Sorry for the lack of updates. These are exciting times. Tori and the baby are progressing beautifully. The biggest drama for Tori right now is that her massive collection of shoes no longer fits her feet. We got the results of my blood tests (all clean) and Tori's. We found out that Tori is a carrier for the deletion that is present in the baby's chromosomal makeup. Although it is not an indication of anything definite, we have found a sense of encouragement in the idea that this may have been in the family for a while. There is a chance that other men in Tori's family have this same deletion and have not shown any serious side effects. Although we are staying cautious (I would say "realistic", but Tori did go to a doctor who talked to the baby), we are extremely optimistic. I feel a little silly for dragging so many people along on the roller coaster that has been this pregnancy. For this I humbly apologize. I guess this is the drawback of having a blog.
We have been attending our Bradley Method classes for the past three weeks. Tori and I are intent on having an all natural childbirth. Like Tori said in her post, Cesca's impressive showing with baby Alex seems to have fortified this desire in both Tori and I. The classes make for long Tuesdays (class ends at 9:30) but it has been beyond informative. This seems to be the most important aspect of The Bradley Method. Information gives the mother the power to overcome any anxiety about the idea of pushing a bowling ball out of her body. I'm just glad to be "coach" and not "playing" this game.
To show our progress, Tori and I have been calling the baby (rarely) by his future name, "Jack". I feel hesitant to do so because of how complicated everything has been so far. And we have been in...um...negotiations about his middle name. I am so happy we had his name picked out before we conceived because trying to think up a name is really hard. I can't imagine trying to wait until after he was born. I am pushing for awesome things like "Han" and "Yoda" but Tori will have none of it. This is a negotiation I will be happy to lose.
Thank you to all who have shown us love and support. We feel honored to have such caring people as our friends and family.
Thursday, October 22, 2009
Friday, October 9, 2009
What a week!
Oh boy, so much excitement in the last week! We kicked off the week with the long awaited (according to my sister's uterus!) arrival of Baby Alex. Francesca and Dan welcomed their little boy Monday night after 2 weeks of labor -2 weeks!! Cesca started labor on Monday Sept 21st, having on/off contractions (not Braxton-Hicks, the real deal) for 2 weeks desperately trying to get the show on the road. Finally it picked up steam this Monday Oct 5th as she checked into the hospital at night dilated to 8cm. Dan, my mom, and I all had front row seats of Alex's arrival as we were her "birthing support system" or so the nurse named us. Dan and my mom were more hands on helping to support her during the physical feat of pushing during the contractions, as I stood by the doctor videotaping (waist-up, as she wasn't up for sharing that view with anyone) witnessing the coolest science experiment of my life. She was awesome, did it all natural Bradley Method birthing (that's no drugs for those not familiar) and it was amazing! Everyone keeps asking me if she was screaming, and are then completely shocked when I tell them she was totally calm and in control of the situation. What an inspiration!
Little Alex was not so little weighing in at 8lbs 1 oz and 21 inches and a sturdy little man. From the time his whole head came out followed by the rest of his body was probably only about 3 seconds, and I haven't watched the video yet, but I'm pretty sure I'm screaming "Oh my god! How is that coming out of you?? There's so much of him!!!"
They're all doing great as Alex is getting adjusted to his new home and Cesca and Dan are loving this little bundle of cuteness that has stolen their hearts. We still can't quite figure out who he looks like, but he keeps changing every day. Cesca and I had a good laugh today about the below picture because we think he looks like a nun in a habit wrapped up in his blanket...ah Catholic School humor.
We haven't had any recent blogs updating our most recent test findings last Wed Sept 30th with our little Baby Bug, but lots of you have been given verbal or email updates. For those out-of-the-loop, after receiving the results that Smith-Lemli-Optiz came back negative, they were testing to see if he had Steroid Sulfatase Deficiency (or it's more common named X-Linked Ichthyosis, a skin condition) or any other chromosomal defect to explain my low hormone levels from the original test.
As it turns out, our Little Bug has been diagnosed with Steroid Sulfatase Deficiency which means there is a deletion of a gene on his X Chromosome. Since he is a "he" meaning he gets an "X" chromosome from mom and a "Y" chromosome from dad and he has a deletion on his "X" chromosome it is most likely a recessive defect mom has passed onto baby. Only men have this disease and only women are carriers. There is a 50% chance that mom will pass her good healthy X chromosome onto the baby and the other half of the time she'll pass her bad recessive carrier X chromosome (confused by the science class talk yet?). Usually this defect is visually detectable in families as the men have obvious flaky, scaly skin conditions, but since my maternal side of the family has so few men (who's skin all appears normal) we couldn't make a solid assessment either way. There is the second possibility that this was a mutation that occurred all on it's own in the baby's developmental process due to external or environmental factors, having nothing to do with my genes. A blood test was ordered for me to see if I am a carrier last Thursday, which we still haven't gotten the results for.
