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Showing posts with label chromosome testing. Show all posts
Showing posts with label chromosome testing. Show all posts

Tuesday, December 15, 2009

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.

Tuesday, November 24, 2009

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.