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Tuesday, August 17, 2010

London Update...

I'm going to have my amniocentesis at 3pm today and I am terrified.

I'm not too keen on the idea of having a very long needle slowly inserted into my abdomen, ya know? I'm also not very fond of knowing that the tip of this needle will be centimeters (millimeters?) away from Fireball 2. I'm EVEN MORE nervous about the small risk of miscarriage following this procedure.

But, it must be done and I'm all "man-ed up" ready to do it.

My super-fab Genetics Counselor "R" called me last week (8/11/10) to share some exciting news. London found BOTH copies of our mutations in Niki. This meant that they could successfully test Fireball 2 for factor VII deficiency once they received DNA samples from the baby's amnio. "R" is super-fab because she was able to get me an appointment for amnio pretty dang quick. Amnio normally has a waiting list, but she pulled some strings and bumped up my appointment.

"R" had some "bad news" to share though....

The mutations John and I have possess something called a "stop codon." I'm not a science geek (that's my big sister's, but R explained to me that a stop codon basically means that our mutations are incomplete. It can somewhat be compared to reading a paragraph and only having the first few sentences. Both of our "paragraphs" aren't complete.

This means that we will ALWAYS have babies that are severely factor VII deficient IF they are going to be affected by the gene. We will never have babies that are mildly or moderately affected by FVII-def because of we both have stop codons. So, our particular mutations don't have enough data for our kids to have even *some* factor in their system.

So, it looks like it's all or nothing when it comes to this bleeding disorder.

Believe it or not, we're okay with that as long as we can be prepared. In a few short weeks, I will know the FVII status of this kid. At this point, I'm hoping for either a carrier (only has one copy of the FVII gene) or a normal. If we're blessed with another baby with special blood, that's okay too.

At least Niki will have someone to share medical supplies with. ;-)

Either way, wish us luck....

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