# PKU Test. I am saying no!!



## Healthy Skeptic (Dec 17, 2004)

Does anyone have a informed consent form against the PKU test? Or how I should word my own. I did not get it with my last child, but had to sign their form. I would prefer to have my own this time.

Also what a reasons you may have against this test. Mine in a nut shell are as follows: Tests are protocol and not always necessary. Many times are inconclusive. Pain and possible infection at needle prick. And they send the blood somewhere after they are done with it, and do not throw it out. That is a huge concern for me. There are others but just wanted to state a few.


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## Jane (May 15, 2002)

Do you have a back up plan to detect the conditions tested for by the PKU test?
Not that I know either, but what are the symptoms to watch for in the early weeks and months instead of having the blood test?

What form I'd make would depend on my state's laws. Some states mandate they offer the test, so the refusal form would say, "I was offered this test and I refuse it." If the law is that the test must be done, the refusal would say, "I decline this test based on my (religious, moral, personal) beliefs. Do not administer this test to my child."


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## AnnR33 (Aug 1, 2002)

Just wanted to say also that I'd want to be sure to know any signs to watch for if you don't get it.
I did some research on it this time and was convinced it worth it to screen for the disorders that otherwise could be symptom free until it was too late...
I nursed my son for both picks and he never cried!
Just wanted to offer that it doesn't have to hurt them...
It's your decision of course to refuse and having something simple written down should be sufficient. I'd have both parents sign just to be safe.
Ann


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## lacysmommy (Nov 10, 2004)

I'm going to learn about the signs for the next baby because the PKU test was traumatic for both of us! I don't want to put another baby through it.


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## orangebird (Jun 30, 2002)

I refuse the one immediately after birth (it isn't accurate for detecting the diseases anyway) but I do consent to one after the baby has started eating, I figure after a week the test is accurate. I have it done when we go into the midwife's office for the first weight check.

I am very selective about what I give my kids as far as tests and shots and meds but I feel the one little heel prick is worth the benefits of the test. That is just my opinion and you are absolutely free to refuse it. If you birth at the hospital and they give you a hard time just share with them that the one they do in the hospital isn't really accurate anyway and tell them (even if you are lying) that you plan to do one the next week when you take the baby to be weighed. That is what I would do if I were at the hospital and they gave me any crap.
I don't think it should be hard to refuse it but I don't know how I would word a refusal, I have never had to sign one.


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## Earthy Birthy (Sep 26, 2004)

I have an Informed Consent form for parents to sign to refuse procedures such as newborn screening (and other procedures), and it states: "I have researched the newborn screening procedure and I have decided that I ( do / do not ) wish to have the screening performed on my baby. I understand that the NBS tests for five disorders which, if not treated very early in life, can cause severe mental retardation, illness, or death. The five disorders tested for include: phenylketonuria (PKU), galactosemia, congenital hypothyroidism, and congenital adrenal hyperplasia (CAH)." There is a line for the parents to sign/date, and a place for me to sign/date. The testing differs from state to state, so you can check with your state health dept. to find out what disorders newborns are screened for, and then do research on those particular disorders and what to watch for. Depending on where you are giving birth (home, hosp, birth center), you may need a more detailed informed consent. Your state's health dept. may also have their own form that you need to sign. Hope this helps!


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## Healthy Skeptic (Dec 17, 2004)

My first child was given the PKU test in the hospital and it was awful. My husband about strangled the nurse. They got in a heated argument and the results of course were inconclusive, when we went for the stupid well-baby check ups we refused to do it again. They wanted me to sign a form like one similar to the one above, and I said no way. I will not admit that I am endangering my Childs life, when I don't feel that I am. I do however appreciate you information and help Amanda. Don't mean to disrespect you at all.

With my second child, I refused the test and had to sign some state form. I don't even remember what it said. I don't think they should even offer that stuff to you after a baby is born. Hormones a racing and morphine a kicking, due to the C-section. That is why I want to do it before, while my head is clear. (oh and just to let you know I am off pain meds, before I even leave the hospital. Rather have pain than my kids have those drugs in them)!

Anyway, the on call doctor for the newborns that week was actually a neo-natal surgeon. The doctor came to our room to check on our son, because we would not let the nurse take him. The doctor asked why I was refusing the PKU test and after I told him why, he said, "I WISH MORE PARENTS THOUGHT LIKE YOU" It felt great. He was very respectful and supportive.

Quote:


Originally Posted by *Apricot*
Some states mandate they offer the test, so the refusal form would say, "I was offered this test and I refuse it." If the law is that the test must be done, the refusal would say, "I decline this test based on my (religious, moral, personal) beliefs. Do not administer this test to my child."

This is exactly what I was looking for thanks. Just needed help with the words.









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## Lula's Mom (Oct 29, 2003)

I was waffling over whether to have it done when we took Marcos in to the doctor on Friday for a newborn exam. I asked the doctor if he recommended that we do it. He said "Uh..." (pause, laugh) "No. I think we do a lot of things to babies that aren't really necessary." Since that was kind of what I wanted to hear anyway, we left it at that.


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## georgia (Jan 12, 2003)

We did it w/all three of ours b/c a (former) close friend of mine has a ds w/a rare metabolic disorder that put him in a coma. Kind of wanted the small reassurance...but really, there are no guarantees. Her son's condition would have been caught with expanded newborn screening heel prick. That said, when I told my friend I didn't really *want* to do the heel prick, she told me I didn't love my children enough, that I was ignorant, selfish and she would pray that they would survive. So, for parents who have been through such a preventable trauma such as hers, there are a lot of intense emotions! We homebirth, don't vax, etc....so I'm pretty used to hearing other people's opinions on what I *should* be doing....everyone has to decide what feels right for them









Good luck!


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## pamamidwife (May 7, 2003)

I offer all my clients an informed choice document on newborn screening. Each state has different newborn screening offered and I can tell you that in Oregon, WA, HI, MT and ID, they do NOT send away the blood after the screening. In fact, the blood from the heel poke is put on specially treated paper in these four circles. There is no blood to send away.

It is true that it is a SCREEN, meaning it's not diagnostic. The disorders tested for are VERY rare and it is also true that if caught early it could save a baby's life, mental abilities or physical health. It's up to the parents to decide what to do on this matter.

