First of all, we have finally gotten an ultrasound with a 100% BOY confirmation. Now we have a few months to officially prepare mentally for four boys! Thank goodness it takes a couple years before they're totally wild, right?
Secondly, Doman's doctor called last week with our genetic test results. No surprise that they were quite interesting results again. The doctor used the word "muddy." This is probably boring genetic info for some, but I think it's kind of interesting, so I'll try and explain it.
First, when Doman's tests came back they found that he actually had two mutations on the gene they were looking at. One mutation they could tell was for sure disease-causing, and the second mutation they could not tell. That is why the doctor wanted both me and Dan tested. So on my gene, there were no mutations... thank you very much, Dan, who thought I was for sure the one who'd pass on a muscle problem. :) On Dan's gene there was a mutation; it was the same mutation Doman has that they could not tell if it was disease causing or not. But that means the disease-causing mutation that Doman has is for sure a splice-site mutation (spontaneous mutation.) This is exactly what we were hoping for even though the doctor said it was a highly unlikely result to hope for. But because Dan passed the one random mutation on, even though it doesn't seem disease-causing, it still makes for an interesting case. Our doctor and the geneticist are going to try to figure things out some more. They're also going to see if they can figure out if it's recessive or dominant because that is what determines his specific diagnosis.
The bottom line: For whatever reason, Doman's gene mutated on it's own before birth. If he has kids, they will have a 50% chance of having Congenital Muscular Dystrophy. The good news is that there is no chance of our new little babe having CMD, or any other children we have in the future. Even though we're feeling pretty happy (overwhelmed might be a better word) with having the five kids, this is still a huge relief.
That's all for now! We'll have a big Utah post up soon!
Saturday, August 08, 2009
Two pieces of news...
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4 comments:
I'm so glad for your good news! Just remember, you will probably be back around adoring aunts, uncles,
and grandparents when most of the raising will happen. I'm sorry I missed you. I guess I showed up only hours after you left. When will you be back again???
Hello you!
Congrats on the next boy! I'm glad you've at least gotten one girl so far. :) All of this news with Doman is just crazy. I am so glad you finally know what's going on, though. I really miss you, friend!!
Great news--about Doman and the next baby boy Briggs!! Isn't it crazy how much time goes by when you're in graduate school!? I didn't know we had been out the same amount of time. One more year--hopefully!--for us.
You and your boys Karen!!! It takes a special kind of mom to raise boys and you are definitely that kind of mom! That's actually good news because I have a cute "boy" present that I left with Marianna for you but then you were only slightly sure you were having a boy, so now she can officially give it to you. :)
And I'm so relieved this baby has his own chance of healthiness and that Dan can't give you a hard time. :) Thanks for all the details because I have really wanted to know how everything went. Thank goodness for blogs!
Miss you tons!!
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