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newborn screening

post #1 of 21
Thread Starter 
We got the test results from my little sweet Patrick's newborn screening PKU. Of course i was not expecting to hear anything once the heel stick was over. I mean, no one ever hears anything, right. The genetic disorders that are tested for are so rare.

So we got a call that patricks PKU showed that he had a VERY rare liver disease. It's like 1 in 60,000. I had to immediately switch him to soy formula and stop nursing him. This has been so hard. I am pumping and holding onto a bit of hope that the further testing done will show that the first test was wrong and I can go back to nursing again.

He has been doing a lot better since we put him on the soy. It breaks my heart that this could be a reality.
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post #2 of 21
I'm sorry, that must be so hard in so many ways
post #3 of 21
Oh no, I am so sorry.

You said he was doing better, what are the differences you are noticing? I have never talked to anyone that actually got a call back on this so I am just curious.
post #4 of 21
Thread Starter 
he was not gaining weight. also, he was spitting up bm really bad. and overall seems more comfortable and content now. her also was not pooping. now he is.
post #5 of 21
You might want to re-test...I've heard they can be wrong?
post #6 of 21
Oh no How scary that must be. I always thought that test was just a screening though, and that there are lots of false "positives". You mentioned further testing.. will you get the results soon? I hope it all works out
post #7 of 21
and all the good vibes I can send that everything turns out ok.
post #8 of 21
Thread Starter 
the state does retest the positive test and also recommends a new test with a new heel stick. so we did that. we are waiting and will get the results monday. and then i guess we wil go for more test if that one is still positive.

thank you all.
post #9 of 21
oh no, I'm so sorry!! hopefully the retest will show a mistake!
post #10 of 21
I'm sorry to hear this.

One thing you might want to ask your doctors if it is confirmed is the possibility of partial breastfeeding, there might be something about this on the LLL website as it's in their magazine that I've read of things like this. It's hard work as it generally involves regular testing of the levels of whatever it is the baby can't deal with as normal, but it means they can get the benefits of breastmilk without being harmed. Obviously it will depend on which disorder it is.
post #11 of 21
Wow, what a shock for you. I'm really sorry.

Since you now are having to buy formula, I have been saving all the formula coupons that I have gotten in the mail. I'd be happen to send them to you. Some are as much as $8 off. I've got them for Similac, Enfamil and Good Start. I know it is so expensive. Let me know if you would like them.
post #12 of 21


How sad for you!

My DD has also has a rare liver disease. I was able to nurse her, but she had to have major surgery at two weeks, and faces a real possibility of a transplant her whole life. I really sympathize!

I would second the thought of asking about partial nursing. Is there a level of milk that he can handle? What are the consequences of feeding him milk?

There is always the possibility that the test is false, but if it is not, and you have to feed him formula, he is still going to be your sweet little baby who you can hold and feed, and thank goodness you will have access to food that will allow him to grow and thrive.
post #13 of 21
Quote:
Originally Posted by amandaleigh37 View Post
Oh no How scary that must be. I always thought that test was just a screening though, and that there are lots of false "positives". You mentioned further testing.. will you get the results soon? I hope it all works out
I have heard these things are notoriously false positives. I hope you can pump and keep up your milk supply until the condition is totally verified.
post #14 of 21
Any news?
post #15 of 21
Thread Starter 
i am sorry. i have not had much time to get online. my life has hit crazy mode since the baby was born, go figure.

the retest results took over two weeks! they were normal. thank goodness. my supply was a little low i guess. he stayed attatched to my breast for the first 3.5 days after i started nursing again. this is the 5th day, and it is better now. yesterday he was doing really good and seemed satisfied.

we are having a slight nipple confusion issue. but that too is getting better with more nursing sessions, i think.

thank you for thinking of me.
post #16 of 21
So glad to hear the result was normal and you get to nurse again! :
I hope life is getting back to normal!
post #17 of 21
I'm so glad to hear the retest came back negative! What a stupid thing to have to wait 2 weeks for it given that you were told to stop bf'ing. That could have been a disaster if you hadn't pumped. Feh.

I'm very happy Patrick is doing fine now!
post #18 of 21
Oh Yay!! That's such good news!: So sorry about how long it took to retest. That's awful.
post #19 of 21
Yay! I am so glad. ::
I went through the same thing and had some latch issues too. It gets easier, just don't give anymore bottles.
post #20 of 21
That's fantastic news!
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