I wouldn't dismiss the screen just because of the heel poke. If you really feel that the odds of your baby having any of the tested for disorders are rare enough that you feel good bypassing the test, then I would.

For a state by state look at what is being tested for, look up your own state and "newborn screening" on Google. It should bring up everything - with the rates of incidence, treatment, etc.


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## amyjeans (Jul 27, 2004)

We did the test at the Ped.'s 2 days after our 2nd was born. At the time, I was not aware that the PKU covered thyroid scan. I thought it was a separate test. So one month later, I asked our Ped to do labwork on her blood to check the levels.
Come to find out her thyroid was not working right. She was diagnosed with hypothyroidism.
Here's the thing. I have Graves disease, so during the pregnancy, I was on a major dose of synthroid (.350mcg)
At the PKU, right after birth, or even a week later, dd still would have residual synthroid in her bloodstream from the placenta, therefore masking any real problems. If I hadn't asked for the additional labwork, God only knows when we would have discovered her thryoid issue. If we would at all. And if we saw any developmental problems, we may not have linked it to the thyroid.
Thyroid is a big deal in my family so we had my oldest tested also- thankfully no problems there, but our youngest will probably need the meds for life.
Apparently when the thyroid is not functioning properly, severe mental problems can occur in children under 2 yrs old.
If I were to reccommend the test to those who wish to do it- have it done, a few weeks after the birth, when the baby is truly working on their own blood supply and not leftover blood from the placenta.

PP said it right- immediate testing "probably" proves nothing. They might as well perform the test on the mom!
Same blood right?


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## pamamidwife (May 7, 2003)

It is a misnomer that your baby has to be eating milk for the test to be accurate.

Really, it all depends upon what your state tests for as far as when the most accurate times to test is.

In our state, three days is the best time to test if we're going to test only one time. If we do test only one time at three days, I let people know that there is a chance of missing congenital hypothyroidism with that one test.

It all depends, but it's just a myth that the baby has to be eating before the tests can come back accurately. It's about the metabolic changes as it shifts to processing its own digestion (which occurs before the milk is in) .


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## momto l&a (Jul 31, 2002)

I took my oldest dd in to a hospital have hers done and it was hell. I nursed her while it was being done.

The next 2 my mw did, one baby slept throught hers even though it took 3 pricks to get enough blood and the last baby was wide awake and she never cried or fussed.

I would be careful about nursing while having the prick done as the baby CAN relate nursing to pain and not want to nurse for awhile after that. My oldest was that way and it was awful









my mw wont do the prick till about a week + of age.

I hate seeing my babies pricked but for their health I feel its worth it.


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## Earthy Birthy (Sep 26, 2004)

Quote:


Originally Posted by *Healthy Skeptic*
They wanted me to sign a form like one similar to the one above, and I said no way. I will not admit that I am endangering my Childs life, when I don't feel that I am.

The purpose of an informed consent is to make sure that parents are aware of their choices and of the consequences of their decisions. In the state of Texas, I am required by law to administer the newborn screening exam, although parents do have the right to refuse the test by signing an informed consent. I personally do not believe that *every* baby needs the NSE, however, because of the laws in my state, I have to have the parents sign this form to CMA. My informed consent just states the known consequences (if left untreated) of the disorders that newborns are screened for, and these include severe mental retardation, illness, and death.


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## ComaWhite (Mar 13, 2003)

I said no and held firm------ and then I finally caved and got dd the pku done at 4 weeks old because they just would not leave me alone and kept calling and getting the health nurse to show up at my home.
I wanted them to just go away and leave my baby and my new family alone. So we went in and did it and they let us be after that.

Dd looked quite pissed off at the initial heel prick, but did not cry.


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## milk4two (Mar 20, 2003)

I considered declining in the past because we're not at risk for the diseases tested for. Then I learned a friend of mine who declined the test actually had a baby who does have PKU and fortunately it was picked up when the baby nearly died do to unrelated causes. I've decided to go with the test JIC, one time.


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## mnnice (Apr 15, 2003)

I am sure I'll get flamed here, but I really think declining PKU is a poor idea. I think the focus should be on figuring out how to give newborns or month olds or whatever a heal prick without so much trauma. I was under the impression and would welcome anyone with more information about the Vitamin K shot. That often newborns are given Vitamin K and then nursing staff try to draw blood from babies right afterward.

Individauls with untreated PKU can and often are severely retarded.

Individuals with that follow the PKU diet closely usually are completely normal.

Individuals with poor complaince vary a lot. Often they have attentional problems, but pretty normal intelligence.

Just because no one in your memory in either side has PKU does not mean that your child couldn't. In fact most likely there would be no one.


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## Healthy Skeptic (Dec 17, 2004)

Quote:


Originally Posted by *pamamidwife*
I can tell you that in Oregon, WA, HI, MT and ID, they do NOT send away the blood after the screening. In fact, the blood from the heel poke is put on specially treated paper in these four circles. There is no blood to send away.

Actually this is not true. Current national standards in the United States allow the use of sample cards for research without requiring an individual's consent, as long as identifying data are removed (and, um, I don't trust them to follow that, when I really have now way of knowing). Time of sample storage ranges from 21 years to one week in the United States (I have also heard of nurses telling mothers it was kept for 50 years for legal reasons). In Denmark, cards are stored indefinitely, while in France they are destroyed soon after testing.

Policies also vary or are unclear concerning parent education about the use of residual blood samples, an individual's right to refuse usage of their sample, and ownership of the card. No U.S. state requires individuals to give permission for the use of their genetic information in studies. Australia and New Zealand have a policy of "informed refusal" for sample storage (i.e. after being informed about possible uses of the sample, individuals can refuse to have it stored), and using the cards for purposes outside the screening program requires informed consent. Austria, Finland, Iceland, Sweden and Switzerland have enacted legislative policy to protect information gained from genetic testing. For more info on this and our laws go here http://gslc.genetics.utah.edu/units/newborn/laws.cfm and here http://gslc.genetics.utah.edu/units/newborn/ngt.pdf

Healthy Skeptic

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## Healthy Skeptic (Dec 17, 2004)

Quote:


Originally Posted by *TXmidwife*
The purpose of an informed consent is to make sure that parents are aware of their choices and of the consequences of their decisions.

