Thought we were on to something

At Jacob's neurologist appointment last month the doctor decided to send a sample off for genetic testing. Polymicrogyria is usually caused by genetics, infection, or some sort of vascular event. We still do not know what caused Jacob's brain malformation so the doctor wanted to try another avenue for answers. Going back to when Jacob was born, they were going to test the placenta for various infections, genetics, etc. Well, the hospital "accidentally", or carelessly when they explained what happened, threw out my placenta even though there were several orders for the placenta to be sent for testing. That is a whole other story within itself that angers me just to think about it. Instead, we are chasing our tails now figuring out how and we most likely will never know. They did as many tests as they could while he was in utero but they came back inconclusive. They were hoping the placenta would've given us the answer but instead we are left doing a bunch of tests now after he is born while poking and prodding at him :(

So, back to the genetic test. We received a call from the neurologist last week that the results came in. He wanted Shawn and myself to both be there. They always leave us hanging with messages like that and waiting to meet them in person a week later. So last week and weekend was again, long and drawn out. Today was the day to hear the results. Only two areas came back in question when it came to the genetics. These two areas dealt with epilepsy and not with Polymicrogyria. There was only a moderate level that there was a genetic concern with these two genes. Shawn and I were asked to give a sample to go for testing to see if we carry this gene. If we both do not have this gene, then there may be some concern. If one of us, or both of us, carry the gene then there is no concern. The neurologist does not feel that the results of Jacob's genetic test led to him ending up with Polymicrogyria. So again, we are left with no real answers.

It's days like these that become so frustrating. We have gone through many tests over the course of this year. Every time, no matter how bad the test, I would silently hope that it would come back positive just so we could have a concrete answer and maybe a concrete plan of treatment and prognosis. Today, I truly felt like we were going to have some answers. But in the end, nothing. They say 50% of the time you will never know the cause. I really feel that this may be the case. If anyone knows me I am not good with dealing with the unknown. So this whole process has been tiring and trying. Oh well, back to the drawing board!