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...
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