I’ve sat on the results from the genetics testing for a couple of days. I have been trying to figure out exactly how to write about it and then realized that I just needed to get it out. Dealing with Truman’s health issues was one of the main reasons I started writing this blog and it has helped so much.
Before everyone starts to freak out that we got really bad news…we didn’t. Basically.
The test results came back inconclusive. There were irregularities but they were not able to have them point to a specific disorder/syndrome.
Great news, I know. I am trying super hard to just revel in the fact that he doesn’t have this specific set of diseases…we think.
He was tested for a group of diseases called lysosomal storage diseases. They are pretty horrific. The body cannot process certain things and they begin to store up in the body leading to major, major problems…including the fact that most children do not live very long.
I have been living with this knot in my stomach. The possibility that Truman could be diagnosed with a disease that was anywhere near as awful as these diseases sounded let alone the chance that my amazing son might not have a full and happy life was devastating. So now I am told that he cannot be diagnosed with the diseases because allow his numbers were “high” they weren’t “high enough” to be used as a diagnosis.
WHAT THE HELL DOES THAT MEAN??
To the doctors that means “come back to see us in 6-12 months to see where we are at that point. Often a child will start to show us more as they age and we are then able to find the correct path to diagnosis.”
I can’t walk around with the knowledge that his numbers are “high” for an unknown reason. If he is storing these type of things for any reason and the body isn’t supposed to be storing these type of things…don’t you think we should try and figure it out? Especially since people who store these things could die?
How intelligent do I sound? I don’t even KNOW what the THINGS are because I don’t SPEAK MEDICAL JARGON! They are this long words that sound like they are made up.
Can you tell that I am not doing so well?
I need to sit with it. I need to get my head and heart wrapped around it. I know I will eventually find some peace with it. But right now I am angry. Very angry. Partially at myself. If I would have just let things be and waited the 6-12 months to begin with I wouldn’t be dealing with this knowledge that really isn’t knowledge at all. It is only a number. A number that isn’t high enough to diagnose anything but isn’t low enough to be normal.
Ah…the word normal shows it’s ugly head once again. God, I love that word. Ranks right up there with “low tone.”
I think it is time for a giant bowl of peanut butter and chocolate ice cream.