Post by christidee on Nov 28, 2014 16:52:36 GMT -5
Sorry it's so long. Please don't quote. I might delete since it has so much family information.
After an informative thanksgiving, DH and I are pretty set on me getting genetics testing done. I don't know where to start or what to look into first, but I know many of you have experience with it.
There are a couple reasons why I want to get it. First, my cousin died unexpectedly from a seizure a few years back at the age of 25. He had epilepsy and couldn't get it under control.
Over the summer my dad had a grand mal seizure at work and was found unconscious. He learned that over the past couple of years he has actually had hundreds of seizures, and he is now diagnosed with epilepsy.
I also recently learned that another cousin has had them and underwent extensive testing. This is all on the same side of the family. This thanksgiving I also learned that epilepsy runs very deep in this side of my family.
Now when I was in 8th grade, I had awful headaches and fainting spells. From what I remember, the eeg revealed abnormal brain spikes, and I vaguely remember the doctor asking my mom if I had ever had a seizure. This is somewhat unreliable though.
And finally, my mother was adopted and it was a closed adoption. We have no idea about her side of the family at all.
Post by christidee on Nov 28, 2014 17:20:31 GMT -5
I have an OB appt on Monday, so I'll ask then. I am not considering an amino, but I would like to see if there is an underlying genetic cause. If anything comes up with me, I would then have J and the baby tested eventually just so that we know more. I had no idea how prevalent epilepsy is in my family, and I just want to know if my kids could potentially be at risk genetically for it.
I recently had a test performed by the Reproductive clinic called the Counsyl test. They drew blood and then it was tested for 50ish genetic disorders to see if I was a carrier for anything concerning. A therealmc mentioned, you may want to check with insurance. Some genetic testing isn't covered by insurance....or will need forms and prior authorizations prior to approval.
Hi christidee, sorry you're going through this! I did prenatal genetic testing several years ago with my DD and found out that I (and then my DH) were both carriers of cystic fibrosis. A big shock to us both! I redid the Counsyl test before our recent IVF cycle and the pricing is actually pretty good. They will cap your cost to $99 - if your insurance pays the full amount (closer to $1000), great, but if not, you're really capped. Of course, it's really important to know whether the Counsyl test (or any other brand tests) actually test for whatever genetic condition may cause the seizures. They will test for over 100 disorders and even more mutations so it's a decent place to start but obviously knowing the name of the condition would be even more helpful. There's an interesting article here if you'd like to learn more. I'm truly not a shill for the company but they were helpful to us. Natera also offers a test (they actually did our IVF embryo testing) but I don't know if it tests for everything Counsyl tests for (or perhaps more).
My OB and then my RE ordered all the testing, fyi.