Abnormal pku?

[scheelimama]

So, last week I got a call from the birth center that Piper's pku was not processed correctly and it had to be redone. So, we went in on Monday. Today they call me back and say that the test actually came back to them saying "unsatisfactory" which they assumed to mean it hadn't been processed correctly. At any rate, it had to be redone. But the government called them today to say that the "unsatisfactory" was actually because the amino acid levels were elevated and it was abnormal. I'm really, really hoping that the next test comes back normal, which is totally possible according to the nurse that I talked to. It could be a fluke.

But, being my 3rd babe, I haven't even found a ped. yet or taken her in. And now, I have to get a follow-up appt. with a ped. asap and get a referral to a pediatric metabolic specialist. Apparently, the sooner you start treating pku, the better. From what I read, I don't like the sounds of this.

So, has anyone else dealt with this? I thought the newborn screening was important, so we went ahead and did it even though we ended up having to pay out of pocket and hope the insurance company reimburses. But I never really imagined it would actually come back abnormal.

I think, besides the possibility of this being for real and having to treat and be on a restricted diet for life, I'm afraid that I may not be able to nurse her. I'll fight for that, I would be so bummed if I couldn't. This is absolutely the best nursing relationship I've ever had with one of my children! No problems at all this time. Anyway, no reason to worry yet, I suppose.

[GinaRae]

Just make sure you get yet another test when you get the follow up done. My nephew's came back abnormal and they started treating him for a thyroid problem with medication before getting the third test in -- which came back that he was just fine and the second test was wrong.

Hopefully that's the case for you too!

[renaissanceed]

Hugs Alisha! It sounds very similar to what happened to us. Silas tested positive on his newborn screens for one of the metabolic disorders (and it was a very high positive result). The second result came back fine though.

It was also very scary because, like you mentioned, we would have had to end nursing and the sooner that decision was made, the better. I didn't know what to do while we waited for the results of the second test, but chose to continue bf since he didn't really have many of the symptoms of the disorder that he tested positive for.

Is Piper gaining weight well? Does she have any of the other symptoms? If there is a high rate of false positives, and she has no other symptoms, you might want to consider continuing to bf at this point, but that is a decision you do need to make for yourself.

Keep us updated on the situation. It's very scary, I know, having just been through this.

[dubfam]

I am so sorry that you are going through this right now. How scary!

I bet everything will be fine, most of the time the positive results are wrong.

I found this web site with some good info, it might help you feel a little better.
http://archpedi.ama-assn.org/cgi/con...ABLEPOA90450T1

Good Luck and hopefully you get some good news really soon.

[Googy]

Hang in there. Keep in mind that the test taken at birth is a SCREENING. It isn't even really a test. Basically, it will label results as "pass" or "fail" but it doesn't diagnose anything at all. All it does is indicate the need for further testing in specific areas. Most babies who "fail" a section of the screening do NOT end up having the disease. Try not to worry too much until you have the specific test done.

[scheelimama]

Thanks ladies. I don't intend to quit breastfeeding. Even if she were to actually have this disorder, I would beg them to let me change my diet drastically first and see if that worked.

But I'm going to assume it was a false positive until I know it's not. But I still have to try to figure out how to get her in to a ped. quickly and all the ped's on base are not taking anyone. Ugh.

[Undercover Hippie]

Originally Posted by renaissanceed

Hugs Alisha! It sounds very similar to what happened to us. Silas tested positive on his newborn screens for one of the metabolic disorders (and it was a very high positive result). The second result came back fine though.

It was also very scary because, like you mentioned, we would have had to end nursing and the sooner that decision was made, the better. I didn't know what to do while we waited for the results of the second test, but chose to continue bf since he didn't really have many of the symptoms of the disorder that he tested positive for.

Is Piper gaining weight well? Does she have any of the other symptoms? If there is a high rate of false positives, and she has no other symptoms, you might want to consider continuing to bf at this point, but that is a decision you do need to make for yourself.

Keep us updated on the situation. It's very scary, I know, having just been through this.

Ditto to pretty much everything Edwina said. We went through this with DD and it was so scary. I kept looking at my very healthy 3-week-old DD, who was already smiling and holding her head up and growing so fast, and wondering if she could really have this and if I really could be hurting her every time I nursed her? But in the end, it was also a false positive.

Good luck and (((HUGS))) until you get some real answers!