Getting back to this deletion, or missing piece, which contain proteins and enzymes that make your skin function correctly. Since he's missing those necessary proteins and enzymes he can develop a skin condition which causes the skin cells to build up, instead of sloughing off, creating a thick scaly appearance. It can be remedied with different treatments and creams, and being the expert esthetician I am, I have quite the toolbox of goods for fixing skin problems so that wasn't much to be concerned about. Our biggest concern was that if the deletion was so large it could include more serious symptoms such as hormonal imbalances or mental retardation. However the testing available to the geneticists through the amniotic fluid is not enough to determine the severity of the deletion just the fact that there is indeed a deletion, thereby leaving us with a myriad of questions and no answers. The only test available to determine the severity of deletion is a blood test which is performed once the baby is born. This high level of uncertainty left us in an abysmal state, deciding whether or not to take the risk carrying to full term or to terminate the pregnancy.
After several more days of diligent research into the matter, I deduced the size of the deletion did not have a direct correlation to the severity of the symptoms (meaning a full deletion of the gene does not necessarily have more severe symptoms than a partial deletion). If the deletion extends beyond gene Xp22.3 (our gene marker in question) to neighboring genes along the X chromosome, then the deletions of those surrounding genes are what contribute to the hormonal imbalances and/or mental retardation (Sorry, again with the over explanation on the science talk). From what our pediatric geneticist feebly explained to us (she was not as helpful as our first geneticist Stephanie), it was just this genetic marker Xp22.3 we had to worry about, not the surrounding ones. She told us that all her patients who presented with this defect had babies who solely had skin issues which cleared-up within a few months and showed no more symptoms after. She had heard of more severe cases, but never seen them. Yet she also told us that hormonal issues and mental retardation were possibilities. Maybe it's a legal disclosure, but certainly not a comforting one.
We were starting to think positively that maybe the baby would be ok. I had gotten a couple referrals from trusted friends and clients to contact a homeopathic doctor and psychic (go ahead and laugh if you want, I don't care) who had proven wildly helpful and reliable for them in the past. I went and saw the homeopathic doctor this Wed Oct 7th. He uses a form of homeopathic medicine called muscle testing. If you're unfamiliar with it, the way it works is you hold your middle and thumb fingers together making a circle. When your body is telling the truth you can keep that circle tightly closed, when it's not he can break the fingers open. He went through a series of questions deciphering the severity of the condition, what it was related to, if I was a carrier, etc. And since the baby's body is connected to mine, my body can answer for his (it's all very metaphysical and cool). Anyways, he could determine that I was indeed not a carrier. That this was a pathogen or bacteria that had entered the baby's system (possibly by me being exposed to something during the pregnancy) disrupting the normal balance of what's needed for all systems to function properly. He could determine it was 15% deficient needing only one dosage to bring all levels back up to 100% fully functioning. As he explained it, Western medicine only goes so far in the treatment process, treating the symptoms instead of the problem. His philosophy is to treat the root of the problem and correct and re-balance the body, which totally makes sense to me. So he gave me 1 dosage which was this little crystal ball that dissolved in my mouth. I don't know what it was and frankly I don't care. I am to go back in 3 weeks and he'll check in with our bodies and see if everything is up to snuff. My visit was $50, but I would have gladly written the check for $500 for the peace of mind this visit gave me.
So I end my long-winded explanation in conclusion that we have decided to continue with the pregnancy despite the risks associated with the diagnosis. Mainly because I don't feel there are risks at this point. I have complete faith in my homeopathic doctor that he will balance out any deficiencies in the baby in a natural and safe method if needed, ya know like if my magic dissolving crystal ball didn't do the trick. And if I have any other worries I do have the psychic's number for back up...
Little Alex was not so little weighing in at 8lbs 1 oz and 21 inches and a sturdy little man. From the time his whole head came out followed by the rest of his body was probably only about 3 seconds, and I haven't watched the video yet, but I'm pretty sure I'm screaming "Oh my god! How is that coming out of you?? There's so much of him!!!"
They're all doing great as Alex is getting adjusted to his new home and Cesca and Dan are loving this little bundle of cuteness that has stolen their hearts. We still can't quite figure out who he looks like, but he keeps changing every day. Cesca and I had a good laugh today about the below picture because we think he looks like a nun in a habit wrapped up in his blanket...ah Catholic School humor.
