Anywho...I'm bored. Oh, don't get me wrong I have plenty of things to do I'm just bored in terms of TTC. My life revolves around having a baby so now that I'm just kinda hanging out....I'm bored!!! I feel like I need something to do so, well, I created something to do.
As you probably recall, Jim and I decided against the Counsyl test because we didn't want to find more things wrong with us. The more I think about it and the more bored I'm getting.... Eff this, I'm having it done. What else do I have going on right?
Ok, yes that sounds insane to just have a test done just because but I do have reasoning behind this decision. After looking over the list of disorders they test for, while 97% are of no interest there are a few that I'd feel better about knowing. They are:
1) Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency -- the geneticist said back in February if a genetic disorder were to have caused the preeclampsia, this one could possibly have done it. Its rarer than a purple cow pretty much, but then again, so am I!
2) MTHFR--- I've been told it would be extremely unlikely to have more than one clotting disorder but , see #1. This disorder creates low levels of folic acid and can cause neural tube defects. Umm, hello Dandy Walker is a defect so lets test this!!
3) PROP-1 --- this one is for my own amusement as my Endocrinologist believes I have this and is why I have the endocrine issues I do. They can't do anything about it, but at least I'd know they were right or not.
4) Joubert's Syndrome--- I read that this syndrome can cause low set ears. Jack had low set ears but since he was chromosomally normal we cant determine why.
There are tons more that they test for but these four I'm very interested in especially. I've also made an appointment for a consultation with the MFM that saw us originally and gave us the DW dx in December. I want to meet with her before getting pregnant again to see if I'm ok with being under her care in a future pregnancy. Other people have said that I should forgive her for not being concerned with my BP when I was at her office....we'll see!
I don't blame you for getting tested. The chances of you having any of these things are slim, and if everything comes back clear you'll feel so much better. And if the news is bad, then at least you can be prepared and come up with a possible treatment plan. Good luck with your testing and the MFM consult!
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