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#31 of 44 Old 06-09-2009, 02:18 PM - Thread Starter
 
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when my first was born, he only had to have one PKU test in the hospital...speaking of which, I just HATE the fact that they never tell you about these things ahead of time. Honestly, the first i heard about it, was after they brought him to me with a big bandage on his foot...which still bled, by the way and was very irritating...believe it or not...it was the same foot with the ID band! So the ID band had blood on it! COME ON!

When my second was born...she had one done in the hospital...and then they required a second test a week later. That is the only test I'd ever witnessed, and no, they did NOT warm the heel...they did not hold the leg veritically (so as to draw more blood out quickly). They held my baby down and squeezed the begeezes out of her tiny little heel! Maybe i should just use a different lab next time!
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#32 of 44 Old 06-09-2009, 02:52 PM
 
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Originally Posted by nashvillemidwife View Post
Are there really people out there trying to poke babies without warming their heels first? That's the recommended way, included in every training I've ever been to. Only difference is that the hospitals and doctor's offices use special disposable heel warmers whereas I use a bowl of warm water or a diaper.
My ped's office uses a diaper.
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#33 of 44 Old 06-09-2009, 04:41 PM - Thread Starter
 
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How does a diaper warm the heel? not being sarcastic, just curious!
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#34 of 44 Old 06-09-2009, 05:22 PM
 
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They have a great lancet, called the NeatNick. One poke and you'll get all the blood you need (we have to fill 5 circles, which screens for over 40 disorders). We warm the baby's heel first and do it all in mom's arms.
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#35 of 44 Old 06-09-2009, 07:20 PM
 
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How does a diaper warm the heel? not being sarcastic, just curious!
It's doesn't, unless it's full of hot water.
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#36 of 44 Old 06-11-2009, 04:41 PM
 
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Our midwives did the test themselves, a week after the birth. This sort of thing may vary from state to state (we are in Vermont). I really wish I had researched this more before my first birth too - because I only realized years later that my dd1 (my only hospital birth) had never been properly screened. They did the test too early, before she had had time to digest her first feedings properly. Fortunately, she is fine. But I feel like my mws knew a lot more about what they were doing than the hospital staff did! Plus, doing it at one week is so much easier on the baby.

If you follow all the suggestions about making sure baby is hydrated, warming the foot, and nursing through it the test is really not so unpleasant for the baby - one of mine didn't even cry.
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#37 of 44 Old 06-11-2009, 05:07 PM
 
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We don't do the PKU heel test... but we do do the Urine test on day 21...


better and more precise results without any invasive treatments.

I am not sure though if the Urine test is available everywhere though.... but it would be a good alternative.

 
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#38 of 44 Old 06-11-2009, 07:36 PM
 
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We don't do the PKU heel test... but we do do the Urine test on day 21...


better and more precise results without any invasive treatments.

I am not sure though if the Urine test is available everywhere though.... but it would be a good alternative.

what about the other metabolic diseases? are they all screened for via urine? or are they only looking for PKU? years ago the Guthrie test was done to find a small number of metabolic/genetic disorders since that time things have changed and the newer methods allow for many other metabolic disorders to be looked for-
here is a web site you can reference-
http://genes-r-us.uthscsa.edu/
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#39 of 44 Old 06-11-2009, 07:49 PM
 
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what about the other metabolic diseases? are they all screened for via urine? or are they only looking for PKU? years ago the Guthrie test was done to find a small number of metabolic/genetic disorders since that time things have changed and the newer methods allow for many other metabolic disorders to be looked for-
here is a web site you can reference-
http://genes-r-us.uthscsa.edu/
The test is for a whole array of metabolic diseases. The result are best if taken at 21 days so we get everything to do the test and send it ourselves.

