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Old 02-14-2013, 01:45 PM   #121
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Re: anyone decline the PKU?

Please do not skip out on this test. My daughter did not get her PKU done until she was 6 months old(the peds missed her)Turned out she has congenitial hypothyroidism. Her endocrinologist was in shock that she was growing and hitting milestones-truly a miracle. Congenitial Hypothyroidism is the leading preventative cause of mental retardation. I cannot strsse how very important this simple test is!

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Old 02-14-2013, 04:18 PM   #122
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I've watched hundreds of real-life CSI type shows and they certainly don't need a vial of blood for DNA matching. They've used tiny droplets of dried blood from clothing stored for decades. And they don't even need blood for DNA, they use saliva, hair, etc. and it's just as accurate and less invasive.

OP- we didn't skip this with any of our kids. It's simple and just too important to pass up IMO. We didn't do Hep B, eye goop and debated on Vit K but he was born with what we were told was excessive bruising on his face so we ended up doing it but it turned out to be birthmarks! Haha
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Old 02-21-2013, 10:38 AM   #123
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I do have some friends of friends that felt that this test was another way for the government to keep control/catolog us. I guess some states keep the tests for several years in some big warehouse and some people think that they are useing this test to collect DNA.

I do not share their fears, but as I already said both the midwife I had in Oregon and the one I have here in Texas both said that they requomend the 2nd one over the first. They both said the first does not tell you much since it is usally done within hours of the baby being born before the baby has really learned to eat at all.

ETA: sorry I did not finish the page I was on before writing and I see others have already stated what I did about some states keeping the cards for what seems a longer then needed time.
I am currently dealing with an abnormal NB screening & the geneticist I spoke with & Internet state that the first screening done around 48 hrs is most accurate for measuring acyclarnitines because they show-up in a period of fasting. A baby can have a fatty acid oxidation disorder that will be flagged on the first test, but not the second (when baby's well-fed). So, it can be missed entirely until it's too late (death, organ damage). So, it's important to do both.
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Old 02-21-2013, 11:16 AM   #124
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Re: anyone decline the PKU?

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I am currently dealing with an abnormal NB screening & the geneticist I spoke with & Internet state that the first screening done around 48 hrs is most accurate for measuring acyclarnitines because they show-up in a period of fasting. A baby can have a fatty acid oxidation disorder that will be flagged on the first test, but not the second (when baby's well-fed). So, it can be missed entirely until it's too late (death, organ damage). So, it's important to do both.
Will the first still be useful if done within 12 hours of birth? At the birth center that I had my 2nd and 3rd at they did the first test before you went home, or before the midwife left your house. For most people this meant 3-12 hours after birth. Then they would leave you a card to take to your doctor to get the second one done by the doctor.

I did talk to my new midwife yesterday and she does the first at the 2 day appointment and the second at the 2 week, so we will be getting both this time.
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Old 02-21-2013, 11:49 AM   #125
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Re: anyone decline the PKU?

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I am currently dealing with an abnormal NB screening & the geneticist I spoke with & Internet state that the first screening done around 48 hrs is most accurate for measuring acyclarnitines because they show-up in a period of fasting. A baby can have a fatty acid oxidation disorder that will be flagged on the first test, but not the second (when baby's well-fed). So, it can be missed entirely until it's too late (death, organ damage). So, it's important to do both.
Some of the accuracy is up to how severe the disorder is. Some kids will test positive for a FOD well fed and others will only show it when they are ill. A child fasting is most likely to have a positive result.

I hope your baby is OK and you can get on top of this. FODs are not pleasant things to deal with, esp when most of the world have no idea what fatty acid oxidation even IS.
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Old 02-21-2013, 12:42 PM   #126
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Some of the accuracy is up to how severe the disorder is. Some kids will test positive for a FOD well fed and others will only show it when they are ill. A child fasting is most likely to have a positive result.

I hope your baby is OK and you can get on top of this. FODs are not pleasant things to deal with, esp when most of the world have no idea what fatty acid oxidation even IS.
Yeah I am taking her in to her 2 mo appt & hoping to get her tested. Her c16 levels were abnormal & depending on the state, they were either over, slightly over, or fairly over. This particular fod isn't even tested here, so I'm hoping the new ped will so I can worry a lot less.

We were told prob cpt 2 & more likely the adult form if she even has it.

Keep in mind her 2nd screen was "normal" so I would get both done!
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Old 02-21-2013, 12:43 PM   #127
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Yeah I am taking her in to her 2 mo appt & hoping to get her tested. Her c16 levels were abnormal & depending on the state, they were either over, slightly over, or fairly over. This particular fod isn't even tested here, so I'm hoping the new ped will so I can worry a lot less.

We were told prob cpt 2 & more likely the adult form if she even has it.

Keep in mind her 2nd screen was "normal" so I would get both done!
Might I add she would be "normal" in some states...
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Old 02-21-2013, 01:04 PM   #128
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Re: anyone decline the PKU?

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Yeah I am taking her in to her 2 mo appt & hoping to get her tested. Her c16 levels were abnormal & depending on the state, they were either over, slightly over, or fairly over. This particular fod isn't even tested here, so I'm hoping the new ped will so I can worry a lot less.

We were told prob cpt 2 & more likely the adult form if she even has it.

Keep in mind her 2nd screen was "normal" so I would get both done!
I assume you have found the FOD support site?

These kids are generally fine when they are well, that is the issue, when they get ill and don't eat parents don't see it as a big issue which quickly can become one.

It may be worth speaking with genetics, the ped likely knows nada on the subject. and google has a wealth of info on the subject.

feel free to PM me too, I sadly know too much on the subject.
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Old 02-21-2013, 01:06 PM   #129
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I assume you have found the FOD support site?

These kids are generally fine when they are well, that is the issue, when they get ill and don't eat parents don't see it as a big issue which quickly can become one.

It may be worth speaking with genetics, the ped likely knows nada on the subject. and google has a wealth of info on the subject.

feel free to PM me too, I sadly know too much on the subject.
Thanks. Yes, I'm planning on sternly requesting testing to be done! I'll pm you later!
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Old 02-21-2013, 01:46 PM   #130
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Re: anyone decline the PKU?

sorry your dealing with this. like op said i have no idea what the disorder is but hope it is fixable since you caught soo early. nteresting though as i have never heard about one test being more relialbe for one thing and testing later for other disorders. always been told the other 2nd test was more accurate.
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