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.