Where things stand (baby news update from the geneticist)

[Catholic_Lady]

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.

[FatAndFaithless]

Even though we disagree on some things, and even though sometimes serious threads can turn to shit (literally, in some cases), I'd wager everyone's rooting for you CL. Good luck!

[Minimalist]

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.

Don't go out of your way to beat yourself up, hon.  Sometimes shit just happens and 20% of all pregnancies spontaneously abort.  You have done everything possible to find out what happened.  Better luck next time.

[brewer]

Well CL, I take that as good news. It happened, no reason could be identified, time to move on.

Stop blaming yourself or the hubby. Sometimes shit happens. Living with/in the "what if's" is not a pleasant place to be.

Go about your normal life. Do what you can to stay healthy and trust that it will not happen again.

I'm rooting for you both.

[Amarok]

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:

https://atheistforums.org/thread-44655.html

https://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.

It's okay dear

bad stuff happens (I've seen a ton) feel some comfort that you investigated (trust me many would not) and let that be your closure lets cross our finger the next is a success

[vorlon13]

I was going to post something like 'my thoughts are with you', but that comes across a little creepy since you're going to be trying to conceive . . .


How about I give Emergency Auxiliary Backup Cat #2 a hug and some Christmassy kibble bits and we'll call it good ?

[vorlon13]

[Alex K]

Hey,

I just can't imagine that something like this happens again because of some genetic defect that you guys carry with you, when has one ever heard of such a case being genetic. Sure, some populations have trouble e.g.with Tay Sachs that is really genetic and potential partners need to get tested, but this to me looks like something else - IANAG, but that just looks like something coincidental went very wrong.

[vorlon13]

CL:

don't know if this helps or is even remotely analogous;

but back in the 80s when HIV was decimating my peer group, the medical science aspects of everything was a welcome distraction. And there was no shortage of items to read. There was a huge phone book sized book available called Surviving and Thriving With Aids and I'd study that thing endlessly looking for tips and suggestions to help out with the buddy work I was doing. Just sitting around and thinking about what all was happening was too awful, seems like every week there was a new infection to worry about, or another unwanted court case in the news about people or the government being vile to someone with AIDS. Having an active role in fixing whatever aspect I could really helped.

I also had a 'catalog' of sorts that put in one place all the experimental drug trials in one handy reference. My favorite at the time was a Betaseron study. The science looked really good and the minimal side effects was wonderful. And then I met someone in the study and it was working on him! Turned out he had 'weird' body chemistry and he was about the only one it worked on.

So the gist of this is, the medical/geneticist material you posted is fascinating, and if you're looking to maybe enhance your understanding, there is plenty of DNA and genetic testing stuff to study on the internet. Stay busy and distracted, then you won't be 'trying too hard' etc, and since being busy will crowd out time for concerns and worries, the PMA will increase the odds of a positive outcome.

[Catholic_Lady]

Hey,

I just can't imagine that something like this happens again because of some genetic defect that you guys carry with you, when has one ever heard of such a case being genetic. Sure, some populations have trouble e.g.with Tay Sachs that is really genetic and potential partners need to get tested, but this to me looks like something else - IANAG, but that just looks like something coincidental went very wrong.

Right.

Genetic syndromes aren't always hereditary. They can be the result of gene mutations that happen during conception or shortly afterwards. We are all very doubtful that either my husband or I are carrying anything, or that we are both carrying the same recessive mutated gene. This was more than likely a gene mutation that happened to the baby that was independent of mine or my husband's genetics. I'm just very scared that it'll happen again, because we don't know what triggered it.

---

CL:

don't know if this helps or is even remotely analogous;

but back in the 80s when HIV was decimating my peer group, the medical science aspects of everything was a welcome distraction.  And there was no shortage of items to read.  There was a huge phone book sized book available called Surviving and Thriving With Aids and I'd study that thing endlessly looking for tips and suggestions to help out with the buddy work I was doing. Just sitting around and thinking about what all was happening was too awful, seems like every week there was a new infection to worry about, or another unwanted court case in the news about people or the government being vile to someone with AIDS.  Having an active role in fixing whatever aspect I could really helped.

I also had a 'catalog' of sorts that put in one place all the experimental drug trials in one handy reference.  My favorite at the time was a Betaseron study.  The science looked really good and the minimal side effects was wonderful.  And then I met someone in the study and it was working on him!  Turned out he had 'weird' body chemistry and he was about the only one it worked on.

So the gist of this is, the medical/geneticist material you posted is fascinating, and if you're looking to maybe enhance your understanding, there is plenty of DNA and genetic testing stuff to study on the internet. Stay busy and distracted, then you won't be 'trying too hard' etc, and since being busy will crowd out time for  concerns and worries, the PMA will increase the odds of a positive outcome.

Thank you Vor. I agree completely. Trust me, I have educated myself extensively on this over the past week, using google and medical websites. I've definitely learned a lot.