Note to self: don't let geneticists examine my hands
I had the consultation this morning. There is good news and bad news and then waiting-for-news, so we'll start with the bad news and get that out of the way.
The bad news: So after I was done with the consultation with the genetic chick, she took a full family history and then said, "Okay, I'm just going to run this by our senior geneticist, and if Dr C has any questions then he'll come in to talk to you." Dr C came in about five minutes later, followed by another senior geneticist. He said cheerily, "So, you have pectus excavatum and mitral valve prolapse. May I see your hands?"
Me: Uh, okay.
Dr C: *takes my hands, fiddles with my fingers, bending them in all the unusual ways that most people's fingers don't bend* Hyperextensible! Can you do anything with your elbows?
Me: Sure. *demonstrates wrapping arm entirely around front and back*
Dr C: Okay, we're going to need to get you a full physical exam, send you for an echocardiogram, and an eye exam.
Me: What? I just had an echocardiogram two years ago.
Dr C: Why?
Me: I wanted to see if the pectus excavatum had deformed my heart so I requested an echocardiogram. They found very minor mitral valve prolapse and no heart deformity.
Dr C: Well, you're going to need to get echocardiograms every two or three years for the rest of your life. You probably have Ehlers-Danlos Syndrome. We'll have to do more testing.
[cut for discussion of risks involved in Ehlers-Danlos Syndrome - basically he's most nervous about aortic enlargement and risk of aortic rupture]
Dr C: So we'll get you examined within the next month, and if you do have enlargement of the aorta, we're going to have to follow you as a high-risk pregnancy. If you don't have enlargement, I suppose you will continue with your plans?
Me: Yes.
[cut for brief discussion where Dr C tries to gently convince me that unassisted birth isn't a good idea, and I smile cheerfully at him and tell him it's something I feel very strongly about, and he gives up]
Dr C: All right then, we'll see you in January. *shakes hands and leaves*
So, that's the bad news. I might have some freaky-ass syndrome that would result in my heart possibly spontaneously exploding. (Note that I said "might". Having examined the other symptoms of EDS, I don't think I have it. Yes, I have the joint hypermobility, my mother has eye problems, and I am tall and skinny. But I don't have fragile skin, or muscle/skeletal pain, stretchy skin, easy bruising, etc. In theory I could have "Hypermobility Type EDS", as the only major sign of that variant is the hypermobility; but dislocations tend to be frequent for people with that, and I almost never get dislocated joints.) Meh, more testing in January to "look forward to"; it's a good thing I live in a country with socialized healthcare because otherwise I could never afford all these tests.
Now, the good news. I stayed up all night indexing every single Medline study (published worldwide in 2000 or later) on the subject of choroid plexus cysts (CPCs), and I reached the conclusion that the current research supports the idea that if there are no additional risk factors beyond the CPCs, and maternal age is under 35, the risk of amnio outweighs the risk of having a fetus with Trisomy 18. Also, the studies have found ultrasonography to be 77% to 100% effective at picking up physical anomalies in Trisomy 18 fetuses.
So I went in there today armed with that info. Turns out the genetic counselors had the same assessment, and what's more, they had information I hadn't been able to get (age-specific risk of Trisomy 18). So: with the presence of CPCs but no other anomalies, at age 28, my risk of the fetus having Trisomy 18 is 1 in 3614. If other structural anomalies were detected on ultrasound as well, that risk increases to 1 in 317.
My response to this was, "Send me for a targeted ultrasound and we'll decide, based on whether other fetal anomalies are present, as to whether it's worth risking the amnio. If no other fetal anomalies are found, I'm considering this fetus good to go and we'll cancel the amnio; if other anomalies are found, then we'll reassess it and decide whether to get the amnio or not based on how many anomalies we find."
I then had to get a blood test, which involved drawing FIVE VIALS of blood. FIVE. I despise needles and blood tests freak me out; I have NEVER had to get so much blood drawn before. But they're testing for everything under the sun, basically, including thalassemia (since I'm of Italian descent).