I looked into this and found out that if you do not include both the risks and the alternative choices than it is not a true informed consent (so thanks for your input). I just don't want to sign something that says I am endangering my child's life. That could bite me in the butt someday. I was just hoping to word it in a way that did not make me sound like a crazy parent who does not love and care for her children. When in fact, I love them so much, that I will not allow doctors or government agencies do what ever they want for the sake of protocol and money in their pockets.

I can't tell you how much you all have helped me so far. I feel blessed.

Healthy Skeptic

My own health forum.
http://www.sisterssoapshop.com/cgi-b.../ikonboard.cgi


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## ramlita (Mar 26, 2002)

When our MW does the heel sticks for PKU, she uses the very point of a scalpel. One quick jab, and the blood is right there, just enough to fill in the little circles.
My DD showed no sign that she noticed at all. I held her for it, and was all set to nurse her right afterward, but she just went right back to drifting off to sleep.

What do others do? I've heard of nurses using needles, which hurt and then aren't very effective in getting the blood to actually surface, so they have to milk the babies' heels to get enough. Sounds awful!!







:


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## Healthy Skeptic (Dec 17, 2004)

Quote:


Originally Posted by *mnnice*
I am sure I'll get flamed here, but I really think declining PKU is a poor idea.
Just because no one in your memory in either side has PKU does not mean that your child couldn't. In fact most likely there would be no one.

Don't worry I wont flame you.







I have heard worse about my choices from less educated people. I assume most of you are very educated. That is why I came here for help. You all have been very nice with your thoughts and comments.

I do know from a friend who was also deciding on what to do, that the PKU itself has to be on both sides of the family for the child to get it. This is what her friend was told by her doctor. Her child had PKU and she was grateful for the test.


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## Healthy Skeptic (Dec 17, 2004)

Quote:


Originally Posted by *ramlah*
What do others do? I've heard of nurses using needles, which hurt and then aren't very effective in getting the blood to actually surface, so they have to milk the babies' heels to get enough. Sounds awful!!







:

This is what happened with my first child. My hubby said she was screaming and crying so loud. It broke his heart. And the lady kept renching on her foot. He stopped her and yelled at her. He can't imagine what they do when parents are not there.

Same hospital 4 years later, My friend got it done and said the lady was so nice and gentle that her baby did not even cry.

Still, unless they gave me that card to destroy myself I will not do it.


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## Jane (May 15, 2002)

There are devices called "tenderfoots" that cut a measured slice in the heel. Warming the foot in a warm cloth or bowl of warm water helps, too. The test is usually 3-4 paper circles that need to be filled in with blood, so the person doing the test sometimes needs to "milk" the foot to get enough blood to ensure the lab has enough to do the tests. The milking shouldn't be that uncomfortable.
There have been accounts of the heel being cut too deeply, needing stitches or causing nerve damage, but that has declined considerably since most hospitals stopped using scapels and started using lancets.
Each state mandates differents tests. While the test is often called the PKU test, it usually has more things tested, as *pamamidwife* mentioned. There's been some lobbying to include more tests, as the cost goes down when everyone does them.
I will soon be talking to someone who works in the state office. I will definitely ask about what our state does with the tests and about whether a test could be returned to the mother afterwards. My curiosity has been aroused on this question!
I started a new thread to talk about privacy issues with blood testing. Maybe you could come help me learn? http://www.mothering.com/discussions...67#post2416967


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## acrathbun (Apr 27, 2004)

hm, well, I can certainly see both sides of the issue. I have gotten the newborn screening for all of my children.

My boys were both in the NICU for prematurity & they did the screen w/ blood they already had drawn through a central line for other labs.

However, w/ my hb (megan) I was seriously considering not having the test done...I'm glad I did. Megan has PKU. We have ZERO family history of PKU. It can be passed on (autosomal recessive, as someone else stated) or it can actually be a spontaneous mutation. For me, personally, when weighing the pros & cons, I don't think I could risk mental retardation just to avoid a poke.

And we have been told by the health dept, our metabolic geneticist, etc. that in order for the initial test to be considered "valid" it must not be performed before 48 hours of feeds (breastmilk, formula, etc.) That's also why it's repeated at 2 weeks old...because they are aware that some babies are not eating well at the 48 hour mark.

jmo.


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## candiland (Jan 27, 2002)

, Apricot.

I used to be a ped. assistant and I did PKUs. I had mama or papa hold a very warm cloth on the heel for several minutes. I used "tenderfoots", which I held against the heel and, clicked a button. I very rarely had to "milk" a foot using this technique. If it was very difficult, I would redo this technique on the other heel and it would be superfast. I'd always request that mamas nurse during the procedure.


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## mimim (Nov 2, 2003)

Before my 2nd baby had the PKU heel stick I rubbed his foot while nursing. He was four days old. When our family doc's nurse stuck him he didn't even flinch. He didn't even change his sucking pattern while she quickly dottted the blood onto the little circles.

My first baby screamed his head off when the nurse grabbed his foot, stuck him, and milked the blood out - without even telling me what she was doing, nevermind asking permission! She only told me what she was doing when I insisted that she respond, and then she mentioned casually that the test wasn't valid any way because he was only 24 hours old. I wanted to kill her!






























So, my advice for those of you who decide to have this test: 1.Nurse during it!! 2. Have someone you trust do the heel stick.


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## ramlita (Mar 26, 2002)

As far as nursing during...

there have been many debates about that part here, and I come out on the side of not doing it. It's important to me to be ready to nurse immediately afterward, but not to let anything like that happen _while_ DD is nursing. I want to keep that time sacred.

edited to add:
mimim:
That is horrible!!!! How infuriating! How does a person get to be like that???
How can anyone work with moms and babies and show no interest in being kind, if nothing else??


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## momto l&a (Jul 31, 2002)

Quote:


Originally Posted by *ramlah*
As far as nursing during...

It's important to me to be ready to nurse immediately afterward, but not to let anything like that happen _while_ DD is nursing. I want to keep that time sacred.


I want to stress what she said again.

I made the mistake of nursing my first DURING the prick like I said in my first post.


