Thursday, November 1, 2012

Genetic counseling


We had our appointment with the genetic counselor and the Maternal Fetal Medicine Doctor today. The first thing I did was fill out a life history of sorts. It was 5 pages of all of my health history. I got to list all of my pregnancies on a form. They had five slots. Lucky me, I didn’t have to ask for another paper! The nurse asked me my due date. Sorry, not pregnant!

The genetic counselor sat with us for about an hour. She wanted to know complete family history back to our grandparents. We talked about every person’s pregnancies and children. I came prepared with everything written out for her, so she could follow that easily. During this discussion, we learned the difference between second cousins and first cousins once removed. The “removed” means that they are on a different generation. Second cousins are in the same generation. My grandfather’s brother’s children are my mom’s first cousins. They are my first cousins, once removed. Their children and my second cousins. Neat.

In making the family history, I found out a lot about losses in my family. I didn’t know about a lot of them. It’s rough to know that they went through it, and very sad.

Our family histories both looked pretty good. We don’t have histories of repeat losses, we don’t have birth defects or any disabilities. That is all good news for us.

My chromosomes have already been checked, so we know it’s good on my side. We also think M’s are fine. We are still having his checked because he may have a translocation (that was fully explained to us and now makes sense to me)*. We don’t know if this is the problem and we hope that it is not. But it is something to check.

The Maternal Fetal Medicine doctor came in afterwards to discuss her opinions. She wants to check my homocysteine levels. That is an extension of the blood clotting disorders, kind of an indicator of how my body is reacting to the MTHFR. If they are abnormal, it would mean taking more blood thinners. Not a huge deal.

I am not having a hysterogram or anything right now. It’s an option, but we agreed that it’s not something to look into right now.

Now we wait until the results come back. It will take about 2 weeks.

*Translocations, as I heard it: When this happens, parts of two chromosomes are switched. The person with the translocation is fine, because they have all of their chromosomes, they just happen to be in the wrong place. This becomes a problem when your cells divide for reproduction. The sperm or the egg only gets ½ of the chromosomes, so if you get the part with the translocated chromosomes, you are missing some that you need and getting too many of others. So in most cases, a baby cannot grow from this. 

1 comment:

someday-soon said...

Happy you're getting everything checked out. Hopefully the results come back clear or with something very easy to treat in the future. Good luck!!!