First of all, for those who are not aware of "my story" and would by any chance care to know what the heck has been going on in my boring life this past year, below are the other threads I've written about "the situation." This thread is a continuation of those.
In order:
http://atheistforums.org/thread-44655.html
http://atheistforums.org/thread-46318.html
So, I finally had an appointment with a geneticist last week to go over baby Joseph's autopsy report. As ya'll know, the report was not able to pin point any particular diagnoses for all the stuff that was wrong with him.
However, the geneticist I met with thinks all of Joseph's physical abnormalities as well as the dysfunctional placenta are all the result of an unknown genetic syndrome of some sort.
As you know, we did genetic testing on Joseph's amniotic fluid back when I was still pregnant with him, and it came back normal. I assumed this meant a genetic syndrome was ruled out and that his genes were perfectly fine. However, I have recently learned that the genetic test only picks up the more common genetic mutations. It doesn't pick up all of them. To put it into perspective, we all have 20,000 genes in our chromosomes and genetic testing is only able to look for mutations in a few hundred of them.
So the geneticist's best guess is that Joseph had a genetic syndrome that is unknown and too rare to have been picked up by testing. He also thinks that since mine and my husband's family history is so clean and since we are not at all related, the genetic problem Joseph had was not hereditary.
In other words, one or more of his genes got mutated spontaneously either during conception or shortly thereafter as his cells were multiplying.
Since we know very little about *why* genes spontaneously mutate sometimes, it is impossible to know what the chance of reoccurance is with a future pregnancy.
Since it was probably not hereditary, it could have been anything that caused one or more of Joseph's genes to not form correctly. Maybe I was exposed to some toxin during early pregnancy that wreaked havoc in there for the baby. Maybe there's something about my body's chemistry that wasn't good for the formation of a new life. Maybe my egg or Brian's sperm had some sort of isolated defect to begin with. We just don't know and as of now there's no way to find out.
Nonetheless, after having a pre conception physical and getting blood levels checked, I was given the "go ahead" to begin trying to conceive again if I want, and just take the chance. So I will begin trying again next month.
Needless to say, and as I'm sure you know, I am absolutely terrified. I am afraid this will happen again and I'll be pregnant with a baby who I know will die, like last time. Or perhaps the next one will have something very wrong with him/her but survive anyway. If Joseph had survived, he would have had severe physical and mental handicaps, as well as severe health issues. So the thought terrifies me and I have never been more afraid in my life. I can't even fathom the panic and anxiety I'll be in every time I go in for an OB appointment and worry about what they might find wrong with the baby.
Ugh. Ok so anyway. The last paragraph was a bit of venting.
That's basically the news as of now.
Here's to me hoping, with my entire life, for my next baby to be healthy.
In order:
http://atheistforums.org/thread-44655.html
http://atheistforums.org/thread-46318.html
So, I finally had an appointment with a geneticist last week to go over baby Joseph's autopsy report. As ya'll know, the report was not able to pin point any particular diagnoses for all the stuff that was wrong with him.
However, the geneticist I met with thinks all of Joseph's physical abnormalities as well as the dysfunctional placenta are all the result of an unknown genetic syndrome of some sort.
As you know, we did genetic testing on Joseph's amniotic fluid back when I was still pregnant with him, and it came back normal. I assumed this meant a genetic syndrome was ruled out and that his genes were perfectly fine. However, I have recently learned that the genetic test only picks up the more common genetic mutations. It doesn't pick up all of them. To put it into perspective, we all have 20,000 genes in our chromosomes and genetic testing is only able to look for mutations in a few hundred of them.
So the geneticist's best guess is that Joseph had a genetic syndrome that is unknown and too rare to have been picked up by testing. He also thinks that since mine and my husband's family history is so clean and since we are not at all related, the genetic problem Joseph had was not hereditary.
In other words, one or more of his genes got mutated spontaneously either during conception or shortly thereafter as his cells were multiplying.
Since we know very little about *why* genes spontaneously mutate sometimes, it is impossible to know what the chance of reoccurance is with a future pregnancy.
Since it was probably not hereditary, it could have been anything that caused one or more of Joseph's genes to not form correctly. Maybe I was exposed to some toxin during early pregnancy that wreaked havoc in there for the baby. Maybe there's something about my body's chemistry that wasn't good for the formation of a new life. Maybe my egg or Brian's sperm had some sort of isolated defect to begin with. We just don't know and as of now there's no way to find out.
Nonetheless, after having a pre conception physical and getting blood levels checked, I was given the "go ahead" to begin trying to conceive again if I want, and just take the chance. So I will begin trying again next month.
Needless to say, and as I'm sure you know, I am absolutely terrified. I am afraid this will happen again and I'll be pregnant with a baby who I know will die, like last time. Or perhaps the next one will have something very wrong with him/her but survive anyway. If Joseph had survived, he would have had severe physical and mental handicaps, as well as severe health issues. So the thought terrifies me and I have never been more afraid in my life. I can't even fathom the panic and anxiety I'll be in every time I go in for an OB appointment and worry about what they might find wrong with the baby.
Ugh. Ok so anyway. The last paragraph was a bit of venting.
That's basically the news as of now.
Here's to me hoping, with my entire life, for my next baby to be healthy.
"Of course, everyone will claim they respect someone who tries to speak the truth, but in reality, this is a rare quality. Most respect those who speak truths they agree with, and their respect for the speaking only extends as far as their realm of personal agreement. It is less common, almost to the point of becoming a saintly virtue, that someone truly respects and loves the truth seeker, even when their conclusions differ wildly."
-walsh
-walsh
