Elevated PKU in infants - anyone know anything about this?

jcc64 wrote: My sitter has a newborn whose pku levels have been elevated for 2 tests now. The ped ran a 3rd test , and if these results confirm an elevated level, she has been referred to a specialist. I know next to nothing about this situation, she asked me to run it by my brother, who happens to be away on vacation now. She is understandably nervous about this, is not a big internet user, and is looking for some info, reassurance, etc. Anyone have any experience with this?

booey2 replied: I don't have experience with it but I just found this thru a google search:

pku

Hope this helps.

jcc64 replied: Thanks. I'll pass it along to her.

Mom2Boyz replied: I know with the PKU test, they test for several different things. When Conners test came back, his drs office called me and told me that he had Galactosemia (one of the things they test for) and that I would have to immediatly stop breastfeeding, put him on a special diet etc.. I was completly terrified!!!! I called the ped who was on call, and she said that with him being a month old, and showing no signs of being ill to continue breastfeeding and they would retest him. They retested him, and again got an elevated result for the same thing. Turns out he is a "carrier" for the disease.
I hope everything turns out ok with her little one.

jcc64 replied: At this point, her baby is also asymptomatic. I think they are frustrated with the long wait times for blood test results- 3 weeks, when everything they read says that the disease will lead to mental retardation if left untreated. I would be the same way- if time is of the essence.
I will pass along your experience - maybe it will be of comfort to her. How was it eventually determined that he was just a carrier?

Mom2Boyz replied: I understand why she is worried!!! WHen you read about all of the problems that children with these diseases can have, it's terrifying.
By the time the second test came back abnormal, Conner was already 2 months old. His dr said if he had True Galactosemia, he would have been very very ill by that time. She told us at that time that he was a carrier. Which means it will in no way affect his health, but when he is older and is ready to have children of his own that he and his wife will both need to be tested before ttc. Since both parents have to have the defective gene to pass it on to their child.
We're now waiting for the results from Cadens PKU test. Their ped said that if it comes back abnormal as well (for galactosemia) that they will retest him as well. But not to worry too much since he is healthy and gaining weight.
I hope everything turns out ok for your friend. And hopefully it won't take forever for them to get the results.

jcc64 replied: Thank you so much for your reassurance. As it turns out, her dh's PKU levels were elevated as an infant as well, so he must be a carrier. I'm assuming that's what's going on for them, but I know it's very scary to wait for the definitive word. I hope you don't have another scare with Caden.

Sirax replied: A friends daughter has PKU, it is a very interesting to learn about first hand. I have seen his daughter on the brink of death (within 1-2 hours of death) just from not eating correctly. I went with them to one of the Dr's visits at a childrens hospital, saw irl the effects it can cause on a person who doesn't take the medication and eat correctly.

lisar replied:
My DD PKU test came back in a matter of hours. I dont know if it is cause she is in the NICU or what but they had them the next day when I got to see her for the first time. So it has to be possible. It might be where they are doing the test. I would hate to wait that long for any blood test expecially on my kids.

Lisa

MommyToAshley replied:
I don't know much about PKU, but I do know a little about blood work and hospitals. Being self-employed which meant being self-pay, I learned that you can send bloodwork out to a lab of your choice and you don't have to go through the hospital. Not only was this option cheaper for us but we got the results a lot quicker.... I guess less red tape?? The lab was just as credible as the other lab, but it was cheaper because they gave a self-pay discount and we didn't have to pay the hospital mark up. 3 weeks seems like such a long time to wait for results with a matter that can be life-threatening. Maybe your sitter could look into another lab instead of the one the hospital uses, but not sure how insurance deals with these matters. But, I would imagine that a blood test wouldn't run over $100.

Your sitter's baby is in my thoughts and prayers, please keep us posted.

Mom2Boyz replied: I was just curious what your friend found out about her baby. Hopefully it was nothing serious

jcc64 replied: She does have PKU, but as of right now, they are in a wait and see mode. They test periodically, and happily, her levels had dropped a little. The next hurdle will be when solids are added to her diet, so far, she has been exclusively bf, which is supposed to be the best course of action.
The unfortunate part is that her dh was just fired, and she now has no health insurance. It's so sad that she has to worry about her dd's health and future, with no foreseeable way to pay for her care. It's all so wrong.