We haven't had any recent blogs updating our most recent test findings last Wed Sept 30th with our little Baby Bug, but lots of you have been given verbal or email updates. For those out-of-the-loop, after receiving the results that Smith-Lemli-Optiz came back negative, they were testing to see if he had Steroid Sulfatase Deficiency (or it's more common named X-Linked Ichthyosis, a skin condition) or any other chromosomal defect to explain my low hormone levels from the original test.
As it turns out, our Little Bug has been diagnosed with Steroid Sulfatase Deficiency which means there is a deletion of a gene on his X Chromosome. Since he is a "he" meaning he gets an "X" chromosome from mom and a "Y" chromosome from dad and he has a deletion on his "X" chromosome it is most likely a recessive defect mom has passed onto baby. Only men have this disease and only women are carriers. There is a 50% chance that mom will pass her good healthy X chromosome onto the baby and the other half of the time she'll pass her bad recessive carrier X chromosome (confused by the science class talk yet?). Usually this defect is visually detectable in families as the men have obvious flaky, scaly skin conditions, but since my maternal side of the family has so few men (who's skin all appears normal) we couldn't make a solid assessment either way. There is the second possibility that this was a mutation that occurred all on it's own in the baby's developmental process due to external or environmental factors, having nothing to do with my genes. A blood test was ordered for me to see if I am a carrier last Thursday, which we still haven't gotten the results for.
Getting back to this deletion, or missing piece, which contain proteins and enzymes that make your skin function correctly. Since he's missing those necessary proteins and enzymes he can develop a skin condition which causes the skin cells to build up, instead of sloughing off, creating a thick scaly appearance. It can be remedied with different treatments and creams, and being the expert esthetician I am, I have quite the toolbox of goods for fixing skin problems so that wasn't much to be concerned about. Our biggest concern was that if the deletion was so large it could include more serious symptoms such as hormonal imbalances or mental retardation. However the testing available to the geneticists through the amniotic fluid is not enough to determine the severity of the deletion just the fact that there is indeed a deletion, thereby leaving us with a myriad of questions and no answers. The only test available to determine the severity of deletion is a blood test which is performed once the baby is born. This high level of uncertainty left us in an abysmal state, deciding whether or not to take the risk carrying to full term or to terminate the pregnancy.
After several more days of diligent research into the matter, I deduced the size of the deletion did not have a direct correlation to the severity of the symptoms (meaning a full deletion of the gene does not necessarily have more severe symptoms than a partial deletion). If the deletion extends beyond gene Xp22.3 (our gene marker in question) to neighboring genes along the X chromosome, then the deletions of those surrounding genes are what contribute to the hormonal imbalances and/or mental retardation (Sorry, again with the over explanation on the science talk). From what our pediatric geneticist feebly explained to us (she was not as helpful as our first geneticist Stephanie), it was just this genetic marker Xp22.3 we had to worry about, not the surrounding ones. She told us that all her patients who presented with this defect had babies who solely had skin issues which cleared-up within a few months and showed no more symptoms after. She had heard of more severe cases, but never seen them. Yet she also told us that hormonal issues and mental retardation were possibilities. Maybe it's a legal disclosure, but certainly not a comforting one.
We were starting to think positively that maybe the baby would be ok. I had gotten a couple referrals from trusted friends and clients to contact a homeopathic doctor and psychic (go ahead and laugh if you want, I don't care) who had proven wildly helpful and reliable for them in the past. I went and saw the homeopathic doctor this Wed Oct 7th. He uses a form of homeopathic medicine called muscle testing. If you're unfamiliar with it, the way it works is you hold your middle and thumb fingers together making a circle. When your body is telling the truth you can keep that circle tightly closed, when it's not he can break the fingers open. He went through a series of questions deciphering the severity of the condition, what it was related to, if I was a carrier, etc. And since the baby's body is connected to mine, my body can answer for his (it's all very metaphysical and cool). Anyways, he could determine that I was indeed not a carrier. That this was a pathogen or bacteria that had entered the baby's system (possibly by me being exposed to something during the pregnancy) disrupting the normal balance of what's needed for all systems to function properly. He could determine it was 15% deficient needing only one dosage to bring all levels back up to 100% fully functioning. As he explained it, Western medicine only goes so far in the treatment process, treating the symptoms instead of the problem. His philosophy is to treat the root of the problem and correct and re-balance the body, which totally makes sense to me. So he gave me 1 dosage which was this little crystal ball that dissolved in my mouth. I don't know what it was and frankly I don't care. I am to go back in 3 weeks and he'll check in with our bodies and see if everything is up to snuff. My visit was $50, but I would have gladly written the check for $500 for the peace of mind this visit gave me.