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this urinary screening test was initiated in the Province of Quebec in the early seventies; it is one of the few programs that exist in the world. It allows the early detection of organic acid disorders, or other disorders which could have been missed by the blood tests done during the first week of life if the protein intake was insufficient to reveal a metabolic block.
http://atlasgeneticsoncology.org/Edu...ID30056ES.html

 
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#40 of 44 Old 06-11-2009, 08:56 PM
 
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If you write to your state health department you can request a test kit. I don't know how it varies state to state. I'm in CT and they send them to you for free.
My midwife has us request one as part of the birth kit so it's here when we need it. She does it at about a week after birth I think. With my second they added extra tests so I had to have him stuck again, I was mad about that. I told the nurse I would hold him and though she was kind of like "oh, no one does that" she didn't really have an issue with it.
This is one prick I won't skip.

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#41 of 44 Old 11-10-2013, 11:51 AM
 
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I am expecting our 6th child. I do not understand a lot about the difference between genetic disorders and metabolic disorders, however, from what I have read and can understand, that if none of these disorders are caused by the mixing of the parents DNA in the first child that it won't be present in any other children. Is this true? If so, why is each child, of the same parents, tested? I'm also a little suspicious about where all this genetic information is stored and what could be done with it....that's a lot of "information" on almost every single baby (in the US). 

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#42 of 44 Old 11-10-2013, 06:21 PM
 
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No, I have seen babies who have a disorder that their older siblings do not.


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13yo ds   10yo dd  8yo ds and 6yo ds and 1yo ds  
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#43 of 44 Old 11-17-2013, 02:10 AM
 
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I am expecting our 6th child. I do not understand a lot about the difference between genetic disorders and metabolic disorders, however, from what I have read and can understand, that if none of these disorders are caused by the mixing of the parents DNA in the first child that it won't be present in any other children. Is this true?

 

No. These disorders are typically recessive disorders. Here's how it works:

 

Each of us carries two copies of each gene, one inherited from each parent. A recessive disorder is one in which you need a gene for a particular job, but only need one good copy of the gene to do it. So, if you inherited a good copy of the gene from one of your parents and a faulty copy from the other, you won't have the disorder. However, you will still be able to pass on your faulty copy to your children, which means you're a carrier of the condition. Of course, if you do pass on the faulty copy but your child gets a good copy from the other parent, then they won't get the disease either, because their good copy of the gene will be enough.

 

So, to have a recessive disorder, a person needs to get two copies of the faulty gene - i.e. get a copy from both parents. Typically, this happens when two carriers have a child together and each pass on their faulty gene rather than the good one. However, it's completely chance which of your two copies of each gene ends up in which egg or sperm produced by you - half of your eggs/your partner's sperm will have the good gene and half will have the faulty gene. Then, of course, it's pot luck which egg and sperm join together to make the baby. So, if both parents are carriers of a faulty gene, the four possible scenarios are:

 

1. Both egg and sperm happen to have the good gene. Baby is fine.

2. Egg has the good gene, sperm has the faulty gene. Baby is fine, but is a carrier (won't affect them but may affect their children if they marry another carrier).

3. Egg has the faulty gene, sperm has the good gene. This works out exactly the same way as scenario 2.

4. Both sperm and egg have the faulty gene. Baby has the disorder.

 

This is complete chance with each child. It's like tossing two coins and seeing how often they both come down tails. On average, it's a one in four chance with each toss. But you could get lucky and avoid it lots of times in a row... and it might still come up on the next time. So, they have to test each baby.

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#44 of 44 Old 11-17-2013, 02:14 AM
 
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Secondly, she said that if BOTH parents are negative for PKU, then the baby won't have it. That definitely sounds simple...but maybe for the parents it's more than just a blood test for PKU, maybe it's a genetic test...does that make sense?

 

That's quite correct. If both parents have been tested for the PKU gene and don't have it, their baby cannot have it. However, genetic testing is a darned sight more complicated and expensive than doing a PKU test on a newborn, so you wouldn't normally test this way.

 

What's worrying me a little is that she would say something so potentially misleading and not clarify. I mean, I wasn't there for the conversation so maybe I'm misinterpreting it, but... was this in the context of whether your baby needed the PKU test or not? If she's using an argument like this to try to make out that babies don't need the PKU test, then that raises some worrying doubts about her knowledge base.

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