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## CarolynnMarilynn (Jun 3, 2004)

I just wanted to add that congenital hypothyroidism is not all that rare: 1/4000. It is totally treatable.

If untreated, it is as serious as phenylkenoturia, which is much rarer.

I don't think that it is right or wrong to decline the testing. As long as you will take the responsibility for making that choice, even if the outcome is that the babe is positive, but it wasn't caught until damage had been done. Chances are, a person's babe would be normal and therefore tested unnecessarily. Chances are funny things though...

Carolynn


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## JessicaS (Nov 18, 2001)

Quote:

However, w/ my hb (megan) I was seriously considering not having the test done...I'm glad I did. Megan has PKU. We have ZERO family history of PKU. It can be passed on (autosomal recessive, as someone else stated) or it can actually be a spontaneous mutation. For me, personally, when weighing the pros & cons, I don't think I could risk mental retardation just to avoid a poke.
I agree. I know a great deal of my family history amd have always been interested in the genetics of it as I know a good deal of my distant family. Since I am familiar with so much of my distant family it becomes very interesting when you can pick out a recessive trait (like no ear lobes..I don't have lobes!) in distant (like 5th cousins) relatives. So I have a very different perspective of genetics because I actually get to see how it works.

Autosomal means that someone must have two recessive genes in order for them to develop the disease. It is possible that both parents can have the recessive gene and not have the disease themselves. They would simply be carriers. Without genetic testing it would be impossible to determine whether someone was a carrier for the disease.

Genetics of PKU
http://www.ess.sunysb.edu/tracy/genetics.html

I did allow the PKU test, it was very quick and dd didn't cry. I nursed her immediately afterwards. I refused some other things that I found absurd like the Hep B vax but PKU I was ok with.


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## Ruthla (Jun 2, 2004)

I personally have no problem with the heel stick for genetic tests, and the finger stick for lead and iron. I'm not very concerned about slight discomfort during the procedure. When you take blood OUT it's very different IMHO from putting something IN (vit K, vax, etc.) You're not risking permanent damage to your child from the PKU test- that IS a risk with any vaccines. (FTR, all of my kids are vaccinated but on MY schedual, not the AAP's. Jack's not fully vaccinated yet.)


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## CaliMommie (Feb 11, 2004)

Since DS2 has a metabolic disorder that has yet to be fully diagnosed & since MIL is adopted we have decided to do Expanded Newborn Testing. With DS2 by the time dr.s figured out that he had metabolic issues he was already hospitalized losing 3 ounces a day (at 2 months old). the dr.s didn't think he would make it & if he would have caught a virus or infection he probably wouldn't have. To me it is just not worth the risk of NOT testing. Not after what we've been through.

AmiBeth


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## Earthy Birthy (Sep 26, 2004)

Quote:


Originally Posted by *CarolynnMarilynn*
I don't think that it is right or wrong to decline the testing. As long as you will take the responsibility for making that choice, even if the outcome is that the babe is positive, but it wasn't caught until damage had been done. Chances are, a person's babe would be normal and therefore tested unnecessarily. Chances are funny things though...

Exactly. You have to be willing to accept the responsibility for the outcome of your decisions, be it good or bad.

Also, I included just the *gist* of my informed consent for parents in my pp. I am well aware of the legal requirements of the document.

ETA: This is coming from someone who will also decline the PKU for my baby, due in March.


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## paquerette (Oct 16, 2004)

Quote:


Originally Posted by *Ruthla*
You're not risking permanent damage to your child from the PKU test

Well... there is still the slight risk of nerve damage by a careless tech. And the harder-to-define risks of compromising the bonding process, the bf'ing relationship, learning to trust people, etc., if the test does turn out to be very painful or difficult. Not something that can be measured, I guess.


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## blessedwithboys (Dec 8, 2004)

well, heres my worthless .02:

my most recent pg was the first one where i "made decisions". i passed on the vit K and eye drops. i was educated by my mw about the "pku", and since several generations of my xh's family are adopted, i went with it. but i did it MY way. lol it was done by the ped at about 1 wk old. ds was nursing great (gained a # in 7 days). they used EMLA, and yes i know some don't feel it is safe, but i felt ok with it. after applying it and covering with an occlusive bandage, the nurse gave me one of those warmers that activates by crushing it in your hand. KWIM? 30 mins later, it took one stick and he did not cry. it was right for us.

and a word about nursing during sticks...my older ones were vax'd, at least partially. all were nursed during. no probs. 3yo not vaxed, but if he needed, say, a rabies shot...lol...i'd nurse him for it!


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## Healthy Skeptic (Dec 17, 2004)

It is very interesting to here all these points of view. We are all so different, yet all seem to have one common thread. We want the best for our children.

Neither of my children are vacciated, nore will any of them be, I pray. You never know with our crazy controling gov. My son had nothing done to him, but being born. My daughter had the stupid k shot and pku test. She also had jaundice very bad, which is linked to that vit k shot. Son was circumsied on the 8th day. No I am not jewish. Just after much research and prayer I felt that is what I needed to do.


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## LoveChild421 (Sep 10, 2004)

I agree with mnnice- I am going to refuse the Vitamin K, eye goop, shots, etc. everything EXCEPT the newborn screening. There is no need to subject your child to it in the hospital (if you are birthing there) because you have to get another test screening test done at the first pediatric visit about a week after he/she is born. It takes a week of ingesting milk for the results to be very accurate.

I know the heel prick may not feel great- but it will not cause any sort of problems that last longer than the 20 seconds it takes to do it- having undiagnosed PKU will cause permanent damage that could otherwise be prevented. I would hate to think that a little heel prick would prevent that sort of permanent pain and suffering.

The PKU test is the only thing that my midwife explicitly recommends and says that most clients get. And I am birthing at home in a state that is not homebirth friendly so you can imagine how different we are as a group than most.

PKU is also fairly common and isn't always directly inherited (just because no one you know of in your family has it doesn't mean your baby won't) as far as what I've read.


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## Marsupialmom (Sep 28, 2003)

I refused to do them at the hospital at birth.

