The Road to Gattica Is Paved With These

That, ladies and gentlemen, is a normal baby girl. I know this, because I signed up to do massive amounts of genetic testing on her - not just counting chromosomes which is your normal amniocentesis. Because of my "advanced maternal age" and because the twins are autistic - we qualified to do all sorts of fancy studies.

They're going to keep our chromosomes on file and study them and use them in various research studies where they are looking for patterns which detect disease. And not just eyeballing them - looking at them at incredible detail under the microscope for any sort of error.....they can see some cancers this way.

If they find them on us - they'll contact us. Nutty -eh?

This one is mine. Did you ever see your own chromosomes? It freaks me out a little - these are what I am made of. They're so bizarre - but I'm told that they are completely normal - I've had myriad phone calls saying that they've passed this and that and the other thing. 100% NORMAL - at least at the chromosome level.

This is the husband. See the Y chromosome? I don't even know how they think some of these match, it's so bizarre.

What freaks me out, based on some of the things we've learned, is that they can see autism (sometimes or all the time I'm not sure) as a microscopic chromosome error. They don't know how it's caused........but they can see it.

What then gives me pause is that if they can see it - then in the future they can make decisions to eliminate it. And you know what I mean.

I'm very pro choice - but based on the papers I signed which allow them to keep my chromosomes and DNA on file at Columbia......I just felt the way the wind was blowing. Genetic Selection will become a reality. I just participated in the process. I did it for selfish reasons - because I wanted to hear that my baby girl was ok. And it will be invaluable in detecting disease and other problems so you can be prepared at birth.

I'm not going to worry about a future I can't change, and I'm really glad for all the good it will do. I'm just sad that someone someday might make a choice that would deny them curly headed boys who give kisses and love the Teletubbies.

Because sometimes you don't know that you would want something until you are faced with it. And then you know you'd rather have that, than nothing at all.

The Road to Gattica Is Paved With These

That, ladies and gentlemen, is a normal baby girl. I know this, because I signed up to do massive amounts of genetic testing on her - not just counting chromosomes which is your normal amniocentesis. Because of my "advanced maternal age" and because the twins are autistic - we qualified to do all sorts of fancy studies.

They're going to keep our chromosomes on file and study them and use them in various research studies where they are looking for patterns which detect disease. And not just eyeballing them - looking at them at incredible detail under the microscope for any sort of error.....they can see some cancers this way.

If they find them on us - they'll contact us. Nutty -eh?

This one is mine. Did you ever see your own chromosomes? It freaks me out a little - these are what I am made of. They're so bizarre - but I'm told that they are completely normal - I've had myriad phone calls saying that they've passed this and that and the other thing. 100% NORMAL - at least at the chromosome level.

This is the husband. See the Y chromosome? I don't even know how they think some of these match, it's so bizarre.

What freaks me out, based on some of the things we've learned, is that they can see autism (sometimes or all the time I'm not sure) as a microscopic chromosome error. They don't know how it's caused........but they can see it.

What then gives me pause is that if they can see it - then in the future they can make decisions to eliminate it. And you know what I mean.

I'm very pro choice - but based on the papers I signed which allow them to keep my chromosomes and DNA on file at Columbia......I just felt the way the wind was blowing. Genetic Selection will become a reality. I just participated in the process. I did it for selfish reasons - because I wanted to hear that my baby girl was ok. And it will be invaluable in detecting disease and other problems so you can be prepared at birth.

I'm not going to worry about a future I can't change, and I'm really glad for all the good it will do. I'm just sad that someone someday might make a choice that would deny them curly headed boys who give kisses and love the Teletubbies.

Because sometimes you don't know that you would want something until you are faced with it. And then you know you'd rather have that, than nothing at all.

Yes Virginia, There is A Santa Claus

I got our amnio results early this morning and if you have somehow NOT heard.......

the baby is fine.

And she is indeed Julia and not Hambone - which is what the husband decided we would name a boy. (Dear Lord).

I don't really know what to say. The relief is so complete, so overwhelming.

I called my OB and asked if there is even any reason for me to RETURN to the perinatologist. Apparently no one ever asked that before, because the nurse didn't know what to say and they are going to call me to tomorrow to let me know what HE says.

Life is good. It really really is.

Yes Virginia, There is A Santa Claus

I got our amnio results early this morning and if you have somehow NOT heard.......

the baby is fine.

And she is indeed Julia and not Hambone - which is what the husband decided we would name a boy. (Dear Lord).

I don't really know what to say. The relief is so complete, so overwhelming.

I called my OB and asked if there is even any reason for me to RETURN to the perinatologist. Apparently no one ever asked that before, because the nurse didn't know what to say and they are going to call me to tomorrow to let me know what HE says.

Life is good. It really really is.

I Don't Want A Lot For Christmas

There is just one thing I need


I don't care about the presents


Underneath the Christmas tree.