After getting all the blood drained out of me to fill those five vials, I was given a referral to a kind-of-nearby ultrasound clinic that does level 2 ultrasound scans; I trudged six or seven blocks over there, only to be told there would be at least a 90 minute wait, and probably closer to two hours. (Did I mention it was 11:30am by this point, and I'd been awake since 6pm the night before?) I walked to a local bookstore and bought a book that Frolic had requested for Giftmas. After that I got a smoked salmon sandwich (I <3 Druxy's), ate lunch, then went back to the clinic to wait.
Eventually I got called in. The ultrasound tech was nice but quiet; I started asking about specific things I wanted checked and he said, "You seem to know a lot about this," and I replied, "I was trained as a midwife," and that seemed to be the key words that opened it up. He started treating me as an equal rather than as a subservient patient, happily showing me whatever I requested. He didn't *tell* me anything about what he was showing me, as that would have been against the rules; but if I said, "Okay, show me the hands," then he would get a good view of the hands for me.
The reason I was so itchy to see the hands is because crossed fingers are characteristic of Trisomy 18. According to one study I came across, 93% of fetuses with Trisomy 18 will have the crossed fingers visible upon ultrasound examination; another study stated that in cases of plexus cysts where the fingers were not found to be crossed, the risk of Trisomy 18 was very low. So I really wanted to get a good look at the hands.
The tech managed to get me two good looks; one with hands fisted and one with a hand open. In both cases, I didn't see any crossed fingers; the bones were straight, next to each other without Xs. Hallelujah. :D
The waiting-for-news news: Now I have to wait to hear back from the genetic clinic, who are waiting to hear back from the ultrasound lab; the lab is supposed to put a rush on it so we get the results back today or tomorrow. Assuming no anomalies were found by the more in-depth ultrasound scan, then we're good to go, amnio gets cancelled and I can put this particular issue to rest. If additional anomalies were found, then I'll figure out a plan of action based on the new information and how that modifies the risk factors.
Overall, I'm feeling cautiously optimistic right now, due to the lowered risk (one benefit to having kids when you're younger, LOL) and also due to seeing those straight fingers; assuming no additional abnormalities are discovered, we're good to go. But I am tempering my optimism until I get a call from the genetic clinic telling me that no additional abnormalities were found.
The bad news: So after I was done with the consultation with the genetic chick, she took a full family history and then said, "Okay, I'm just going to run this by our senior geneticist, and if Dr C has any questions then he'll come in to talk to you." Dr C came in about five minutes later, followed by another senior geneticist. He said cheerily, "So, you have pectus excavatum and mitral valve prolapse. May I see your hands?"
Me: Uh, okay.
Dr C: *takes my hands, fiddles with my fingers, bending them in all the unusual ways that most people's fingers don't bend* Hyperextensible! Can you do anything with your elbows?
Me: Sure. *demonstrates wrapping arm entirely around front and back*
Dr C: Okay, we're going to need to get you a full physical exam, send you for an echocardiogram, and an eye exam.
Me: What? I just had an echocardiogram two years ago.
Dr C: Why?
Me: I wanted to see if the pectus excavatum had deformed my heart so I requested an echocardiogram. They found very minor mitral valve prolapse and no heart deformity.
Dr C: Well, you're going to need to get echocardiograms every two or three years for the rest of your life. You probably have Ehlers-Danlos Syndrome. We'll have to do more testing.
[cut for discussion of risks involved in Ehlers-Danlos Syndrome - basically he's most nervous about aortic enlargement and risk of aortic rupture]
Dr C: So we'll get you examined within the next month, and if you do have enlargement of the aorta, we're going to have to follow you as a high-risk pregnancy. If you don't have enlargement, I suppose you will continue with your plans?
Me: Yes.
[cut for brief discussion where Dr C tries to gently convince me that unassisted birth isn't a good idea, and I smile cheerfully at him and tell him it's something I feel very strongly about, and he gives up]
Dr C: All right then, we'll see you in January. *shakes hands and leaves*
So, that's the bad news. I might have some freaky-ass syndrome that would result in my heart possibly spontaneously exploding. (Note that I said "might". Having examined the other symptoms of EDS, I don't think I have it. Yes, I have the joint hypermobility, my mother has eye problems, and I am tall and skinny. But I don't have fragile skin, or muscle/skeletal pain, stretchy skin, easy bruising, etc. In theory I could have "Hypermobility Type EDS", as the only major sign of that variant is the hypermobility; but dislocations tend to be frequent for people with that, and I almost never get dislocated joints.) Meh, more testing in January to "look forward to"; it's a good thing I live in a country with socialized healthcare because otherwise I could never afford all these tests.
