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Will you do a PKU test for babe? - Page 2

post #21 of 86
Quote:
Originally Posted by ~Mom2thhts~ View Post
We will defintely do the test. Our 2nd dd came up positive for Galactosemia. With this disease I had to quit bf until the test results came back, which took 5 weeks. We had to go to a genetic doc and have the tests done. It came back that she didn't actually have the disease but was a carrier. Which will be good for her to know when she starts having her own children. My husband and I were both tested and he is the carrier.
Interesting to hear. That is one reason I consider not doing it. I don't want a false positive to make me stop breastfeeding.

-Angela
post #22 of 86
Quote:
Originally Posted by mommaJ View Post
Is it pretty straight forward to do the testing at home?
Yep, it's really easy. We've opted to do it after each of my dc's births but with the first two we did it at the hospital, then with my twins I realized my mw could do it so we did it at home. They warm the heel then prick it with a special device then squeeze the blood out until it fills up these circles on a piece of paper. If you nurse the baby throughout you probably won't have more than an initial little cry at the prick, if that. I've had 2 of my baby's not even notice aside from flinching initially. This IS a screening I feel is very important and I'm absolutely one to avoid intervention.
post #23 of 86

Pku.....or?

Yes, the name is confusing...originally that is what the test screened for...now it screens for a battery of tests in three areas...
Metabolic (chemical reactions), Endocrine (thyroid), and Hemoglobin (blood disorders).
In California it is called Newborn Screening Test. It automatically includes the expanded testing....about 100 different tests. If you think about it - it's a pretty good deal....
It would not be difficult to do at home. BUT, in California for Medical to pay for it, it has to be done in a LAB. Also, it is difficult for midwives to bill insurance for the test...the paperwork and coding is a nightmare....so beware of that.

Carla
post #24 of 86
I nursed with first the the prick.

Biggest mistake I made.

She came off the breast screaming. Poor baby was afraid to nurse for awile. She would start to latch on but come off crying as to afraid to nurse. Poor thing. The hospital lab did her prick.

Our next 2 babies where sound asleep and never woke up during the prick. Their blood clotted so well that the poor mw had a terrible time getting all the circles filled in. My mw was gentle and knew how to do the prick with the least amount of pain compared to the hospital which had no compassion for the baby what so ever IMO.
post #25 of 86
Our pediatrician forced us to go to the hospital and get this done, saying it was against the law for us not to have it done. My DD was 10 days old, and when we brought her in, they didnt want us in the room. We refused to leave, and they put her in one of those clear bed things for babies, and the woman pricked her heel. She kept squeezing her foot and making her scream harder, and it was so cold in there, and sooo blindingly bright for some reason. It took FOREVER and she screamed and screamed and screamed. It was absolutely horrible. I felt so bad for it, wondering if there was a better way.
post #26 of 86
My midwife does it at one of our home visits.

I nursed my babies through it and they didn't even stop nursing- same with the hearing test.
post #27 of 86
Quote:
Originally Posted by the_lissa View Post
My midwife does it at one of our home visits.

I nursed my babies through it and they didn't even stop nursing- same with the hearing test.

Did you have the hearing test done at home? How did that work?
They do it at the hospital here, but I have not researched having a way to do it at home. I assumed the maching would be expensive.

Carla
post #28 of 86
The hearing test is actually at the clinic at the 6 week visit (all postpartum visits are home visits, except the 6 week one here.)

Although if you don't want to do the test then or if your baby needs it redone, you can get it done at an auditory clinic here for free.

ETA: my first was a hospital transfer, but I still did the hearing test at the 6 week visit at the midwife clinic because my midwives said there is a really high false fail rate in the hospital since so many newborns still have fluid in their ears that can affect the test.
post #29 of 86
We did not skip this test/newborn screening. I feel it is important since (in Texas) they screen for a ton of different syndromes. Our mw did it at our 3 day visit & it was about $30.
post #30 of 86
Quote:
Originally Posted by mendomidwife View Post
The PKU should be done after the milk comes in, because some of the tests are looking to see how the baby metabolizes protein, and if the test is done too early, you could get inaccurate results.
Carla
See, I've heard this a few times, but I thought the tests were genetic in which case they shouldn't be affected by what has been metabolized. I would think the inaccurate result might be from it being done improperly (like in an example someone gave above with the baby's heel being squeezed)

ETA-- I finally found a source for the PKU I see that one tests for the actual phenylphaline(sp?) level in the blood. Nevermind. Wait I shall.
post #31 of 86
I found this interesting too-- it's the state by state privacy and refusal laws:
http://www.ncsl.org/programs/health/...ingprivacy.htm
post #32 of 86
Quote:
Originally Posted by Synchro246 View Post
See, I've heard this a few times, but I thought the tests were genetic in which case they shouldn't be affected by what has been metabolized. I would think the inaccurate result might be from it being done improperly (like in an example someone gave above with the baby's heel being squeezed)

ETA-- I finally found a source for the PKU I see that one tests for the actual phenylphaline(sp?) level in the blood. Nevermind. Wait I shall.

As you found, they aren't genetic. None of them are- even in the extended panel. They all test for specific compounds and such is my understanding.

