Tim, Micah and I met with the new doctors that week. We now have a metabolic attending, fellow and dietitian. They thoroughly reviewed Tim and I's whole family history and Micah's medical history. They explained Glycogen Storage Disease as best as they could to us. Here is my non scientific explanation. Most peoples bodies take sugars that are ingested and turn them into glycogen which is stored and slowly released over time to give us energy and maintain our bodies during periods of fasting. Micah's body doesn't know how to use that glycogen so he is not using it for energy and the glycogen molecule is getting stuck in his liver. So when he goes a few hours with out eating, his body doesn't have the glycogen and is using other forms of energy and after a while it puts his body in a lot of distress. There are 10 different types if the disease, some with sub types. We do not know which type Micah has. The best way to figure that out is genetic testing. So we are waiting to hear results. We were told it could take months. The doctors have ruled out several of the types due to Micah's lack of symptoms. It is obvious he has a mild type because his only real symptoms are an enlarged liver and consistently elevated blood levels. However, they assured us that regardless of type, they would begin treatment the same. Knowing the type will help us figure out what to expect for the future and it will help us figure out baby #3's chances of having it, since Glycogen Storage Disease is a genetic mutation.
We met with the dietitian after the doctors. I was expecting a more extreme change in diet but I had already been doing what she said. Since he is only one year old, I already limit refined sugars. I was expecting to have to attempt to cut them out completely but she said he is still allowed a treat every now and then, which made me feel better. I was imagining he was going to be that kid at the birthday party who couldn't eat the cake or wasn't allowed to eat any halloween candy. So he can still have those things, just in moderation, which now I have an excuse to be that mom. Fruit is fine but he shouldn't really have juice. We need to try and limit carbs to complex ones, which we generally already try to do. And he needs a lot of protein in his diet. He already drinks half of his protein intake in milk, so we just do a lot of yogurt, cheese and peanut butter, since he is not a fan of meat yet. The big thing for people with GSD is the over night fast. So to help his body get through that we have to give him uncooked corn starch before bed mixed with milk. Uncooked corn starch is difficult for the body to process and therefore takes a long time so it helps his body have some sort of energy source while he is sleeping. It is generally not good to eat uncooked corn starch because it is hard on the body and high in calories, but for people with GSD it is the only type of medication to help. So we were to start him on one teaspoon of corn starch before bed and then in the mornings check his blood sugar and ketone level (which is checked just like blood sugar). It was a pretty long a appointment and Micah was tired and irritable by the end but he made it through one more blood draw.
I was feeling pretty good when we left the appointment. It all sounded really manageable and much easier than I expected it to be. I was really thinking that we would give him the corn starch and it would work and all would be great! But is life ever that easy?
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| Just for fun picture, I let Micah start riding in the car with Ben at the grocery store. |
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