Were I had my son it was common for them to have to be redone at their 2 week well visit. I had him on a Friday, checked out Sunday, called back Tuesday and told them I changed my mind and I asked if they could do it then. They gave me the lab paper work. They did it through the vain. Which after seeing some of my friends' new borns I felt it was more gentle.

With my girls I just sat up a doctor's appointment 3 days after birth. I left the hospital with in 24 hours after delivery, by my own choice.

I know when I had my first if it was given soon after birth it often was not accurate. The first hospitals' practices is why they had the high redone rate.


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## thismama (Mar 3, 2004)

Wesaid no. Just like that. Nope. REason was that there was such a low statistical chance of dd having what they were testing for (inability to digest an enzyme or protein or something... I dont remember now), I intuited that she was fine, and could not have fathomed allowing them to stick needles in her little red foot and squeeze blood out for such an obscure possibility.

She is almost 14 mos now and wonderful.


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## Quirky (Jun 18, 2002)

I will do the PKU (well, expanded version, not just PKU) test this time around, even though our experience last time around was pretty miserable. This time around, I'm going to make sure baby's foot is very warm, she's in arms, and can nurse before, during, and after. Sadly last time around ds wasn't nursing at the time we did the test (took a long time to get him to the breast) and the room was way cold, so they had to stick and squeeze.

I must say, I cannot at all fathom the rationale behind declining the PKU test in part for fear of pain and infection risk and then ripping and slicing half a baby boy's erogeneous tissue off, thereby creating a big old wound that's a) extremely painful and b) may get urine or feces on it. Infection is one of the most common complications of circumcision. Talk about huge and unnecessary pain and infection risk.







At least there's a medical reason for doing the PKU test - same can't be said for circumcision.


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## acrathbun (Apr 27, 2004)

Quote:

I must say, I cannot at all fathom the rationale behind declining the PKU test in part for fear of pain and infection risk and then ripping and slicing half a baby boy's erogeneous tissue off, thereby creating a big old wound that's a) extremely painful and b) may get urine or feces on it. Infection is one of the most common complications of circumcision. Talk about huge and unnecessary pain and infection risk. At least there's a medical reason for doing the PKU test - same can't be said for circumcision.
thank you for saying that.


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## Benji'sMom (Sep 14, 2004)

DS had the PKU test. He didn't cry, but on the other hand, my cousin had it done on his baby and the poor baby screamed until she passed out. Maybe it was done with different instruments, because my cousin described it as "cutting her heal," whereas with DS, it was just a quick prick with a lancet which didn't seem like "cutting" to me. So at least find out how it will be done.


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## Lula's Mom (Oct 29, 2003)

Those were my thoughts, too, Quirky.







I was just readin' along and then I went


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## huntersmommy (Dec 28, 2003)

I did PKU on both my kids, with my oldest I ask my dr. while I was pregnant anbout the test and his responce to me was"life is pain and she better get used to it, if you think a needle will hurt her, think of the consiqeunces of not doign it!!!!"
needless to say I waas naive, and trusted him and did the test.
with my son I researched all teh test and I still did PKU but again, I hate to say it but my gut told me not to do it, I didn't do any other tests, but my Midwife who basically wokred on scare tactics and didn't respect any of my wishes or birthplan anyway, mad eme feel that I should do it.
But we did it with HUnetr nursing and he was 3 days old, it went very well, but I would still not do it if I ever have another baby!

ETA: my son if perfect and intact just he way he was meant to be


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## Anglyn (Oct 25, 2004)

I will definately do the pku testing, just not at birth Im thinking. I mean, if they have to do it twice because they know the first time isnt accurate, why do the first one at all?

With dd, when they did the second one at the peds office, they used the warming pack thingy and it worked great, I also nursed her through it and she barely flinched. Just started nursing a little faster then went back to sleep.


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## Unoppressed MAMA Q (Jun 13, 2004)

and for those of you who think that's a bad idea, i would never flame you for saying so. your voice, counts, that's why the OP asked!
nonetheless, i am not making a bad choice. my views about life and how to live it really are just maybe different. in my worldview, things that are not and inherent part of beign human are throughly optional. a PKU test is a cutural symbol and not a mandatory part of humanity.
it's just not the way i operate. i'm not stupid, just...different values and beliefs!

that said, my children both ended up with it. child "protection" services forced my first baby to get one (she was 6 months old). then second baby was born immediatley after we got done with cps. my partner and i were deeply paranoid of a possible re-encounter. so we got it done to baby number two. he's so sensitive, he cried, i cried, i am deeply sorry that i did it, it meant nothing to me. their little test results would have in no way changed my parenting techiques as far as i can tell. seriously. i know that might incur some form of flame, but i am what i am.
they sent us a bill and never even sent us the test results. i of course was not really surprised, i knew what it was about all along...no offense to anyone who finds it a valid test, but i just don't.
anyway, there's an anti test mama for you whose kids HAVE had the test! i voted 'yes' anyway, cuz i didn't do it to my first kid. if the state had not forced it on her, it wouldn't have been done. that's a long story though.


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## Healthy Skeptic (Dec 17, 2004)

Quote:


Originally Posted by *Quirky*
I must say, I cannot at all fathom the rationale behind declining the PKU test in part for fear of pain and infection risk and then ripping and slicing half a baby boy's erogeneous tissue off, thereby creating a big old wound that's a) extremely painful and b) may get urine or feces on it. Infection is one of the most common complications of circumcision. Talk about huge and unnecessary pain and infection risk.







At least there's a medical reason for doing the PKU test - same can't be said for circumcision.

This is a different topic all-together. I have differing views concerning this than most on this forum. Perhaps if I have time, I will start a new thread on it someday, but probably not since I may get attacked.

Also I don't think that it is mere pain that is the reasoning for us who choose not to get the newborn screening. And for many there is no medical reason to do it, rather it is protocol. Look back at my post on the neonatal surgeon's comment on why I would not do it. He was impressed that I was not doing it.

I hate protocol and standardization as well. This is taken from my Healthy Skeptic forum.

Standardization means resolving in advance all the problems that might
possibly impede the functioning of an organization. It is not a matter of
leaving it to inspiration, ingenuity, or even intelligence to find a solution
[to a problem]; it is rather in some way to anticipate both the difficulty and
the resolution. From then on, standardization creates impersonality, in
the sense that the organization relies more on methods and techniques
than on individuals. We thus have all the marks of a technique. Organization
is thus a technique.