So I end my long-winded explanation in conclusion that we have decided to continue with the pregnancy despite the risks associated with the diagnosis. Mainly because I don't feel there are risks at this point. I have complete faith in my homeopathic doctor that he will balance out any deficiencies in the baby in a natural and safe method if needed, ya know like if my magic dissolving crystal ball didn't do the trick. And if I have any other worries I do have the psychic's number for back up...
Tuesday, September 29, 2009
Daddy's Perspective
It's funny how when something bad happens that is completely out of your control, you find anything you can to blame. When the news about our baby came in, I blamed this blog. I blamed myself for creating this blog. And for telling so many people. I'm not a religious man, but I am very superstitious (anyone who was with me during the '94 NFC Playoffs or the '02 World Series can attest to that, and I am sorry if I yelled at you for changing positions in the room). I felt that I had somehow jinxed everything by celebrating too early. I know it sounds crazy, but it's how I felt. I know that we are not in the clear yet, and I hope this doesn't jinx anything, but I want to write about how I am feeling.
When that call came in, it seemed as though it was a call I had been dreading my whole life. I have always worried that I wouldn't be strong enough to be the parent of a special needs child. My classroom is directly across a driveway from a school for special needs children. I see their parents drop them off in the morning, and I know that even that can take tremendous effort. I have always admired those parents and questioned my own ability to handle that kind of lifestyle. Anyway, back to the call. I was surprised by myself. I was confident and sure. I helped take care of Tori as she sobbed into my chest. I wasn't numb. I wasn't confused. I knew what I had to do in that moment. I had to be strong for my family. I have never felt more like a man.
I was surprised again when we saw our son's (still feels weird saying it) little...um...thing. I have always been sure that I would have only daughters. I have never imagined what it would be like to raise a son. I was fully prepared in that moment when they showed us the sex of the baby to celebrate that we were having a baby girl. When we found out that we will be having a boy, everything flipped around and swirled in my head. I saw his whole life as it related to me, playing out in my mind. It happened in a flash, but it changed this whole thing for me. I saw him taking his first steps, saying his first words, teaching him how to play baseball and, for some reason, especially football. Tori bought this great football chair and I could see him sitting there next to his daddy watching football on Sundays. And then I remembered that that little boy in there with the perfect looking head, heart, feet and hands might not make it. I was so happy and so distraught in that moment, I thought my heart might give out.
When the next call came in, saying that the test came back normal, all of those images of his life came rushing back. This time, however, I was in front of my 4th period English class. (They immediately planned a baby shower when I told them the news) As the time has gone on, I am getting more used to the idea of having a boy, but I don't know if it will fully set in until we know all of the tests have been done.
Tori has been great and we are feeling very hopeful and optimistic right now. We are trying to stay realistic and remember that we are not out of the woods yet, but we have been laughing and that is the sign to me that things have gone back to normal (somewhat). We have put the finishing touches on the apartment (no more boxes in the living room and the baby's room is somewhat cleared out so that I can use it as my workout room in the morning) and it is starting to feel like home even more.
Probably the second most exciting news aside from the test results is that our little "bug" as Tori has begun to call him has started kicking. Kicking isn't really the word for it actually. It's more like fluttering. And I have even felt the little flutters. Apparently he doesn't like it when his mommy does crunches. It is starting to feel very real now, and I have never felt more ready. I know now that I can be strong for my family. That I am a man.
When that call came in, it seemed as though it was a call I had been dreading my whole life. I have always worried that I wouldn't be strong enough to be the parent of a special needs child. My classroom is directly across a driveway from a school for special needs children. I see their parents drop them off in the morning, and I know that even that can take tremendous effort. I have always admired those parents and questioned my own ability to handle that kind of lifestyle. Anyway, back to the call. I was surprised by myself. I was confident and sure. I helped take care of Tori as she sobbed into my chest. I wasn't numb. I wasn't confused. I knew what I had to do in that moment. I had to be strong for my family. I have never felt more like a man.
I was surprised again when we saw our son's (still feels weird saying it) little...um...thing. I have always been sure that I would have only daughters. I have never imagined what it would be like to raise a son. I was fully prepared in that moment when they showed us the sex of the baby to celebrate that we were having a baby girl. When we found out that we will be having a boy, everything flipped around and swirled in my head. I saw his whole life as it related to me, playing out in my mind. It happened in a flash, but it changed this whole thing for me. I saw him taking his first steps, saying his first words, teaching him how to play baseball and, for some reason, especially football. Tori bought this great football chair and I could see him sitting there next to his daddy watching football on Sundays. And then I remembered that that little boy in there with the perfect looking head, heart, feet and hands might not make it. I was so happy and so distraught in that moment, I thought my heart might give out.