I just want you for my own


More than you could even know

Make my wish come true......

All I want for Chrismas........

Is You.




Amnio Results tomorrow. We'll let you know.

I Don't Want A Lot For Christmas

There is just one thing I need


I don't care about the presents


Underneath the Christmas tree.


I just want you for my own


More than you could even know

Make my wish come true......

All I want for Chrismas........

Is You.




Amnio Results tomorrow. We'll let you know.

Everyone Who Told Me Amnio Didn't Hurt - FIRST AGAINST THE WALL!

Well we spent the better part of our day at the high risk OB enjoying all the lovely things they offer.
Like...GENETIC COUNSELING!
And BLOOD DRAWS WITH LOTS AND LOTS OF VIALS!
AND AMNIOCENTESIS! Can I get a WOOT WOOT?

Ok ok ok. lots of people want to know what all went on and what all happened so lemme recap.

First we met with the genetic counselor, who was actually quite nice and very not-scary and she took our family histories for bad DNA, explained the amnio again and then offered us the opportunity to participate in two different studies. One will use our chromosomes to help determine if they can link specific chromosome abnormality to diseases (outside of the big ones they already know about). They're talking about super super small defects or irregularities that have to be seen with the microscope. Of course, I'd be a dick if I said NO to that - it could provide SERIOUS help to people in the future.
The second study is one where they are trying to be able to detect Down's Syndrome via blood draw AS ACCURATELY as they do with amnio. I had to donate extra blood and extra fluid to BOTH of these studies. But again....especially after HAVING the amnio - I'd do anything to help someone NOT have to go through that.

The blood draws sucked as blood draws do. I'm no hero. I'm not tough. People will say "But you've had three kids!" and I'll respond that YEAH, and I'm a total fucking whiny baby throughout the entire childbirth process too. You don't want any part of me during labor until I'm properly drugged up because I am NOT a trooper. WHY? Because there are no REWARDS for being a trooper. So I'm going to be exactly as big of a baby as I feel like being.

But the amnio-ack. Ok I admit I went in terrified and then they TOOK so FUCKING LONG to get to it (we were there like 4 hours) that my husband had to LEAVE because our kids would be getting off the bus. So then I'm on my own. The doctor that we don't like much (not the one from the phone call) was actually really sweet and realized I was scared and did her best to be super kind and supportive.

Here is what it is like. When the needle goes into your skin, it's like a blood draw, kind of like damn that sucks. When the needle goes into your uterus.....it feels like a hot metal rod. I can't explain it any other way. It feels huge. It's not a damn pinch like they said. It's unimaginable and it feels exactly like what it is. A piece of metal inside you.

I might have done better, and be less whiny but the baby kept moving, stretching up into the empty pocket where the needle was.

And she kept having to withdraw "slightly". Just enough to repeat the most painful part of the procedure over and over and over.

But suddenly I felt a much sharper and WORSE version of the same pain and then she says "OK we're done."

I had been gripped the sides of the table so hard, and clenching so hard, I could barely stand up. They tell me THEN that I can't go to work tomorrow (WTF?) and that I'm supposed to take it easy and lay around like a slug for 24 hours.

I came home and had peanut butter, cheese, crackers, chocolate covered cherry and a glass of wine and slept. I am not sure if I am physically hurt or just emotionally scarred.

I could have results as early as tomorrow for the "fast screen" or it could be Monday due to the holiday.

So there you go. You are all caught up.

Everyone Who Told Me Amnio Didn't Hurt - FIRST AGAINST THE WALL!

Well we spent the better part of our day at the high risk OB enjoying all the lovely things they offer.
Like...GENETIC COUNSELING!
And BLOOD DRAWS WITH LOTS AND LOTS OF VIALS!
AND AMNIOCENTESIS! Can I get a WOOT WOOT?

Ok ok ok. lots of people want to know what all went on and what all happened so lemme recap.

First we met with the genetic counselor, who was actually quite nice and very not-scary and she took our family histories for bad DNA, explained the amnio again and then offered us the opportunity to participate in two different studies. One will use our chromosomes to help determine if they can link specific chromosome abnormality to diseases (outside of the big ones they already know about). They're talking about super super small defects or irregularities that have to be seen with the microscope. Of course, I'd be a dick if I said NO to that - it could provide SERIOUS help to people in the future.
The second study is one where they are trying to be able to detect Down's Syndrome via blood draw AS ACCURATELY as they do with amnio. I had to donate extra blood and extra fluid to BOTH of these studies. But again....especially after HAVING the amnio - I'd do anything to help someone NOT have to go through that.

