Journey to GSD9A Pt 2

Gideon had his first airplane and ambulance rides. We finally arrived back at Children’s Hospital Aurora and all the testing began again. And this time I knew it was gonna be for a longer stay. During our time in the emergency department, the doctor told me that they were starting over. Essentially they were throwing out a huge net and seeing what they could find in all the tests. From MRIs to bloodwork and everything in between which meant he was not allowed to eat. Once again IB (Infantile Botulism) was on the table of possibilities. He was a mystery and for a few hours we spent time in the ED until a room was available in the PICU.

So many times I heard the phrase “Well he is showing a lot of symptoms for IB but its not really adding up”. Due to his hypotonia, the team decided to treat for IB which is a one time dose of less than 10mls and cost around $50,000. Yup. You read that right. Our few days in the PICU went by fairly quickly and more test were run. This is were we first met the metabolic team asking about doing more test and running a genetic tests to give some more clues. Yes, still we didn’t have any ideas of what was causing everything. The phrase “it just doesn’t match all the main symptoms that are typically” with all the working diagnosis that we were given.

As time went on we decided on doing a genetic test to see if this would bring about any answers that would fully make sense for a diagnosis. They also asked if I would at least do a genetic test to see if whatever came up would be something that was passed down or if its something brand new. In the midst of waiting on these test to come back, Gideon began to have some really low blood sugars and we ended up needing a NG feeding tube. As long as he stayed on the continuous feeds he did okay. When a bolus feed (normal feeding with breaks) was attempted, blood sugars would not hold steady. We tried multiple things all the while waiting on test results.

Two of the working diagnosis were: Infantile Botulism and Hyperinsulinism. We finally ended up with the results of GSD9a and that it was actually passed down from me. The version that Gideon has lives on the X-Chromosome which is why I never knew and had no symptoms. My other X-Chromosome takes over and tells my body what to do and to produce the enzyme needed to break down the stored Glycogen. Since Gideon only has a single X-Chromosome he has no other source to tell his body what to do. Finally we had answers – sort of. He was still have blood sugar issues and those answers were still a mystery. But at least we had a starting point and knew what direction to head and discharge would be happening sooner rather than later.

We still had a “long” journey to discharge but at least we were on the road to it.