When the next call came in, saying that the test came back normal, all of those images of his life came rushing back. This time, however, I was in front of my 4th period English class. (They immediately planned a baby shower when I told them the news) As the time has gone on, I am getting more used to the idea of having a boy, but I don't know if it will fully set in until we know all of the tests have been done.
Tori has been great and we are feeling very hopeful and optimistic right now. We are trying to stay realistic and remember that we are not out of the woods yet, but we have been laughing and that is the sign to me that things have gone back to normal (somewhat). We have put the finishing touches on the apartment (no more boxes in the living room and the baby's room is somewhat cleared out so that I can use it as my workout room in the morning) and it is starting to feel like home even more.
Probably the second most exciting news aside from the test results is that our little "bug" as Tori has begun to call him has started kicking. Kicking isn't really the word for it actually. It's more like fluttering. And I have even felt the little flutters. Apparently he doesn't like it when his mommy does crunches. It is starting to feel very real now, and I have never felt more ready. I know now that I can be strong for my family. That I am a man.
Thursday, September 24, 2009
Good News
We got some good news today! Stephanie our geneticist called with results from Baltimore regarding the Smith-Lemli-Opitz Syndrome, which was our biggest concern. The test came back normal, over 99% accurate that he does not have this disease, so we are thrilled.
They still have more tests to run to rule out any other disorders which may explain why my UE3 hormone level was low (which was the indicator for Smith-Lemi-Opitz). Basically they will go over his chromosomes with a fine tooth comb and look for any mutations to explain the original positive test result. We should have all the remaining test results by the end of next week, but for now so far so good.
Thanks so much to everyone for the positive energy you've been sending our way. Keep your fingers and toes crossed for one more week in hopes that the other results are as good!
They still have more tests to run to rule out any other disorders which may explain why my UE3 hormone level was low (which was the indicator for Smith-Lemi-Opitz). Basically they will go over his chromosomes with a fine tooth comb and look for any mutations to explain the original positive test result. We should have all the remaining test results by the end of next week, but for now so far so good.
Thanks so much to everyone for the positive energy you've been sending our way. Keep your fingers and toes crossed for one more week in hopes that the other results are as good!
Thursday, September 17, 2009
Highs and Lows
The week started out bubbling over with excitement. We had our appointment to find out the sex of the baby and we could hardly contain our anticipation of finding out. Everyone was so vehemently opinionated...mostly leaning toward a girl, but there were a few holding strong for a boy. Wednesday was only a day away, just 24 hours to go when my cell phone rang. It was Kaiser. The serum integrated blood test done in both the 1st and 2nd trimester screenings had come back positive. "Positive for what?" I asked. "I don't know, just positive. It's very important you keep your ultrasound appointment for tomorrow and go straight to the genetics department afterward so they can explain what the positive means and what your options are" she said. Luckily Dave hadn't left for work yet and I could crumble into a bucket of tears on his chest while he stayed strong and let me sob. We looked through the booklets on the testing to figure out what the possibilities were of a positive test result...all were bleak. Mostly some form of mental retardation and/or severe physical ailments and handicaps. We figured best to go to work and distract our minds from this news, especially as we didn't know what exactly was wrong and it would do us no good to sit around and let our imaginations run wild.
Wednesday morning arrived and the joyful anticipation of finding out the sex was replaced by the sobering anticipation of finding out the genetic defect. I'd cried myself out Tuesday so when Wednesday came I could effectively remove myself emotionally from the situation to actually find out on a scientific level what was wrong. I went back alone with the ultrasound tech to take all the measurements. Everything went very well, good strong heartbeat, all the measurements were absolutely perfect, few days ahead of schedule big head and belly, right on schedule arms and legs. I could kind of see the screen at different angles and I asked at one point if that was its face and arms. It looked like it was riding a roller-coaster with it's arms thrown up overhead going "Wheee!" It was not, and the tech laughed and said he could see why I thought that, but it would have been really funny if it was (the child would definitely be taking after it's mother not father). After all the measurements were done he went out and brought Dave and my mom back in so we could all see the baby. He got a good profile view of the little bug snuggled up. Pressing good and hard with the ultrasound hand piece against my 40 oz full-of-water bladder this little bug did a flutter kick push off and started running. I mean running, these little legs were moving! He moved the ultrasound around up under the cute little feet and toes, right up the bum shot and boom there's our little man's chunk of junk...it's a boy. A boy who looks perfectly healthy yet in 20 mins we'll find out what's wrong with him.
