Thursday, February 9, 2012

A Genetics Conundrum

Life in my house is a roller coaster. We truly live in survival mode most of the time.

This is one of those seasons. I won't bore you with the details. However, in the last two weeks we have seen 4 different specialists. One for each child, plus an extra for Maddie.

Last week, Lexi saw a Metabolic Geneticist and we had some interesting discussions. We don't have results from any of the tests yet. One of the interesting things done was a full family tree complete with circles and squares and lots and lots of questions asked and answered.

Today while talking with a different doctor, a disease/syndrome was discussed and the doctor mentioned that it's an inherited disease from some gene mutation. While the discussion progressed, he stated that well, we would know such and such because my sons, brothers or uncles would have it.

I don't have sons.
I don't have brothers.
I don't have uncles.


How's that for a conundrum?

See, I have three girls.
I am one of four girls.
My mom is one of four girls.

So, we don't know if we have the gene mutation.

Only time will tell. Thankfully, if we do have it, the syndrome is much less severe in females than males.

And that leads me to wonder, is this why my family line is that of girls? And I can't help but think about the lost pregnancies. Was Maddie's twin a boy? I know, it doesn't matter, but I can't help it. A few years ago a doctor mentioned in passing something about genes and girls and inherited issues and boys and some other mumbo jumbo. Now this. And so, this mother's heart begins to wonder.

And there you have it.

An update on our genetics conundrum.

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