I guess I wish hospitals were more individual based than organization based. But than they would not get paid as much.

Heathy Skeptic
My own forum:
http://www.sisterssoapshop.com/cgi-b.../ikonboard.cgi


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## ctdoula (Dec 26, 2002)

Quote:


Originally Posted by *Healthy Skeptic*

Also I don't think that it is mere pain that is the reasoning for us who choose not to get the newborn screening. And for many there is no medical reason to do it, rather it is protocol. Look back at my post on the neonatal surgeon's comment on why I would not do it. He was impressed that I was not doing it.

I hate protocol and standardization as well. This is taken from my Healthy Skeptic forum.

Standardization means resolving in advance all the problems that might
possibly impede the functioning of an organization. It is not a matter of
leaving it to inspiration, ingenuity, or even intelligence to find a solution
[to a problem]; it is rather in some way to anticipate both the difficulty and
the resolution. From then on, standardization creates impersonality, in
the sense that the organization relies more on methods and techniques
than on individuals. We thus have all the marks of a technique. Organization
is thus a technique.

But why did this screening test (which is MUCH more than just screening for PKU) become standard????????? Because hundreds/thousands of babies were born every year, looking and seeming perfectly normal & healthy, who then went on to either being mental or physically impared or died from these underlying conditions.

Could you live with yourself if you had a perfectly healthy three year old who suddenly got a stomach virus, and died in his/her sleep because of a rare enzyme disorder that you didn't know about? And this death could have been prevented with a heel stick that takes less than one minute? (this is the case with one of the disorders on the expanded screening list, if kids go more than a certain number of hours without fuel, they could die because their body doesn't store energy properly). I know I couldn't.

You can check out www.marchofdimes.com for more info about newborn screening & the tests that are actually run in your state, etc.


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## foreverinbluejeans (Jun 21, 2004)

It is very important to know if your baby has one of the conditions tested for so that there can be early intervention. It turned out that all three of my children have a very rare genetic disorder, a cluster of immune deficiencies, that is not tested for. The tests did not even exist until after the birth of my third son 16 years ago. They probably all would not have survived if they had not been breastfed. My youngest had a very poor prognosis and the doctors did not expect him to be able to walk and expected he would be moderatly retarded. We started speech, physical, and occupational therapy before he was even a year. His IQ is around 80 and he reads at an adult level. He is not good at sports but he can walk normally. He may even be able to go to college with the proper support.

The disease my children have is more rare than many that are tested for. For many of the conditions, appropriate medical treatment can be absolutly necessary. It is definately worth the little stick.

I am a former medical technologist. What is usually done is the baby's heel is stuck and drops of blood are put on a piece of special paper. The tests are usually done at a large referral lab. I would demand to be with my baby when the baby is stuck. You may opt to nurse during the procedure. If they won't let you nurse ask if there is another lab you can go to. They may change their mind or you may decide to use another lab. You can call ahead to see if you can be with your baby and if they will allow you to nurse.

While I was in training, I stuck an outpatient baby for the PKU (the only test at the time) and the baby wouldn't stop bleeding. The mother had insisted on waiting in the waiting room and there wasn't anyone within shouting distance. I held the baby's foot and rushed to the ER, blood dropping on the floor. It turned out that the baby had a rare bleeding disorder and it was very lucky we found out at the hospital and not at home.


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## Quirky (Jun 18, 2002)

Your words, Healthy Skeptic, not mine:

Quote:

Also what a reasons you may have against this test. Mine in a nut shell are as follows: Tests are protocol and not always necessary. Many times are inconclusive. *Pain and possible infection at needle prick.* And they send the blood somewhere after they are done with it, and do not throw it out. That is a huge concern for me. There are others but just wanted to state a few.

Quote:

My first child was given the PKU test in the hospital and it was awful.

Quote:

This is what happened with my first child. My hubby said she was screaming and crying so loud. It broke his heart. And the lady kept renching on her foot. He stopped her and yelled at her. He can't imagine what they do when parents are not there.
And finally.....

Quote:

Also I don't think that it is mere pain that is the reasoning for us who choose not to get the newborn screening.
Really? How interesting, in light of your previous posts.

Quote:

And for many there is no medical reason to do it, rather it is protocol.
And what is infant circumcision but protocol, whether religious or cultural? Certainly there is no medical reason to do it - but many medical reasons not to do it.


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## Healthy Skeptic (Dec 17, 2004)

Quirky, I just love when people have the time to pick apart what I have to say. I thought being on a natural forum that I would have the liberty to be honest, I see this is not the case, as I feel you are attacking me and picking at me for my choices. :ignore

I did not come here to argue with any of you.







: I was hoping for a little support, which I did receive. I was not hoping for vultures, who were going to actually take the time to pick through 3 pages of messages to try to disprove or make a spectacle of me. I know I don't have that kind of time.

Anyway thanks to those who disagreed and did it in a mature fashion. Thanks also to those who agreed and were supportive. I will post my informed refusal when I get it ready, for those who are interested, you can find it at my forum, I may also post it here if there is interest.

Healthy Skeptic
http://www.sisterssoapshop.com/cgi-b.../ikonboard.cgi
Don't come to argue!!!


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## pamamidwife (May 7, 2003)

you know, there *is* a medical reason for the screen, it's just deciding whether or not the small chance that your baby has any of these rare disorders is worth skipping it.

honestly, many of these disorders are much more rare than, say, a baby infected with GBS. We have women here on MDC that think nothing of not treating GBS+ mamas. I think it's totally up to the parents to decide what to do - and that nobody can define risk that is comfortable for someone else. From VBACs to inductions to GBS to unassisted birth, we all need to be able to provide solid, statistical information rather than heresay to make informed choices.

Each state has their own protocols for the test, what they test for and how many times to test. I think it's imperative that each family research this on their own - or with help here - to decide their course of action.

I don't feel strongly about it one way or another. One real risk of the newborn screen is the fact that it is NOT diagnostic, so you could be given a warning that your child has something seriously wrong, be told to stop breastfeeding (because many of the conditions require special formula, not breastmilk) and wait anxiously until the diagnosis is made.