After the bittersweet excitement of the ultrasound we marched across the street to the Genetics Dept and met Stephanie our genetics counselor. She was amazing and explained everything they test for and what it means. Everything came out normal except for 1 level was extremely low which is indicative of Smith-Lemli-Opitz Syndrome. What? we all thought to ourselves, what is that? Down syndrome we knew, Trisomy 13 and 18 we became familiar with, but Smith-Lemli-Opitz we had no idea. She explained how it was an extremely rare disease where the baby doesn't produce cholesterol which leads to moderate to severe mental retardation, kidney failure, cleft palate, physical handicaps...basically just bad all around. Both Dave and I have to be carriers for this to have passed on, which is very odd because it is such a rare disease and our parents don't know of anyone in the family having this. According to the numbers there is a 1 in 17 chance that the baby has this disease. There is also a hopeful chance that absolutely nothing is wrong. We scheduled an amniocentesis, that I had performed this afternoon, to do further tests. The amniocentesis can decipher with 99% accuracy whether or not this really is Smith-Lemli-Opitz. The doctor who performed the amniocentesis was very sweet and walked us through the entire procedure of poking my belly with a huge needle to suck out some amniotic fluid. It went great, didn't hurt at all just a bit of pressure. Luckily the baby was very cooperative and stayed way over to the left side of my belly while Dr. Marshall poked the right side of my belly to suck out the amniotic fluid. After taking enough fluid for testing he ran the ultrasound back over my belly to look at the baby. He looked perfectly fine and healthy and completely unaware a needle had just violated his home and sucked out a few vials of his pee and shed skin cells (apparently that's what amniotic fluid is made of, very fancy indeed). And then he spun around and gave us a nice crotch shot, and Dr. Marshall went "yep definitely a boy!" Dave seems quite proud of his boy's penis by the way. I don't know if it's that or just that he's so excited or surprised it's a boy. After we finished the appointment Dave asked Dr. Marshall how often with Smith-Lemli-Opitz the results come back as a false positive. His answer was hopeful and funny because basically he just reworded what we heard yesterday but it sounded completely different. He said, I can give you an exact number. 16 out of 17 times it will be a false positive because there is only a 1 in 17 chance it's positive, so let's stay hopeful you're part of the 16. Anyway, it takes about 2-3 weeks to get the results from the amnio. The sample has to be sent to Baltimore for testing as they are the foremost authority on Smith-Lemli-Opitz Syndrome. Most likely they won't receive the sample til Tue, so 2 weeks from there should take us to about a 3 week waiting period total. We're doing okay after a few days of being able to process the news. We're staying hopeful, especially since seeing the very healthy ultrasound and hearing about lots of people who've had false positives. But we are cautiously hopeful and very much aware that this little bug may just not be meant to be. So with that we have a long 2 weeks ahead of us and we'll just have to wait and see.
Thank you to all who've sent your love and support.
Wednesday morning arrived and the joyful anticipation of finding out the sex was replaced by the sobering anticipation of finding out the genetic defect. I'd cried myself out Tuesday so when Wednesday came I could effectively remove myself emotionally from the situation to actually find out on a scientific level what was wrong. I went back alone with the ultrasound tech to take all the measurements. Everything went very well, good strong heartbeat, all the measurements were absolutely perfect, few days ahead of schedule big head and belly, right on schedule arms and legs. I could kind of see the screen at different angles and I asked at one point if that was its face and arms. It looked like it was riding a roller-coaster with it's arms thrown up overhead going "Wheee!" It was not, and the tech laughed and said he could see why I thought that, but it would have been really funny if it was (the child would definitely be taking after it's mother not father). After all the measurements were done he went out and brought Dave and my mom back in so we could all see the baby. He got a good profile view of the little bug snuggled up. Pressing good and hard with the ultrasound hand piece against my 40 oz full-of-water bladder this little bug did a flutter kick push off and started running. I mean running, these little legs were moving! He moved the ultrasound around up under the cute little feet and toes, right up the bum shot and boom there's our little man's chunk of junk...it's a boy. A boy who looks perfectly healthy yet in 20 mins we'll find out what's wrong with him.
