Journey to a GSD9A Diagnosis

Part 1

How did we get to this diagnosis? What in the world is Glycogen Storage Disease Type 9A (GSD9A)? Join me in our story and a easy non medically jargon description. And yes this will be a multiple part story. Its a long one and on going.

What is GSD9A? First, it is a genetic disorder and for our story, it lives on the X Chromosome. Genetically speaking means if it was passed down, it came from me -Mom. In simplest terms, Gideon’s body is missing the code to tell his body how to breakdown stored glycogen in his body. Through testing, he makes less than 0.1 percent of the PhK (Phosphorylase) enzyme that is needed to breakdown that glycogen. Clear as mud?

Here is the way a doctor explained it to me one day. When a person mows a hay field, a horse can eat the fresh hay no problem. He knows how to eat and what to do. Now the horse wont eat an entire field of hay, so the farmer puts it away and bales it and it is stored in the barn for the horse. When it is time to get the stored bale of hay to use, the farmer wont throw an entire bale – twine and all – to the horse because the horse wont know what to do with it. The horse needs to broken down. And that is what Gideon’s body doesn’t know what to do. Breakdown down the “stored bale of hay” to use for fuel.

So how did we get here to where our 8 month old has this. Obvious answer, he was born with this condition but we had no idea about it until mid-February when we received that diagnosis.

Christmas 2024 we had a small flu bug or at least we thought a flu bug hit our house. Both kids had a touch of it, Acelynn had it worse than Gideon. However mid-January 2025, Gideon still wasn’t getting better. He constantly sleepy, his cry went to more of a constant whine, he wasn’t eating as much and all of sudden he was losing trunk muscle tone and before we knew it lost control of his neck.

We visited our local ER and all his vitals checked out and the only thing they found was elevated liver enzyme levels. They gave us the choice of going to Children’s to get some kind of answers or just watching / monitoring him and hoping it would get better. I was done hoping and wanted answers. I might add he had gone from the almost 40th percentile of weight to the 10th percentile of weight in a month. He wasn’t losing weight, he had stopped gaining weight.

Trip 1 to Childrens.
We went to Children’s hospital on Sunday late afternoon where test and blood work and all the things were done. We spent the night in the PICU and discovered a diagnosis of COVID with Infantile Botulism (IB) being thrown around too. For the most part, the doctors and nurses were a little puzzled as his symptoms and how he presented didn’t line up with a typical COVID diagnosis or IB diagnosis. Gideon was monitored for a 2 days and had fluids and began to perk up. So after 48 hrs, we were release and sent home with a “it will just take time to get back to base line”.

After a week and a half, base line didn’t come and my “mamas gut” said something isn’t right and we need to go back to the doctor. And so we went back to our local doctor and thats when Gideon had his first airplane ride at 5 months old.