Guthrie/PKU

[JanetF]

What sources did you use when deciding whether or not to have your children tested with the heel prick test?

[zoe398]

http://gentlebirth.org/Midwife/pku.html

and you can check out what your state tests for at www.newbornscreening.com

[JanetF]

Thanks I've got the gentlebirth article and I'm in Australia where the Guthrie test tests slightly different diseases from the US. I really want to know stuff like infection rates from the slice, false positive rates. And how did everyone decide whether or not to have it? Is the fact that no one's responding indicative of blanket screening really being blanket screening and no one decides to not have it? Given the discussions around Vit K, Hep B and the eye drops (which are only administered in the US not Australia) I thought there'd be more of a response. What experiences have women had of the test being performed, would they do it again in the light of that?

[mothragirl]

i talked this over with my midwife who doesn't believe in vaxs, and was very supportive of me declining vit k and eye drops. her rational was that the things screened for here in tx are very easy to manage if you catch them in time and if my baby was retarded because i didn't want to get a few drops of blood i would probably regret it the rest of my life. my BF held her while i cried when we did it but i do think it was the right thing to do. its not like they're having something introduced to their system or having their body altered in some way.

[JanetF]

Thanks for your POV. What did you read about the diseases to convince you that testing was a good idea? And do you know what happens to the DNA in the US? In many countries it's owned by the company that does the tests and the govt has access to it. So your child's DNA is on file for the govt indefinitely. That's how it is in Australia despite most people not even knowing that

[mothragirl]

i googled each of the things that my state tests for, Phenylketonuria (PKU), Congenital hypothyroidism, Galactosemia, Sickle cell disease, Congenital adrenal hyperplasia. all of these easily managed if discovered. i also asked our families about our history and found out my dad has sickle cell disease. the government having alice's DNA does not bother me. i have no clue what was done with her placenta and i'm not too worried about it.

ETA-i also could not find enough info to convince me that testing was a bad idea.

[JanetF]

Thanks I appreciate your input

[sciencemama]

I've actually done extensive research on newborn screening as part of a work-related project... good timing because my baby is due any day now.

First, it's important to know that these are "screens", so false positives are expected and additional follow-up tests are needed for definitive diagnosis. Also in the US, the number and extent of testing varies greatly by state-- some states screen fewer than 10 disorders, others screen all 29 of the ones recommended by the American College of Medical Genetics. Some states only screen "at-risk" groups for certain disorders. You can request and pay for additional screens if you desire (around $50-100).

Importantly, some of the disorders (for example, galactosemia) cannot be tested accurately if the baby is less than 24 hrs old. Some states mandate re-screening if the heel stick was performed prior to 24 hrs--- a few mandate rescreening for all infants at their first well-baby appointment. So if you're giving birth in a hospital, keep track of when they want to collect the sample and ask them to wait until just before you are discharged. With all the variations, it's worth asking your health care provider exactly what procedure they follow.

The rationale behind early screening is that some disorders can be controlled by dietary changes. Early intervention can truly help prevent lasting brain damage and early death in these few, rare cases. HTH!

[Thmom]

Originally Posted by JanetF

Thanks for your POV. What did you read about the diseases to convince you that testing was a good idea? And do you know what happens to the DNA in the US? In many countries it's owned by the company that does the tests and the govt has access to it. So your child's DNA is on file for the govt indefinitely. That's how it is in Australia despite most people not even knowing that

I coudln't find anythng supporting this, but being the "hippy" that I am, I don't trust the government so this was an issue for me with all the genetic engineering being done I didn't want to inadvertantly be a part of it.
Also, the huge rate of false positives and I feel confident that if something did arise I would know. I spend every waking moment with my baby kwim... and there is no history on either side of the family that puts us at risk.
Thankfully now I'm in a state where refusal isn't a big deal. When I lived in CA with our UC's I had a CPS worker call and ask why we refused the test. Thankfully nothing more came of it.

[sciencemama]

Sorry to be so long-winded... forgot that I wanted to mention that metabolic disorders are notoriously difficult to get correctly diagnosed once the symptoms present... because there are simply many types of disorders and they are often mistaken for developmental delays, autism, or CP. Some of the organic acid disorders can remain silent for years until an acute episode is triggered by an upper respiratory infection or by a high consumption of protein. Acute episodes often result in permanent brain damage or death.

Again, these are really RARE conditions. (Some of the individual disorders only affect 1/50,000 or 1/100,000 people-- I think overall the numbers are something like 1/600 babies will be affected by one of the 29 conditions that are typically screened).

[JanetF]

Thanks, sciencemama. So the process by which you chose to test or not test was based on your research then? I'm having trouble finding anyone who researches this particular test before having it done. I had basically the info you've mentioned but I wonder how many of us do before we agree or deny?

Thmom maybe it is different in the US but one of the reasons people refuse in Australia is the DNA on file thing. Thanks

[wtchyhlr]

My Homebirth Midwife encouraged the test, and did it herself, on my couch, after my milk was in, while DS breastfed.

[DesireeH]

nak

i had my first baby in a hospital so he got it done routinely and only @ 12 hours old so I am sure it was a waste for him to have had it (i read its most accurate after milk has come in.)

This time (homebirth) we chose to have it because I figure a heel stick is better than problems associated with those diseases (that can be treated if caught early). I had her at home so the midwife came back 2 days later to do it. Halfway through I almost said "FORGET IT!" cause my daughter is NOT a bleeder (thank goodness I said NO to vit K!) and she had to get poked 3 times and have her foot squeezed and squeezed. Poor baby. At least we got to hold/nurse her through it (dh held her at the end cause we had to have her upright to try to get enough blood to fill the last circle on the card.) But when she got poked she was nursing at least.

I can imagine my poor ds getting poked in the hospital with no comfort at all from those hag nurses that were at my hospital.

I think think they need to come up with a way to test with less blood. 5 circles is a bit much. 1 should be plenty. Grr.

[carriedaway]

I'm ashamed to admit that I didn't research this before DS was born - I researched everything else, but I didn't even think about this. My mw was very supportive of our decision not to vax, but she did the PKU, though it was several days after birth. I will research it with the next child, very definitely.

carrie

[amyjeans]

I did very little research on the test- before having it done- now I am still learning but am taking a different view on it. Here's why.
With my last baby, we did it, and all signs were good- no issues.
Something told me to dig just a bit deeper about that result. Why? well, I have a thyroid disorder- and when Sydney was 1 month old, I called my GP to ask if the PKU covered thyroid- she said yes, and all was fine. I asked if we could do a more indepth blood draw for her.
Thank God I asked. Sydney has congenital hypothyroidism and will be on medication for the rest of her life.
I wouldn't even think of what life would be like if I didn't ask.
So I am for the test for this reason...but...not at 1 day or 1 week after birth.
It should be done, if reason to do it, a month after birth when the baby has had enough time to use and discard any remaining placental blood in her body. That is why her PKU was fine- she was still living on my blood-loaded with Synthroid- so of course she was fine, then.
If I come across any more info about the other tests covered with this, I'll drop by again.
I'd like to see what others think of this test, also.