PKU Results

Updated on January 06, 2011
T.M. asks from Midland, TX
5 answers

My newborn's second PKU test came back with a risk for Congenital Adrenal Hyperplasia (CAH). I stupidly started researching the condition on the internet and am totally freaking out. We are having her retested tomorrow, but I was wondering if anyone has dealt with this disorder or had a
PKU that came back with a false positive result? Every test I took while pregnant came back positive and I had to retest and wait for the results to find out the first result was just a false positive. But now we are dealing with my baby and I just don't want her to suffer.

What can I do next?

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B.Z.

answers from Houston on

Please, try to stay calm as much as possible.
I have now 8 months daughter. She was born here. I had very had emotional pregnancy.... At first, my doctor said at 6 weeks that my baby is too small, and it is possible miscarage again... At 8 weeks I had some heavy bleading... A lit part of uterus just was hurt (then I took on my hands my 2 years old :( )... After that 2/3 pregnancy I was told that it is 60 % miscarriage... They did lots of tests to me... All of them were coming positive (meant possible diseases), but then they did second recheck, all seemed alright. They started to tall me since 22 weeks that I will deliver any time!
I cried a lot. worry. read lots of on internet...
And finally my baby needed induction at 39 weeks! As I was too tired psychologically!
And final: I have super healfy, active and happy baby!

And don't read, till you will have 100% results. it is not worth to worry. I know how it is hard not to do it.

Hope you and your baby will be fine.
good luck!

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J.A.

answers from Seattle on

Hello. My name is J. Aleccia; I'm a health reporter with msnbc.com, the online news site. I'm writing a story about false positives in newborn screening and would like to talk to you about your experience. Is it possible to reach you? You can e-mail me at ____@____.com or call ###-###-####.

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V.L.

answers from Houston on

A friend of mine just had this happen to her last week same thing positive 2nd time for CAH. Final test results came back and all is well it was a false positive. I have a little baby who is 2 months old, and she has Galactosemia discovered via newborn screen. Whatever you do stop using the internet. Just have faith things will be okay. I looked up her condition, and it said she would die etc etc. Well she has the milder form, and will be fine in a couple of years after strict dietary measures are followed. I actually did lots of research and learned all about the newborn screens. They are very vulnerable to heat and humidity. There are more false positives in the summer months than any other time. Plus if the test was done wrong it can mess up the results.....we were holding on to hope when I researched all this. Just pray!!!

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K.R.

answers from Houston on

Well I am sorry that I cant be much help but I can give some advice. I am not sure what that is but I can tell you this. DONT RESEARCH ONLINE!!! All that will do is scare you to death. All I can say is try not to worry, I know it is hard with a newborn baby, but try to press into God. Just have faith that everything will work out for the best, and dont ever give up on God. Put your worries on him and ask for guidence through this time in your life. I know asking the big man upstairs will help you and your family. God bless you.
K.

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T.

answers from Houston on

I had the same exact thing happen with my last baby (she just turned one yesterday)! I did the same and researched about it, cried a lot and then prayed it was a false positive. They waited until she was 4 weeks, tested again, and then 8 weeks to test her one more time. The four week test also showed high numbers indicating she might have CAH, but at the 8 week test she came out completly normal. My pediatrician was soo good with everything. She basically said not to get excited. When the pedi did my baby's 2 week check up she didn't see anything strange about the genital area and when the first test came back she reassured me that the physical evidences (her gential area) show that there shouldn't be anything wrong (because she looked very normal down there). So most likely if everything looks normal, I would think she's normal. Good luck, I know the emotional roller coaster it can be waiting that long for a normal testing.

ps. She was 4 weeks early, via c-section, and she had IUGR as well as really low amniotic fluid...not sure if that can have anything to do with it, but I imagine when they're early their little hormones can be off.

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