Still, some families choose to undergo the test feeling that a small heel prick is nothing compared to the information that could save their baby's life or mental health.

I say that we're all here to gather information. I wish this thread had more solid information about the newborn screening test (like the fact that we should stop calling it a PKU test, since it tests for so much more than the PKU) rather than conspiracy theories and people coming down on others for their choices.


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## lorijds (Jun 6, 2002)

Since part of my job is to do the home visit at 48 hours, it is also part of my job to do the Metabolic screening.

Here are some suggestions for those of you who choose to have it done.

Make sure your baby is well dressed and that the environment is comfy. If it is too cool, the baby will not have as good of circulation, and it will be more difficult to get a sample. Before the test, go to the bathroom and let the baby's foot and lower leg run under the warm water for a couple of minutes. Then dry it thoroughly and tuck the warmed leg under your arm or next to your body to keep it nice and toasty.

Ask the tech/nurse how they do it. We always warm the leg first with a warm washcloth (I actually rewarm the washcloth several times). I will not do the test unless the baby is being cuddled by mama or papa. I encourage mamas to nurse, or at least be ready to nurse after the procedure. I know some people feel that it is not appropriate to nurse during a painful procedure and I will respect that decision, but personally I think that is bunk. I think babies are smart enough to know that mama is safe, breastfeeding is positive, and that poke was not something that they will associate with breastfeeding or their mama; rather, they will associate breastfeeding and mama with soothing all woes and making them feel better.

"Tenderfoot" or some similar lancet should be used. It should not be done by a blade or a needle. I always talk to the baby throughout the procedure, explain what is going to happen, and apologize in advance for any pain. I would do this for anyone else; why not for an infant?

The heel should never be milked. This actually causes more damage, sending a message to the brain that it needs to clot faster. Plus, the squeezing and cellular damage that occurs results in more serous fluid in the sample, which can invalidate the results. Instead the heel should be held lower than the body, with the foot stabilized by the tech/nurse's hand. I always hold the foot low and firmly, but gently. I poke the heel, and then I wait patiently. Blood drops should form within seconds. The babies typically don't cry or let out a little squack and are quick to respond to soothing. If the heel clots off before I have filled all the dots, then rubbing the stick-site once, firmly, with the washcloth that was used to warm the heel usually clears the clot and allows for enough flow for me to obtain enough of a sample. I never poke more than twice; if I can't get it in two sticks, it isn't going to happen, and we just try again in a few days.

Hopefully this info will help you be more informed consumers, as it is, for you to be able to ask questions and find a tech/nurse who will perform the test in the gentlest, safest, most respectful manner for you and your baby.

Lori


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## Jane (May 15, 2002)

Information taken liberaly from http://www.doh.wa.gov/ehsphl/phl/newborn/reports.htm

Our state mandates testing for:
PKU
Congenital Hypothyroidism
Congenital Adrenal Hyperplasia
Hemoglobinopathies
Biotinidase Deficiency
Galactosemia
Homocystinuria
Maple Syrup Urine Disease (MSUD)
Medium-Chain Acyl co-A Dehydrogenase (MCAD) Deficiency

In 2000 (the last year there is published data), 77,575 infants were tested, and 260 were found to have a tested defect. Of those, only 2 were caught on the second screen instead of the first.
The test cost $35.50, which includes the first test, the second test, and any follow up tests to confirm the 'status of the infant'.
The state provides the most financial support to provide medial care for sufferers of PKU, but provides at least free education on all the tested items.
The state provides a breakdown of the cost to detect each item. It costs $102,000 to detect one case of PKU, as the rate is 1 in 13,174 tested infants. I guess we as a state have decided we consider it really important to prevent mental retardation as a result of PKU.
The most common finding was congenital hypothyroidism, with a rate of 1 in 3,634 tested infants (Cost: $33,980).
Total rate of occurance is 1 in 1,899 infants.
As far as I can tell, these are not suspected cases, where one or both parents has a family history, as those are sent to the lab as tubes of blood for more specific testing.
Also as far as I can tell, these are cases confirmed by later testing, these numbers do not include false positives.


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## paquerette (Oct 16, 2004)

One of the PP mentioned that she is on thyroid meds, and her baby's congenital hypothyroidism wasn't detected in the first test, but the second (1 month later?). I'm also on thyroid med (Armour) and wondering how long it will take for it to clear the baby's system. Did your doctor say how soon it would have shown up? I'd like to base my first visit to the doc's on this, since this is actually my main concern (probably the most likely problem for my baby to have), and I don't want to have to go through the test twice.


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## elyice (Apr 7, 2003)

I do all tests on my children. I want to know if there is any indication of anything wrong. There are metabolic disorders that reamain undetected until the child dies of "SIDS". here's alink b/c I know I'll be quoted. http://www.aboutnewbornscreening.com/
I ordered the extended screening b/c in CALi we only have the PKU and 3 others as standard. We paid for all 60 tests.
MY dd Is 4 and still a wonder as to what her issues are. She has many developmental/growth problems. There is nothing worse than NOT KNOWING what is wrong with your kid. HTH hugs Mama.


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## amyjeans (Jul 27, 2004)

Quote:


Originally Posted by *paquerette*
One of the PP mentioned that she is on thyroid meds, and her baby's congenital hypothyroidism wasn't detected in the first test, but the second (1 month later?). I'm also on thyroid med (Armour) and wondering how long it will take for it to clear the baby's system. Did your doctor say how soon it would have shown up? I'd like to base my first visit to the doc's on this, since this is actually my main concern (probably the most likely problem for my baby to have), and I don't want to have to go through the test twice.


Hi- the pp was me. I am not sure when my meds left her body, however- they didn't show 1 month later, hence the results.
One thing I wanted to mention was, the test I asked for from my Ped *was not a "PKU Redu" but an actual blood draw*. Needles and all! (what fun!)
In CT, the PKU is only performed 1x immediately after birth.
Since I have a history of thyroid issues, my Ped will continue to test all my childrens' blood this way- even though they will still do the PKU test, an additional blood draw will be done 1+ month after birth.

