Abnormal Newborn Screen Results? Talk me down.

[Deleted]

We got a call last week that our NST came back abnormal with borderline high PKU levels. The doctor had us go take it again and told us not to worry, that it was probably the result of the antibiotics he was on after delivery (I had a fever). 

I just got a call from the doctor asking us to take a third test because the second one came back abnormal as well, but she wanted to confirm because both tests were taken when he was less than 7 days old. 

So we are going to go get another NST done - but I'm freaking out. This will be the third one. I don't want something to be wrong with my baby. 

Anyone else had/having this experience? And if you haven't, mind tossing up a prayer or some good vibes that it's all going to be okay and his stuff was just elevated from the antibiotics? I'm kind of wigging out over here. 

[carissa325]

No experience but I'll be praying!

[rosetyler72]

Scary! You'll be in my prayers.

[azurestar]

No experience but you will be in my thoughts and prayers.

[adorebel]

Oh gosh @pugsandwine just saw this. I will be praying for you all. Do keep in mind that a lot of tests on newborns are over sensitive and unreliable, and that there are a lot of solutions for almost any problem with an otherwise healthy newborn. I'm sorry you're having to go through this.

[jewel441]

Hugs! No experience with this, but seconding that there is lots of over sensitive tests for newborns. Fx everything is totally fine.

[FunniBunni]

Big hugs! I hope all is well with LO.

[megrae12]

Big hugs, love. I do not have any experience with this, but I will be praying for you.

[Deleted]

Thanks guys. We will know more after his pedi appt tomorrow - will update then.

[SheilaTheTank]

Omg! So many hugs and good vibes. The good thing is that the doctor is on top of it and of god forbid he does have PKU it's highly manageable if caught early. Try to breath and whatever you do dont google!

[kendraj426]

Oh no! Sending lots of hugs and good vibes. And I second what SheilaTheTank said - don't google!

[songbirdsinging55]

Sending positive thoughts and prayers for you.

[Sammich_Cat]

Praying for you and your little one. Big hugs.

[Deleted]

@pugsandwine - I am being a total super creepy lurker.

My mom went through a similar issue with my brother. His initial test indicated he possibly had PKU, but after a couple more bloodtests they were able to rule it out. This was back in 1985, and other than being really weird he's ok.

I'll keep my fingers crossed for you that his new test come back normal. If not, there are some ladies with PKU who are active on various boards and may be great resources for you.

[sctiger]

Hope you get reassuring news at your appointment!

[Deleted]

Mar 23, 2016 23:28:12 GMT -5 @wallflwr926 said:

@pugsandwine - I am being a total super creepy lurker.

My mom went through a similar issue with my brother. His initial test indicated he possibly had PKU, but after a couple more bloodtests they were able to rule it out. This was back in 1985, and other than being really weird he's ok.

I'll keep my fingers crossed for you that his new test come back normal. If not, there are some ladies with PKU who are active on various boards and may be great resources for you.

Thanks so much, Wallie. This made me feel a lot better.

[Deleted]

Mar 24, 2016 0:43:12 GMT -5 @shakeyjakey said:

Fx it was a false result! What time is your appt?

845a centeal

[adorebel]

Updates? Thinking of you, @pugsandwine

[Deleted]

Hey guys - sorry, today has been crazy busy. I'm exhausted and about to go to bed till feeding one, but wanted to update real quick.

We met with the pediatrician today as well as got his third test done today.

The pediatrician said we will need to see a geneticist so we are waiting on confirmation for that appointment. At that point we will have to do a full genetic screen on Miles, regardless of what the third test says (So why do the third test? I don't even know). The genetic screen will ultimately confirm whether he has PKU, some other metabolic disorder, or is totally fine.

The doctor said she thinks it's very rare and unlikely that Miles has it - it's such a rare disorder and we have no family history or even knowledge of it on either side. She said it is a possibility, though, which is why we are moving forward with genetic testing.

Apparently it can take weeks to get an appt with a geneticist, though... so we are in a holding pattern. While we will have the answers to his third NST next week, we won't have any more info than that for up to a couple months.

TL;DR: We don't have any more info - it's 'wait and see' for several weeks. We are staying positive, though.

[adorebel]

Glad to hear you are feeling positive, but I'm so sorry you have to live with the worry for longer. We are all rooting for you, Miles!

[Sammich_Cat]

I'm so sorry that you have to wait so long for answers.

From what I understood from your post you are definitely going to do the genetic test, yes?
If so, have they already taken the sample and sent it off for testing? Is it possible to do so? That way you can discuss the results with the geneticist instead of waiting longer to get results afterward. I work in genetic clinical testing and our turn-around time can be a couple weeks or longer(though our test is very detailed). I just don't want you to be waiting longer if it's not necessary.

[jewel441]

Sorry you have to wait. Fx everything is ok! Hugs! Hopefully it doesn't take that long to see the geneticist

[Deleted]

We got our Genetics Appt!! Please keep us in mind on Thursday at 8:15am! We are finally going to get some answers!

[SheilaTheTank]

Apr 4, 2016 16:09:34 GMT -5 @pugsandwine said:

We got our Genetics Appt!! Please keep us in mind on Thursday at 8:15am! We are finally going to get some answers!

Hell yeah! This Thursday?

*makes note in calendar*

[Deleted]

Yep!

[Deleted]

I feel like such an idiot. We got there to find out the appointment is next Thursday (the 14th), not today.

I broke down sobbing in the parking lot. I was so so looking forward to getting answers today and felt so so disappointed and stupid.

Another week of waiting...

[mom2boxers]

Hugs. Totally understandable. You're not an idiot. So easy to confuse dates especially while getting the hang of this "mom" thing.

[blackbird]

(((hugs))) pugs!! Hope the next week goes by quickly, and you get answers!

[jewel441]

All the hugs! Sorry you have to wait another week.

[paloslee]

@pugsandwine sending positive thoughts...hugs!