After the bittersweet excitement of the ultrasound we marched across the street to the Genetics Dept and met Stephanie our genetics counselor. She was amazing and explained everything they test for and what it means. Everything came out normal except for 1 level was extremely low which is indicative of Smith-Lemli-Opitz Syndrome. What? we all thought to ourselves, what is that? Down syndrome we knew, Trisomy 13 and 18 we became familiar with, but Smith-Lemli-Opitz we had no idea. She explained how it was an extremely rare disease where the baby doesn't produce cholesterol which leads to moderate to severe mental retardation, kidney failure, cleft palate, physical handicaps...basically just bad all around. Both Dave and I have to be carriers for this to have passed on, which is very odd because it is such a rare disease and our parents don't know of anyone in the family having this. According to the numbers there is a 1 in 17 chance that the baby has this disease. There is also a hopeful chance that absolutely nothing is wrong. We scheduled an amniocentesis, that I had performed this afternoon, to do further tests. The amniocentesis can decipher with 99% accuracy whether or not this really is Smith-Lemli-Opitz. The doctor who performed the amniocentesis was very sweet and walked us through the entire procedure of poking my belly with a huge needle to suck out some amniotic fluid. It went great, didn't hurt at all just a bit of pressure. Luckily the baby was very cooperative and stayed way over to the left side of my belly while Dr. Marshall poked the right side of my belly to suck out the amniotic fluid. After taking enough fluid for testing he ran the ultrasound back over my belly to look at the baby. He looked perfectly fine and healthy and completely unaware a needle had just violated his home and sucked out a few vials of his pee and shed skin cells (apparently that's what amniotic fluid is made of, very fancy indeed). And then he spun around and gave us a nice crotch shot, and Dr. Marshall went "yep definitely a boy!" Dave seems quite proud of his boy's penis by the way. I don't know if it's that or just that he's so excited or surprised it's a boy. After we finished the appointment Dave asked Dr. Marshall how often with Smith-Lemli-Opitz the results come back as a false positive. His answer was hopeful and funny because basically he just reworded what we heard yesterday but it sounded completely different. He said, I can give you an exact number. 16 out of 17 times it will be a false positive because there is only a 1 in 17 chance it's positive, so let's stay hopeful you're part of the 16. Anyway, it takes about 2-3 weeks to get the results from the amnio. The sample has to be sent to Baltimore for testing as they are the foremost authority on Smith-Lemli-Opitz Syndrome. Most likely they won't receive the sample til Tue, so 2 weeks from there should take us to about a 3 week waiting period total. We're doing okay after a few days of being able to process the news. We're staying hopeful, especially since seeing the very healthy ultrasound and hearing about lots of people who've had false positives. But we are cautiously hopeful and very much aware that this little bug may just not be meant to be. So with that we have a long 2 weeks ahead of us and we'll just have to wait and see.
Thank you to all who've sent your love and support.
Saturday, September 12, 2009
Damn you Verizon!
Last week I wrote that I would have an update after our doctor's appointment. That was before Verizon shut down our internet (which just came back up). The appointment went very well. We met our midwife and heard the baby's heartbeat. Everything looks good so far. The real news is that on Wednesday, we find out the baby's gender. Luckily, we are furlowed that day and I will have no problem being there. So look for an update on Wednesday and possibly a mass text as soon as we know.
Tori has been doing well. Her hands and feet have been hurting and occasionally her pre-natal vitamins make her sick, but for the most part she has been doing well. The move went well (except for the week without internet and the loss of our Tivo). The apartment is beautiful, although it is still a work in progress. The baby's room (I love saying that) is currently where everything we don't know what to do with yet is being housed. We had to make an Ikea run to get furniture to fit our new apartment, but it is super classy. And we got a new Tivo that is better than the old one, so no real loss there. Possibly the best feature of our new apartment is that the air circulates without the need for fans. Our old apartment necessitated a ceiling fan and two oscillating fans and it still felt like an oven in the late afternoon. We get very little direct sunlight, but we have more than twice as many windows, so the apartment has been staying nice and cool in this Indian summer heat. The new address is 120 Grand Ave, Apt 304, Long Beach, CA 90803.
The school year is gearing up (a week earlier than I had anticipated) and I am starting to feel the pressure. I had a bit of a minor meltdown on Thursday when I was told that I would have to "roam" to different classrooms to teach my English classes. With the help of the ever-practical Joe Svoboda I solved that problem, so there was no major meltdown. I start directing "David and Lisa" the story of two mentally disturbed teenagers who fall in love next week. It will be the only play I direct this year in preparation for Peanut's grand entrance. Wow. This may be the last blog where the baby is known as Peanut...