The blood draws sucked as blood draws do. I'm no hero. I'm not tough. People will say "But you've had three kids!" and I'll respond that YEAH, and I'm a total fucking whiny baby throughout the entire childbirth process too. You don't want any part of me during labor until I'm properly drugged up because I am NOT a trooper. WHY? Because there are no REWARDS for being a trooper. So I'm going to be exactly as big of a baby as I feel like being.

But the amnio-ack. Ok I admit I went in terrified and then they TOOK so FUCKING LONG to get to it (we were there like 4 hours) that my husband had to LEAVE because our kids would be getting off the bus. So then I'm on my own. The doctor that we don't like much (not the one from the phone call) was actually really sweet and realized I was scared and did her best to be super kind and supportive.

Here is what it is like. When the needle goes into your skin, it's like a blood draw, kind of like damn that sucks. When the needle goes into your uterus.....it feels like a hot metal rod. I can't explain it any other way. It feels huge. It's not a damn pinch like they said. It's unimaginable and it feels exactly like what it is. A piece of metal inside you.

I might have done better, and be less whiny but the baby kept moving, stretching up into the empty pocket where the needle was.

And she kept having to withdraw "slightly". Just enough to repeat the most painful part of the procedure over and over and over.

But suddenly I felt a much sharper and WORSE version of the same pain and then she says "OK we're done."

I had been gripped the sides of the table so hard, and clenching so hard, I could barely stand up. They tell me THEN that I can't go to work tomorrow (WTF?) and that I'm supposed to take it easy and lay around like a slug for 24 hours.

I came home and had peanut butter, cheese, crackers, chocolate covered cherry and a glass of wine and slept. I am not sure if I am physically hurt or just emotionally scarred.

I could have results as early as tomorrow for the "fast screen" or it could be Monday due to the holiday.

So there you go. You are all caught up.

Hi This is Dr Jones, I've Got Some Really Bad News

This, in my opinion is not the way to start any conversation with a pregnant woman that doesn't end with "And your baby is dead."


I went last Friday for my next round of sequential screening - and they RAVED about the baby on ultrasound. She looks great, everything looks great, and I quote "WE HAVE NO CONCERNS".


Then I get the call from Mr. Bedside Manner. Oh excuse me, DOCTOR Bedside Manner.


I hold my breathe while he talks. "Well all of your risk factors have shot way up, we're especially concerned about your trisomy 18 risk factor which has shot to 1:85. We are going to need you to come in next week for more ultrasound and additional screening tests."


And I sob.


Trisomy 18, if you don't want to click on the link, means death for your baby. It's an extra chromosome on pair #18 and it includes horrendous birth defects and odds so bad - I'm amazed everyone doesn't terminate on the spot. It is a cruelty that I didn't even know existed and now they're telling me Julia could have it.


Oh and don't forget DOWNS. Like, Downs figures aren't as good as they were either - but hell, I'm barely even PHASED by that in the face of the other.




So I got off the phone and I sobbed and sobbed and I called my husband hysterical and I sobbed some more and I just sat there.....I felt adrift. Like I'd been cast out of the lifeboat and no one else was in sight.




And then I got mad.




If this was so fucking dangerous WHY didn't Dr Bedside Manner suggest amniocentesis immediately? I called their office back, still hysterical, and DEMANDED an amnio. I wanted it YESTERDAY. They put me through to a genetic counselor who I was probably not that nice to but I was fairly busy sobbing and screeching and telling her I HAVE TO KNOW I WANT AN AMNIO RIGHT NOW.




So they made it happen, for Monday.




And I was still hysterical. I couldn't think all day yesterday, I was in a blind panic and felt like everything was just over. Done. I didn't sleep right, I had nightmares all night and I frankly faced today fairly numbly.




So today I called my regular OB and told them I was cancelling my appt for next week, and that I'd reschedule after I got the results of my amnio. I just couldn't take going to that office, seeing all those big bellies and smiling faces........and knowing that my baby might never breathe. Of course, in the course of that conversation I again began sobbing and hitching in what I can best describe as an undignified pregnant woman with raging hormones trying to sound rational and in control.




It SO did not work. They immediately put me through to my nurse, who told me my OB was in surgery but he'll call me tomorrow. And to calm down. Duh.




So then, I called my high risk OB (yeah I have TWO, don't be jealous.). I explained that I wanted answers, I wanted to understand my scores and if they were integrated scores or individual scores and also - I wanted to know WHY they changed so much.




Dr. Supersweet and Understanding called me back.




The firs thing he said was, "You do realize that your odds, despite having worsened, are still better than double those for your age group?" Which - I swear to you the other doctor told me the OPPOSITE. I began to calm down. Then he walked me through why he's not immediately concerned about Trisomy 18.......he said it's fairly pronounced, and while he can't PROMISE, he sees nothing on ANY of my ultrasounds that indicates she has any of those birth defects - which are physical and just tragic. He said, reiterating what I have already heard, that on ultrasound, she's looking very good.





