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Jeff and I will be walking with other members of Team Graciebelle on April 24th to raise money for the March of Dimes in memory of Gracie. We have set a realistic goal of raising $300 for this very worthy cause. If each of my Facebook friends, each of my blog friends and each of Jeff's Facebook friends donate just $2.00, we could collect a total donation of more than $800 (in addition to donations from friends and family who are not FB and blog addicts.) To make a donation or join Team Graciebelle for the walk, click on the widget in the top left corner of the page. :-)
Saturday, March 27, 2010
Thursday, March 25, 2010
DEJA VU
I had a voice mail from one of the physicians in my OB practice yesterday afternoon requesting that I call him 'to discuss some stuff'. I knew what this meant, even before I returned the call. I knew what it meant the minute I saw the number on the call history on my cell phone. It meant that there had been some kind of 'hit' on the first trimester screen that we had done last Monday.
We are essentially right back to where we started with Gracie...the screening showed the odds of Jellybean having Down Syndrome to be 1 in 39. Again, it is just a screening, but this screening is becoming to be more and more accurate...to the point of being about 85-90% accurate in detecting DS. My OB had me talk with the Maternal Fetal Medicine group from Harrisburg that sees patients in our OB office twice a month; ultimately, I ended up talking with a genetic counselor for quite some time yesterday evening and this morning.
Our concern at this point is not really whether or not Jellybean has Down Syndrome - we will happily accept a child with Down Syndrome. But we would really like to identify any underlying issues that may be lurking (assuming that Jellybean does have DS...and assuming that the 99% certainty that Gracie had DS is correct). Once you have a DS baby, the odds of having another rise to 1%. Many second cases are simply flukes, but many are actually genetically predisposed. (I know that this may seem kind of obvious, but for further explanation of what I'm trying to say please check out Translocation Down Syndrome.) The genetic counselor's main concern at this point is helping us determine if one of us is carrying a chromosomal translocation that potentially predisposes our children to Down Syndrome. If I am a carrier for that anomaly, the chance of our future children having DS increases to 15-20%; if Jeff is a carrier, the chance of our future children having DS increases to about 5%.
The first step of the 'plan', as presented by the genetic counselor, is to determine whether or not Jellybean has DS. In order to do this, she initially wanted us to have chorionic villus sampling done to determine the presence of DS. For several reasons, this would have to be done tomorrow or Monday, and we would have to travel to Harrisburg to have it done at their main office. We can get the same information from an amniocentesis in a few weeks. The risk for lost pregnancy is less with amniocentesis, and we could have an amnio done in Lewisburg instead of Harrisburg. So...CVS was immediately ruled out. We are still on the fence about the amnio. I really don't want to do it, but I am honestly not sure that I can wait until September or October to have answers to all of this. The plan at this point is to schedule the amnio now, simply because it won't happen for another 2-3 weeks anyway. That gives us time to talk to more people and gather more information. If we get information that seems positive and encouraging, we can always cancel the amnio.
I posted some questions on a couple Down Syndrome forums today, and one of the mothers suggested that Jeff and I have chromosomal analysis done without doing the amnio. If one of us tests positive as a carrier for a translocated chromosome, we can pretty much just assume that Jellybean does have DS. I like this option MUCH better, but I am already in the middle of a power struggle with my insurance and I suspect that the genetic testing may not be covered without the supporting affirmative diagnosis of Down Syndrome via CVS or amnio. But it is certainly worth investigating, especially if there is a chance that I can prevent a big, fat needle from being stuck into my belly.
So that is where we are...for now. Not really where we want to be, but there are certainly worse positions to be in. Updates to follow as we have them...
We are essentially right back to where we started with Gracie...the screening showed the odds of Jellybean having Down Syndrome to be 1 in 39. Again, it is just a screening, but this screening is becoming to be more and more accurate...to the point of being about 85-90% accurate in detecting DS. My OB had me talk with the Maternal Fetal Medicine group from Harrisburg that sees patients in our OB office twice a month; ultimately, I ended up talking with a genetic counselor for quite some time yesterday evening and this morning.
Our concern at this point is not really whether or not Jellybean has Down Syndrome - we will happily accept a child with Down Syndrome. But we would really like to identify any underlying issues that may be lurking (assuming that Jellybean does have DS...and assuming that the 99% certainty that Gracie had DS is correct). Once you have a DS baby, the odds of having another rise to 1%. Many second cases are simply flukes, but many are actually genetically predisposed. (I know that this may seem kind of obvious, but for further explanation of what I'm trying to say please check out Translocation Down Syndrome.) The genetic counselor's main concern at this point is helping us determine if one of us is carrying a chromosomal translocation that potentially predisposes our children to Down Syndrome. If I am a carrier for that anomaly, the chance of our future children having DS increases to 15-20%; if Jeff is a carrier, the chance of our future children having DS increases to about 5%.
