2nd Appointment Details

OB appointment: This was a great, quick visit. I got in there and the little “cover up” blanket wasn’t on the chair, so I started going through all the cabinets. M told me to just go find a nurse and ask, but I know they have all the supplies in the room. I shuddered a little when I opened the drawer full of speculums, but then the huge stash of gowns was right there. Then M reminded me to hide my underwear.

The baby came right into view. I love seeing that heartbeat and the tiny arms moving around. Perfect. We got two pictures! When she measured the baby, we got 10 weeks, 1 day. I gasped a little and the doctor laughed at me – “No, look how the baby is stretched out!” You can see the difference in position in the two pictures.

So we’re looking good so far. She asked me if I’d be ok with waiting 4 weeks until my next appointment. I agreed, but only because I have the NT scan in the middle. That scan is on November 2 and my next OB appointment is November 12.

Wait, November 12? I must be out of my mind. On November 9, I will be 13 weeks. I lost my November baby sometime near the beginning of the 13th week. I’m happy to have the appointment close to that time so I can just KNOW, but then November 13th was my due date. So I again find myself with the possibility of some great heartache piled on top of some more heartache. I hope that’s not the case….

Ok, on to the CF genetic stuff. We spent over an hour with the people in that office. This group (headed by Dr. D) is developing screening tests for babies through the mother’s blood. Within the past 2 years, they have been able to separate out the baby’s DNA from the mother’s blood and screen for genetic disorders. This means no more invasive testing to confirm Down’s Syndrome or Trisomny 18 and 21 or Cystic Fibrosis. I’ve already decided I’m not going to get a CVS or amnio if M is a carrier for CF. There’s nothing we can do ahead of time and the 1 in 200 miscarriage risk is too much for me (even if the risk has been reduced to 1 in 1600 for an amnio and 1 in 400 for the CVS). I’m not ruling out the tests for other problems, just not for CF.

So, back to the doctor. They started off with all the forms. My main concern had been about them requiring one of those tests, but they don’t. M had to swab his cheeks for the quick screening. Then they took blood from both of us (or tried). M went first. She got about 4 drops out of him and he turned gray and soaked in sweat. She had missed his vein. The poor nurse felt so bad. He needed about 20 minutes to recover. They ended up getting 8 more cheek swabs from him. He might have to go back next week if they can’t get his full DNA from that. Then she took 8 vials from me. I didn’t even flinch. I made sure to rub this is in at every opportunity.

CF has about 1600 different mutations. The screening offered to pregnant women looks for 20-30 of these mutations (the most common ones). I have DeltaF508, the most common of the most common. The cheek swab will only look for those same mutations. If he has one of those, ok. They are also testing him for the remaining 1570 mutations. In return for getting this done for free, I am giving blood samples throughout my pregnancy (hopefully).

Dr. D and his wife had 2 miscarriages before their daughter was born and then another before their son. He was kind to us and is going to have us wait until I pass 14 weeks to give any more blood. He doesn’t want any extra stress on this baby (or me).

I really believe in what he’s doing. Imagine all those women who get a high percentage chance back from the NT scan and then have to decide in more tests that could harm the baby. Soon they’ll have the option to know earlier, and more specifically, if anything is wrong. I do see the flip side – perhaps parents will see the results of this test and decide to end the pregnancy, even if it is a treatable condition.

But the good outweighs the bad. So many parents are faced with finding out about chromosomal problems when it is too late and their options are limited, restricted, or downright scary. I know it doesn’t make the decision any easier, but no one should have to fight for their rights when in the middle of so much grief. That’s why this is important to me.