Angel - im glad you got some answers (even if they can be hard to hear). When do you meet with your doctor to talk about the results. I'm not familiar with either genetic results
We meet with the doctor Thursday afternoon, at 2:30. So very soon. I'm nervous, but will be glad to know what all of our results are from the past month. On the other hand I'm actually more afraid they'll say there's nothing wrong and that scares me more than saying there is something wrong!
As for the results: CLN3 has to do with some pretty severe defects that can cause degenerative issues and can be really bad, but because I am a carrier and DH isn't the report says that we have a 1 in 22,000 chance of that happening, so that's not really too concerning.
MTHFR is a little more concerning. I did more reading into our results. MTHFR is a mutation that makes it difficult to convert folic acid (synthetic forms of folate) into methylfolate that is necessary for our body. It has a lot of other side effects, such as anxiety/depression/difficulty detoxing (liver enzyme issues)/increased miscarriages/etc, depending on the type of mutation. I am hetero for one verison, whereas my husband is homozygous for a different version. HIs version, and that he's homozygous, makes a much bigger issue for him. We are thinking this can explain a lot of his joint pain, his anxiety, and some of his gut issues. In my case, it seems that being hetero for my version is not as serious, but there is a small chance that it could be related to my CPs. We have to probably switch our vitamins to make sure we only take vitamins with methylfolate instead of the synthetic folic acid. I'm learning more as I research and we'll learn more from the doctor Thursday.
They'll also go over DH's SA, and all my blood work from the month, so there's a lot of results to cover on Thursday!