I just got an automated call to confirm my 1st high risk OB appointment. Boy, I'm a problem waiting to happen, and this OB has no idea what he's getting himself into! At least, he'll be more familiar with dealing with tough cases! I'm trying to remember how many chronic conditions I have. It's the combination of AMA, as it's known to genetic counselors (advance maternal age), and psoriatic arthritis (PsA) that is landing me on his doorstep. I'm actually quite relieved to have the added care. I was hoping my RE would suggest it, but my rheumatologist wound up being the source of referral.
I wonder what will happen during this first visit. I'll be a few days early for first trimester screening, I think. I am really anxious to see the results, anxious in the eager sense, and anxious in the nervous sense. Being my age, I know that my risk just keeps increasing everyday for a chromosome abnormality. There are very few that can survive--Trisomy 21 (Down syndrome) and sex chromosome problems. Sometimes 13 and 18 can survive, but they really aren't able to interact socially. The screening test primarily looks for Trisomy 21 and 18. When I was in genetic counseling school, they were just starting to do ultrasound screening to measure nuchal translucency as a screening for Down. Basically, they are measuring the accumulation of fluid behind the baby's neck. It's done before week 13 because that is when the lymph system develops and takes that fluid away. It apparently has good predictive value. When I was training, I believe it was accompanied by biochemical blood tests for beta-HCG and PappA, and now I think they only do one (beta-HCG?) as the predictive quality is so good.
I've already prepared myself for a baby with Down syndrome. When I was in the genetic counseling program, I used to volunteer to help with the Buddy Walk. Children with Down syndrome are just as sweet as can be, for the most part ;) I've met some amazing little ones in clinic, including a precious little girl--I hope I'm not saying too much. I walked in to see this beautiful little toddler all dressed in pink. Before the MD (I've worked with some amazing dysmorphologists...) came in, I told the mother that she would need to undress the toddler down to her diaper. As she undressed her, she was telling me about how the baby nearly died because she had not been diagnosed with Down syndrome <WOW, how did the pediatrician/PCP miss it?!?>. They air-lifted the baby to an <unnamed> hospital who immediately knew she had Down and fixed her right up. Anyway. I looked over at the little girl, and she had a wonderful smile on her face. She pooched her belly out and was rubbing it frantically. I turned and gave a strange look to her mother. She smiled and said, "She's rubbin' her punkin'. She gets that from her daddy." I laughed and said, "Oh, okay." <My dad's fave nickname for me was punkin', not sure if I told her that.> She continued, "We're proud of that belly. We worked awful hard to get that pumpkin' to grow." I left the exam room and saw her father sitting outside, who had an um, er, rather large punkin'. He looked up at me. And I said, "She was rubbin' her punkin' for us," and he just grinned from ear to ear. What a lovely family. They understood. What we really want are happy, healthy babies. Oh, and now the pregnancy hormones are kicking in, and I'm fighting tears. <Well to be honest, I can’t blame the pregnancy hormones. This story usually makes me misty-eyed.>
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