Glycogen Storage Disease

Never heard of Glycogen Storage Disease (GSD)? Don’t worry, most people haven’t, even doctors and nurses. We certainly had no idea what it was until our little Penny was diagnosed with GSD1a at 5 months old. (Read our diagnosis story) So what is it you ask?

Glycogen Storage Disease 1a is a very rare genetic liver condition that affects how energy is utilized in the body. Normally after eating, our bodies are able to store excess energy in the form of glycogen and release it as glucose later when our bodies need it. With GSD1a, our kids lack the ability to do this. They can’t release glycogen/energy from their liver, making them unable to maintain safe blood glucose or blood sugar levels on their own. In fact they can’t keep their blood sugar high enough to keep themselves alive with out intervention.

Penny and Simon cannot go longer than 3 hours without treatment meaning, they can’t even sleep though the night without intervention. Missing just one treatment can cause seizure, coma, or even death.

What is the Treatment for GSD1a?

So what is this lifesaving treatment that Penny and Simon receive every 3 hours day and night?

Cornstarch… Yes Cornstarch

Our kids ingest pound and pounds of cornstarch a month, in fact together almost 50 pounds per month mixed with unsweetened almond milk or water to help maintain safe blood sugar levels. Overnight they receive their cornstarch doses through a g-tube that was surgically placed in each of their stomachs as infants. They do consume other things to help keep them healthy too, but cornstarch is what keeps them alive.

Every 3 hours we stop what we are doing, no matter where we are, to prepare and mix the next feed for Penny and Simon to drink. As you can imagine, we’re not always in the most convenient spots for this to happen, but we have been in some amazing ones along the way. I started capturing photos of Penny and Simon drinking their cornstarch real time in various places around the world, hoping to show others with GSD that they are not alone, and hopefully inspiring them to live their dreams as well. You can check it out here Cornstarch Around the World

We live by the clock having alarms set to alert and remind us of “feed” times since they must be exact. At night we set 3 alarms for each feed time, one of them being a Sonic Bomb alarm that also shakes the bed, because the stakes are so high. Missing one feed alarm can result in hospitalization or even death.

What are the Dietary Restrictions?

Because of GSD1a, Penny and Simon cannot breakdown most forms of sugar. If consumed they have no affect on blood sugar levels and long term they cause liver and kidney damage. This means they can’t have fruit, table sugar, regular milk or many of the things most people consume day to day… and yes you heard me right, they can’t have even natural sugar. Carb intake is also monitored and restricted.

What does the Future Look Like?

Although GSD1a requires constant monitoring and treatment, the future is bright! Advances in Gene Therapy, specifically with GSD1a give us hope.

Where can I Learn More?

You can learn more about GSD1a and all of the other types of GSD though the Association for Glycogen Storage Disease. All research and support for GSD is privately funded, so if you’re looking for a good cause, one that’s close to our heart, feel free to donate here.