He also said that he understood that I wanted an amnio, that not knowing is very taxing and hard when you have all these hormones raging - and an amnio can provide reassurance that nothing is wrong or define what IS wrong, if something is.





I got off the phone feeling better.....able to breathe. I made an appointment with a genetic counselor because he asked me to and said he felt it was important so FINE. Then after that we'll do amnio and results will come back within 2 weeks, I guess depends on how long it takes them to match up and count chromosomes. If I remember properly from high school it takes a while to figure out which are exact matches. :)





Yesterday, I thought the world had ended for Julia and that I was going to have to decide to carry her to term just to watch her die, or make the ultimate decision and grieve sooner rather than later.



Today I feel better. I'm still fairly emotionally raw. But I'm better. And my husband made me laugh hysterically several times this evening.....so I think that is a good sign.


I leave you with, something to make you smile.

Hi This is Dr Jones, I've Got Some Really Bad News

This, in my opinion is not the way to start any conversation with a pregnant woman that doesn't end with "And your baby is dead."


I went last Friday for my next round of sequential screening - and they RAVED about the baby on ultrasound. She looks great, everything looks great, and I quote "WE HAVE NO CONCERNS".


Then I get the call from Mr. Bedside Manner. Oh excuse me, DOCTOR Bedside Manner.


I hold my breathe while he talks. "Well all of your risk factors have shot way up, we're especially concerned about your trisomy 18 risk factor which has shot to 1:85. We are going to need you to come in next week for more ultrasound and additional screening tests."


And I sob.


Trisomy 18, if you don't want to click on the link, means death for your baby. It's an extra chromosome on pair #18 and it includes horrendous birth defects and odds so bad - I'm amazed everyone doesn't terminate on the spot. It is a cruelty that I didn't even know existed and now they're telling me Julia could have it.


Oh and don't forget DOWNS. Like, Downs figures aren't as good as they were either - but hell, I'm barely even PHASED by that in the face of the other.




So I got off the phone and I sobbed and sobbed and I called my husband hysterical and I sobbed some more and I just sat there.....I felt adrift. Like I'd been cast out of the lifeboat and no one else was in sight.




And then I got mad.




If this was so fucking dangerous WHY didn't Dr Bedside Manner suggest amniocentesis immediately? I called their office back, still hysterical, and DEMANDED an amnio. I wanted it YESTERDAY. They put me through to a genetic counselor who I was probably not that nice to but I was fairly busy sobbing and screeching and telling her I HAVE TO KNOW I WANT AN AMNIO RIGHT NOW.




So they made it happen, for Monday.




And I was still hysterical. I couldn't think all day yesterday, I was in a blind panic and felt like everything was just over. Done. I didn't sleep right, I had nightmares all night and I frankly faced today fairly numbly.




So today I called my regular OB and told them I was cancelling my appt for next week, and that I'd reschedule after I got the results of my amnio. I just couldn't take going to that office, seeing all those big bellies and smiling faces........and knowing that my baby might never breathe. Of course, in the course of that conversation I again began sobbing and hitching in what I can best describe as an undignified pregnant woman with raging hormones trying to sound rational and in control.




It SO did not work. They immediately put me through to my nurse, who told me my OB was in surgery but he'll call me tomorrow. And to calm down. Duh.




So then, I called my high risk OB (yeah I have TWO, don't be jealous.). I explained that I wanted answers, I wanted to understand my scores and if they were integrated scores or individual scores and also - I wanted to know WHY they changed so much.




Dr. Supersweet and Understanding called me back.




The firs thing he said was, "You do realize that your odds, despite having worsened, are still better than double those for your age group?" Which - I swear to you the other doctor told me the OPPOSITE. I began to calm down. Then he walked me through why he's not immediately concerned about Trisomy 18.......he said it's fairly pronounced, and while he can't PROMISE, he sees nothing on ANY of my ultrasounds that indicates she has any of those birth defects - which are physical and just tragic. He said, reiterating what I have already heard, that on ultrasound, she's looking very good.





He also said that he understood that I wanted an amnio, that not knowing is very taxing and hard when you have all these hormones raging - and an amnio can provide reassurance that nothing is wrong or define what IS wrong, if something is.





I got off the phone feeling better.....able to breathe. I made an appointment with a genetic counselor because he asked me to and said he felt it was important so FINE. Then after that we'll do amnio and results will come back within 2 weeks, I guess depends on how long it takes them to match up and count chromosomes. If I remember properly from high school it takes a while to figure out which are exact matches. :)





Yesterday, I thought the world had ended for Julia and that I was going to have to decide to carry her to term just to watch her die, or make the ultimate decision and grieve sooner rather than later.



Today I feel better. I'm still fairly emotionally raw. But I'm better. And my husband made me laugh hysterically several times this evening.....so I think that is a good sign.


I leave you with, something to make you smile.