Tori has been doing well. Her hands and feet have been hurting and occasionally her pre-natal vitamins make her sick, but for the most part she has been doing well. The move went well (except for the week without internet and the loss of our Tivo). The apartment is beautiful, although it is still a work in progress. The baby's room (I love saying that) is currently where everything we don't know what to do with yet is being housed. We had to make an Ikea run to get furniture to fit our new apartment, but it is super classy. And we got a new Tivo that is better than the old one, so no real loss there. Possibly the best feature of our new apartment is that the air circulates without the need for fans. Our old apartment necessitated a ceiling fan and two oscillating fans and it still felt like an oven in the late afternoon. We get very little direct sunlight, but we have more than twice as many windows, so the apartment has been staying nice and cool in this Indian summer heat. The new address is 120 Grand Ave, Apt 304, Long Beach, CA 90803.
The school year is gearing up (a week earlier than I had anticipated) and I am starting to feel the pressure. I had a bit of a minor meltdown on Thursday when I was told that I would have to "roam" to different classrooms to teach my English classes. With the help of the ever-practical Joe Svoboda I solved that problem, so there was no major meltdown. I start directing "David and Lisa" the story of two mentally disturbed teenagers who fall in love next week. It will be the only play I direct this year in preparation for Peanut's grand entrance. Wow. This may be the last blog where the baby is known as Peanut...
Thursday, September 3, 2009
It's been awhile...
Tomorrow is our next baby appointment. Not much to report since the last one. Tori is doing spectacularly well. She has tons of energy (I'll spend more on this later) and her spirits have been very high. The heat has been hard on her and hasn't helped the swelling of her hands and feet that come with pregnancy. The other night her wedding rings got stuck. It was like a bad 80's sitcom. At least it wasn't a borrowed ring. And there wasn't any Crisco.
I have, however, gone back to work. I reveled in the applause my students gave me when they saw my updated power point presentation that introduces me to my classes. There was a new addition that pointed to a picture of Tori's belly and said, "Our baby." That was a great feeling. Aside from us and our family, my students will be the ones most effected by our new child. I spend more time with my students than I do with anyone besides Tori. I told them that the happy expression they were seeing on my face would be much different come February/March when I'm not sleeping and all I want to do is spend time with my new baby. They laughed...I guess they thought I was kidding.
This weekend will be when we move into our new two-bedroom apartment on the third floor. Of course we are smack-dab in the middle of an epic heat wave. We have actually already started the move. Last weekend we spent the day loading up the hand-truck, furniture dollies, and shopping carts with all of the flotsam and jetsam that is usually the last thing you move. Our goal is to have all surfaces cleared and all of the nooks and crannies (boy, lots of antiquated sayings in this post) emptied so that when everyone comes on Saturday (amazing friends and family) to help us move, they won't have to help us with that crap and can just help me move the fridge, couch, bed, etc. I hope to keep Tori from doing anything, but that may prove to be as fruitful as trying to hold back a tidal wave with a bamboo umbrella. It is fun to think that we are about to move into our baby's first home. And, although we have lived together in many other places, I suppose it will be our first home as a family.
Family. That is the part of this thing that I find the most bamboozling (you didn't think I could work that word in, did you?). We are starting a family. It isn't just a child, it is the start of a generation. Count me...bamboozled.
I have, however, gone back to work. I reveled in the applause my students gave me when they saw my updated power point presentation that introduces me to my classes. There was a new addition that pointed to a picture of Tori's belly and said, "Our baby." That was a great feeling. Aside from us and our family, my students will be the ones most effected by our new child. I spend more time with my students than I do with anyone besides Tori. I told them that the happy expression they were seeing on my face would be much different come February/March when I'm not sleeping and all I want to do is spend time with my new baby. They laughed...I guess they thought I was kidding.
This weekend will be when we move into our new two-bedroom apartment on the third floor. Of course we are smack-dab in the middle of an epic heat wave. We have actually already started the move. Last weekend we spent the day loading up the hand-truck, furniture dollies, and shopping carts with all of the flotsam and jetsam that is usually the last thing you move. Our goal is to have all surfaces cleared and all of the nooks and crannies (boy, lots of antiquated sayings in this post) emptied so that when everyone comes on Saturday (amazing friends and family) to help us move, they won't have to help us with that crap and can just help me move the fridge, couch, bed, etc. I hope to keep Tori from doing anything, but that may prove to be as fruitful as trying to hold back a tidal wave with a bamboo umbrella. It is fun to think that we are about to move into our baby's first home. And, although we have lived together in many other places, I suppose it will be our first home as a family.
Family. That is the part of this thing that I find the most bamboozling (you didn't think I could work that word in, did you?). We are starting a family. It isn't just a child, it is the start of a generation. Count me...bamboozled.
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