-Angela
post #33 of 86
I felt the benefits of doing the test FAR outweighed the risk of the heel prick, so we did it without a moment's hesitation. The MW did it in our living room at about 1 week. DD slept through most of it. It was for one of those comprehensive batteries of tests. Honestly, I don't know what all it tests for, but I know PKU is a scary disorder. (I had a student several years ago with PKU. Her mom was instrumental in making the screening mandatory in Massachusetts hospitals. The 11-year-old girl basically lived on special formula and cucumbers, but was otherwise quite healthy.)
post #34 of 86
Quote:
Originally Posted by Ambrose View Post
So... would it be possible to essentially do the newborn screening on a toddler? My daughter is one of those "allergy" children with no positives to allergens. They did her PKU only a couple hours after she was born. Would it be feasible to do a pediatrix.com one and have relatively accurate results or is it strictly a newborn thing.
Yes. It is absolutely possible. You have to call Pediatrix directly. They have a 1-800 #.

Newborn screen does include many things in some states...more than just metabolic disease, as mendomidwife mentioned, so can include blood disorders (hemoglobinopathies).


Quote:
Originally Posted by ~Mom2thhts~ View Post
We will defintely do the test. Our 2nd dd came up positive for Galactosemia. With this disease I had to quit bf until the test results came back, which took 5 weeks. We had to go to a genetic doc and have the tests done. It came back that she didn't actually have the disease but was a carrier.
We know a mother here in town who came back positive for Galactosemia with her child. Her geneticist told her that she did NOT have to stop breastfeeding, but she had to fight for it. It turned out that her son had a rare, non-severe form, and was able to breastfeed.

In metabolic disease there are no pat answers. Everything is person specific. And you have to know who to talk to.

The other thing is that this was NOT a false positive. Again, in metabolic disease, carrier status IS important. Carriers are often affected AS IF THEY THEMSELVES HAD THE DISEASE. So....it is important to know for a variety of reasons.

Angela, saying you would be forced to stop breastfeeding is sort of like saying you would be forced to have the GD test. There is no reason that you couldn't keep breastfeeding while waiting for a galactosemia test to come back. 6 weeks will affect in the most severe cases, but ONE would see that in one's child.

In things like the actual disease PKU studies are showing that a combination of medical food and breastmilk are actually beneficial.

Again, metabolic disease is a new and smalllllll field. What is not known now, may be known tomorrow. And what is known now for treatment can change.

In most metabolic diseases it is actually very important that the child continue to breastfeed...

Quote:
Originally Posted by mommaJ View Post
i think we'll wait until a week pp and do it then.
You need to follow the directions of the lab who is running the blood work. If they say 3 days after birth, do it then. They are very specific about WHEN it should be done, even with children with siblings with a metabolic disease.


mv
post #35 of 86
Quote:
Originally Posted by Synchro246 View Post
See, I've heard this a few times, but I thought the tests were genetic in which case they shouldn't be affected by what has been metabolized. I would think the inaccurate result might be from it being done improperly (like in an example someone gave above with the baby's heel being squeezed)
Genetic testing is very expensive, and it is done after a positive screen OR with other symptoms/labs in the absence of a positive screen.

The metabolites being screened for in the newborn screening WOULD NOT BE ELEVATED by a the heel being squeezed.

Glucose, ammonia, lactate, these types of metabolites can be elevated by improper performance of a test, but these are not part of the metabolic screening done on newborns.
post #36 of 86
Quote:
Originally Posted by alegna View Post
Interesting to hear. That is one reason I consider not doing it. I don't want a false positive to make me stop breastfeeding.

-Angela

Hi Angela ~ it wasn't a false positive as she is actually a carrier of the disease. Which, could affect her children if her husband is a carrier as well. Thankfully only my husband was a carrier. Also, if you do get a positive they test it again to make sure before you go to a geneticist.

Mamaverdi ~ That is so weird that 2 geneticists would say completely different things. I was told that the lactose in my bmilk and any milk could cause my child to die. So we were told to put her on soy formula. I hated putting her on formula. I honestly felt that she didn't have the disease, as she didn't show any signs of the disease except for the test. Looking back I would do the same thing because at the time that was all the information I had. I felt guilty if I did bf her and she had the disease and I also felt guilty because I knew how unhealthy formula, especially soy, was for her.
post #37 of 86
Actually different geneticists say many different things. There is 1) no party line in genetics and 2) most geneticists are NOT metabolic geneticists.

There are now corn or other bases for galactosemia formulas. The woman whose geneticist said go ahead and nurse him was very concerned about soy formula for her baby...since he had been doing so well before the screen came back. I'm not sure if they took other precautions or what.

Here is a pretty good description of galactosemia.
http://www.savebabies.org/diseasedes...lactosemia.php

Notice how the numbers vary so much. I'm wondering how it is that just your husband is a carrier? I thought it was autosomal recessive.
post #38 of 86
Direct quotes from Houston geneticists (including a metabolic specialist):

*Metabolic disease has nothing to do with what you eat!
*What's the rush for a diagnosis?
*There is nothing you can do to treat a metabolic disorder.
*Skin biopsies can only be done when you are ill; otherwise you won't get good results.
*You must have documented hypoglycemia to have a fatty acid oxidation disorder.



All of these statements are FALSE.



So who knows. Maybe the geneticist who told her go ahead and breastfeed the baby didn't know what he was talking about. Either way, one can get the testing AND make an informed decision about the results.
post #39 of 86
we did it (it's "mandatory") at 1 week with all babies, at the MWs office, it's more expensive that way, but also nicer for the baby. The hearing screens (now also "mandatory" here) were done with a differnt MW who has the hospital's machine. We were able to nurse through that.

My babies are too sleepy to nurse through the PKU
post #40 of 86
Quote:
Originally Posted by mamaverdi View Post
I'm wondering how it is that just your husband is a carrier? I thought it was autosomal recessive.

Edited: I think I just realized what the confusion might be. Autosomes are the non-sex chromosomes. He has functioning gene on his other chromosome.
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