The first step of the 'plan', as presented by the genetic counselor, is to determine whether or not Jellybean has DS. In order to do this, she initially wanted us to have chorionic villus sampling done to determine the presence of DS. For several reasons, this would have to be done tomorrow or Monday, and we would have to travel to Harrisburg to have it done at their main office. We can get the same information from an amniocentesis in a few weeks. The risk for lost pregnancy is less with amniocentesis, and we could have an amnio done in Lewisburg instead of Harrisburg. So...CVS was immediately ruled out. We are still on the fence about the amnio. I really don't want to do it, but I am honestly not sure that I can wait until September or October to have answers to all of this. The plan at this point is to schedule the amnio now, simply because it won't happen for another 2-3 weeks anyway. That gives us time to talk to more people and gather more information. If we get information that seems positive and encouraging, we can always cancel the amnio.
I posted some questions on a couple Down Syndrome forums today, and one of the mothers suggested that Jeff and I have chromosomal analysis done without doing the amnio. If one of us tests positive as a carrier for a translocated chromosome, we can pretty much just assume that Jellybean does have DS. I like this option MUCH better, but I am already in the middle of a power struggle with my insurance and I suspect that the genetic testing may not be covered without the supporting affirmative diagnosis of Down Syndrome via CVS or amnio. But it is certainly worth investigating, especially if there is a chance that I can prevent a big, fat needle from being stuck into my belly.
So that is where we are...for now. Not really where we want to be, but there are certainly worse positions to be in. Updates to follow as we have them...
Sunday, March 21, 2010
12.5 WEEKS
Monday (March 15th) was our appointment for the nuchal translucency ultrasound – it is part of the first trimester screen for Down Syndrome and similar anomalies. The ultrasound went well and looked, and the ultrasound tech referred to Jellybean as a ‘jumping bean’, since Jellybean was moving all over the place. The blood work that goes with the screen should be back either by the end of this week or early next week. If there are no ‘problems’ identified, we won’t hear anything until we see the midwife on April 5th. If they see ‘anything of concern’ they will call us before that point.
Everything continues to be uneventful, which is what we want. More updates as things progress, but probably not until our appointment on April 5th unless something unexpected creeps up.
Saturday, March 6, 2010
11 WEEK APPOINTMENT
I saw Dr. Redcay yesterday for my physical yesterday. Not necessarily an appointment that anyone looks forward to, but it turned out to be a really good appointment. We were able to hear Jellybean's heart beat with the doppler yesterday, which was a pleasant surprise. Heart rate was a nice, strong 160 beats per minute.
We had only met with Dr. Redcay for about 5 minutes during our pregnancy with Gracie, so I wasn't sure what to expect. I had really good conversation with her yesterday about Gracie, as well as this pregnancy. During our appointment with Dr. S. it was more or less decided that I would be seen every two weeks until 30 weeks. Dr. Redcay gave me the option of every two weeks or every four weeks. She said that most times, appointments are set every two weeks more for peace of mind of the expectant parents than anything else. Because my schedule is so crazy between now and the first week of June, and because this isn't the period of time that we really need extra peace of mind, I elected to schedule the next two appointments four weeks apart. That leaves our appointment line up looking like this ... Monday, March 15th - Ultrasound as part of the 1st trimester screen; Monday, April 5th - midwife appointment; Tuesday May 4th - 20 week ultrasound and midwife appointment.
All continues to be well at this point and there is really nothing else to report at this point. Thanks for checking in!!
We had only met with Dr. Redcay for about 5 minutes during our pregnancy with Gracie, so I wasn't sure what to expect. I had really good conversation with her yesterday about Gracie, as well as this pregnancy. During our appointment with Dr. S. it was more or less decided that I would be seen every two weeks until 30 weeks. Dr. Redcay gave me the option of every two weeks or every four weeks. She said that most times, appointments are set every two weeks more for peace of mind of the expectant parents than anything else. Because my schedule is so crazy between now and the first week of June, and because this isn't the period of time that we really need extra peace of mind, I elected to schedule the next two appointments four weeks apart. That leaves our appointment line up looking like this ... Monday, March 15th - Ultrasound as part of the 1st trimester screen; Monday, April 5th - midwife appointment; Tuesday May 4th - 20 week ultrasound and midwife appointment.
All continues to be well at this point and there is really nothing else to report at this point. Thanks for checking in!!
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