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:
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!!!
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