Sunday, October 2, 2011

1:300,000 those are odds I can get behind!

There was a bit of a scare this week in the Warnke family.  Because of her hypothyroidism and advanced age (who knew 30 was advanced), Karla has been seeing a specialist in the high risk OB clinic at the University of Iowa.  Because she is now on medication to regulate her thyroid hormone she has to have a fetal ultrasound every four weeks to make sure that little PJ is growing appropriately.  Apparently if mom is shrinking you can't use belly measurements to keep an eye on the fetus. At her appointment on Monday Karla received some scary news.  During the ultrasound the sonographer noticed two choroid plexus cysts in the right brain hemisphere. While these cysts are sometime benign they can also mean chromosomal abnormalities, especially if the risk factor from Mom is elevated.

Karla was understandable upset when she heard this news, especially when it was paired with the nurse telling her that she has two weeks to terminate the pregnancy. Now Karla and Justin had talked about the possibility of something like this happening and decided that as long as Karla wasn't at risk that termination would never be an option. However, she wanted more information.  If  the doctors were talking termination did that mean that there was no hope for a healthy baby? What should she expect when or even if little PJ arrived? Her nurse, who I'd like to someday find and shake really hard briefly mentioned trisomy 21 (Down's syndrome), spinal gap (which I assume is the spina bifida family) and then went into a huge discussion of trisomy 18 (which is really, really bad).

After Karla heard 35 minutes of how her baby probably won't make it to term and if he does his median life expectancy is 15 days she was a wreck.  Her doctor finally came in and asked if she'd like to do a blood draw to see what maternal risk factor for any of these three chromosomal was?  After the results of the blood test came back the doctor said that they could move ahead with an amniocentesis if it looked like her risk factor was high.

Don't get me wrong, I work in the medical field and I understand the importance of giving patients and families all of the facts and not candy coating the bad stuff.  However, scaring the hell out of a hormonal woman is not OK.  They told her that it could be benign, yes, but what they didn't tell her is that in the absence of any other indicator or risk factor of genetic issues that there is a very, very weak correlation to these cysts and one of the three issues mentioned above. You would think that this would have come up at some point given the fact that PJ, besides these two cysts, is perfect. He is growing and moving as he should be.  His heart is good, his limbs are good, his liver and kidneys and everything else that they can see at this point are good. Even without her blood tests his risk of anything chromosomal would appear to be low.

Anyway, she got her blood test results back which give her a 1 in 300,000 risk of having a baby with any of the previously mentioned abnormalities, the chances are that we will have a very healthy baby sometime in February. It was just a really long week waiting for that call from the doctor and it didn't have to be as tense for them, or the rest of the family, as it was.  I get not wanting to give false hope to a family but at some point why not employ the wait and see policy before you scare the crap out of someone.  Anyway, the news was good in the end.  Hopefully the cysts are gone by week 32, if they're benign that's normally the point that they're gone.  I just want Karla and Justin to have a perfect baby, not that they or we would love a baby with a medical problem less but I just want the best for them.

Alright, I need get my butt in gear so I can enjoy some of this beautiful day.  Have a wonderful week ladies!

2 comments:

  1. Wow I'd like to shake that nurse too. Apparently appropriate beside manner isn't required anymore in the nursing field. It's fantastic that Karla got promising news. It always scares me when I sit back and think about all the issues that occur during development thanks to our complex genetics and DNA set up. It's actually amazing that so many babies are born healthy considering the abnormalities that occur or the side effects that can occur due to life style or environmental factors. It still surprises me that her age makes her at-risk too. So much has changed since I popped a kid out years ago.

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  2. Wow, that would be a terrifying experience. I agree that the risks should be shared with the expecting parents, but it sounds like the nurse made it sound like the odds were a lot worse than 1:300,000. I think pregnant mothers worry enough the way it is. Plus, I bet after that doctor visit, she's still really worried. I hope the good news continues.

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