Now, the good news. I stayed up all night indexing every single Medline study (published worldwide in 2000 or later) on the subject of choroid plexus cysts (CPCs), and I reached the conclusion that the current research supports the idea that if there are no additional risk factors beyond the CPCs, and maternal age is under 35, the risk of amnio outweighs the risk of having a fetus with Trisomy 18. Also, the studies have found ultrasonography to be 77% to 100% effective at picking up physical anomalies in Trisomy 18 fetuses.
So I went in there today armed with that info. Turns out the genetic counselors had the same assessment, and what's more, they had information I hadn't been able to get (age-specific risk of Trisomy 18). So: with the presence of CPCs but no other anomalies, at age 28, my risk of the fetus having Trisomy 18 is 1 in 3614. If other structural anomalies were detected on ultrasound as well, that risk increases to 1 in 317.
My response to this was, "Send me for a targeted ultrasound and we'll decide, based on whether other fetal anomalies are present, as to whether it's worth risking the amnio. If no other fetal anomalies are found, I'm considering this fetus good to go and we'll cancel the amnio; if other anomalies are found, then we'll reassess it and decide whether to get the amnio or not based on how many anomalies we find."
I then had to get a blood test, which involved drawing FIVE VIALS of blood. FIVE. I despise needles and blood tests freak me out; I have NEVER had to get so much blood drawn before. But they're testing for everything under the sun, basically, including thalassemia (since I'm of Italian descent).
After getting all the blood drained out of me to fill those five vials, I was given a referral to a kind-of-nearby ultrasound clinic that does level 2 ultrasound scans; I trudged six or seven blocks over there, only to be told there would be at least a 90 minute wait, and probably closer to two hours. (Did I mention it was 11:30am by this point, and I'd been awake since 6pm the night before?) I walked to a local bookstore and bought a book that Frolic had requested for Giftmas. After that I got a smoked salmon sandwich (I <3 Druxy's), ate lunch, then went back to the clinic to wait.
Eventually I got called in. The ultrasound tech was nice but quiet; I started asking about specific things I wanted checked and he said, "You seem to know a lot about this," and I replied, "I was trained as a midwife," and that seemed to be the key words that opened it up. He started treating me as an equal rather than as a subservient patient, happily showing me whatever I requested. He didn't *tell* me anything about what he was showing me, as that would have been against the rules; but if I said, "Okay, show me the hands," then he would get a good view of the hands for me.
The reason I was so itchy to see the hands is because crossed fingers are characteristic of Trisomy 18. According to one study I came across, 93% of fetuses with Trisomy 18 will have the crossed fingers visible upon ultrasound examination; another study stated that in cases of plexus cysts where the fingers were not found to be crossed, the risk of Trisomy 18 was very low. So I really wanted to get a good look at the hands.
The tech managed to get me two good looks; one with hands fisted and one with a hand open. In both cases, I didn't see any crossed fingers; the bones were straight, next to each other without Xs. Hallelujah. :D
The waiting-for-news news: Now I have to wait to hear back from the genetic clinic, who are waiting to hear back from the ultrasound lab; the lab is supposed to put a rush on it so we get the results back today or tomorrow. Assuming no anomalies were found by the more in-depth ultrasound scan, then we're good to go, amnio gets cancelled and I can put this particular issue to rest. If additional anomalies were found, then I'll figure out a plan of action based on the new information and how that modifies the risk factors.
Overall, I'm feeling cautiously optimistic right now, due to the lowered risk (one benefit to having kids when you're younger, LOL) and also due to seeing those straight fingers; assuming no additional abnormalities are discovered, we're good to go. But I am tempering my optimism until I get a call from the genetic clinic telling me that no additional abnormalities were found.