.
 

GSD Type-1A?

GSD Type-1A, sometimes called von Gierke's disease, is due to a missing or impaired enzyme called glucose-6-phosphatase (G6Pase), hence the body is unable to maintain normal blood sugar levels between meals, leading to low blood sugar (hypoglycemia). As a result, both children and adults with GSD type Ia will be chronically hungry, tired, and irritable unless they eat regularly—typically every 1 to 3 hours during the day and every 3 to 4 hours at night. If their blood sugar reaches a critically low level, some may experience seizures.

Please check Our Story for more information around what we’ve been experiencing and how we dealt with it from early signs, pre-diagnosis, hospital admission leading to the ongoing treatment at home.