Good luck.
PS- I am on synthroid- not Armor. at the time of birth, .350mg


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## Healthy Skeptic (Dec 17, 2004)

I have listed this separate as well, but wanted to reply to this thread, since I said I would. I have finished my research and have come up with my on Newborn screening informed consent.







:

It took a long time but was worth it. I want to share it with all of you, but I say this in warning. Study it for yourself. Although most of the disorders are inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Many of those people who carry the gene, never know that they are carrying it. So just make sure you don't just take my word for it. My decision is not right for everyone.

Also I want to say that this is just for Michigan, check with your state to see what they check for.

I should be giving birth in the next week to a month, depends if I have Vasa Previa or not. Will find out soon. I will let you all know how it turned out concerning all my many forms.

INFORMED CONSENT OF THE MICHIGAN NEWBORN SCREENING TEST

The Michigan Newborn Screening Test currently screens newborns for eleven (11) disorders. Ten (10) which are hereditary and require two genetic carriers to have children together to pass it to their offspring. Even when both parents carry the gene there is still a one (1) in four (4) chance that the child will have the disorder. We have researched what each disorder is, what the signs and symptoms are, their commonality, and how they are inherited. This information has been typed out and listed on the attached pages.

Some of the limitations of this test include but are not limited to the following. (1.) Given so soon after birth the test is not accurate for detecting the diseases. It can be inconclusive the first week of birth. (2.) Not all affected infants will be identified through the screening. The accuracy of the tests depends on a variety of factors. While newborn screening has been reliable at times, false positive and false negative results are possible.

The Newborn screening test should be considered a screening test only Screening can indicate the possibility that an infant may be at risk for a disorder included in the testing panel. However, additional diagnostic tests are necessary to determine if the infant with an abnormal screen actually has a disorder. Because the Newborn screening is not diagnostic, a parent could be given a warning that the child has something seriously wrong, and than told to stop breastfeeding, just to hear later that the test was a false positive.

Current national standards in the United States allow the use of these screening specimens for research without requiring an individual's consent, as long as identifying data are removed. Michigan currently keeps the screening specimens for 21.5 years and then are destroyed. During that time, some specimens may be used for medical research. As parents we have no real way of assuring that our own information or the information of our child is protected, or much say on how they are used for testing.

We completely understand all the risks and/or benefits associated with allowing or not allowing the Newborn Screening Test to be performed on our newborn. Based on the information we have studied as well as our religious, moral and personal beliefs we decline this test.

We ask that you do not administer this test to our child.

Names and Dates

INFORMED CONSENT OF THE MICHIGAN NEWBORN SCREENING TEST
Continued

Phenylketonuria (PKU) is a genetic disorder that causes the amino acid phenylalanine to build up in the blood. This can result in severe and irreversible mental retardation, especially in infants, if not treated early.

PKU occurs in 1 out of every 13,500 to 19,000 births.

PKU is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder.

PKU signs and symptoms include: A musty odor to the skin, hair, and urine. Vomiting and diarrhea, leading to weight loss. Irritability. Skin problems, such as sensitivity to light (photosensitivity), dry skin, or itchy skin rashes (eczema).

Galactosemia is an inherited disease where the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body. If galactosemia is untreated, high levels of galactose can cause vomiting, diarrhea, lethargy, low blood sugar, brain damage, jaundice, liver enlargement, cataracts, susceptibility to infection, and possible death.

Galactosemia occurs in approximately 1 in 30,000 live births.

Galactosemia is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell must be altered for a person to be affected by the disorder.

Galactosemia signs and symptoms include: vomiting, diarrhea, lethargy (sluggishness or fatigue), low blood glucose, jaundice (a yellowing of the skin and eyes), enlarged liver, protein and amino acids in the urine, and susceptibility to infection, especially from gram negative bacteria. Cataracts (a grayish white film on the eye lens) can appear within a few days after birth

Hypothyroidism is the condition in which the thyroid is underactive (i.e., it is producing an insufficient amount of thyroid hormones). Hypothyroidism is the most common thyroid disorder. Severe hypothyroidism can lead to a condition called myxedema, characterized by dry, thickened skin and coarse facial features.

Hypothyroidism affects 1 in 3,000 to 4,000 newborns. For reasons that remain unclear, congenital hypothyroidism affects more than twice as many females as males.

Most cases of congenital hypothyroidism are sporadic and occur in people with no history of the disorder in their family.

Hypothyroidism signs and symptoms include: jaundice (yellowish skin), noisy breathing, and an enlarged tongue. If hypothyroidism is not detected and treated, early symptoms in the infant include feeding problems, failure to thrive, constipation, hoarseness, and sleepiness.

Maple syrup urine disease is an inherited disease of amino acid metabolism that causes acidosis, central nervous system symptoms, and urine that may smell sweet like maple syrup.

Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide.

Maple syrup urine disease is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.

Maple syrup urine disease signs and symptoms include: Poor feeding. Vomiting. Poor weight gain. Increasing lethargy (difficult to wake up). Characteristic burned sugar smell to urine. Changes in muscle tone, muscle spasms, and seizures.

Biotinidase Deficiency (BTD) is caused by the lack of an enzyme called biotinidase.
Without treatment, this disorder can lead to seizures, developmental delay, eczema, and hearing loss.

(BTD) occurs in 1 out of every 60,000 live births.

(BTD) is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell must be altered for a person to be affected by the disorder.

(BTD) signs and symptoms include: seizures, poor muscle tone, skin rash/infection, hyperventilation, and apnea.

Sickle cell anemia is an inherited disease in which the red blood cells, normally disc-shaped, become crescent shaped. As a result, they function abnormally and cause small blood clots. These clots give rise to recurrent painful episodes called "sickle cell pain crises."

Sickle cell disease occurs in approximately 1 in 500 African-American newborns and 1 in 1,000 to 1,400 Hispanic-American births.

Sickle cell anemia occurs when a person inherits two abnormal genes (one from each parent) that cause their red blood cells to change shape.

Sickle cell disease signs and symptoms include: joint pain and other bone pain, fatigue breathlessness, rapid heart rate, delayed growth, and puberty susceptibility to infections, ulcers on the lower legs (in adolescents and adults), jaundice, bone pain, attacks of abdominal pain, and fever.

Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD) is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). People with this disorder have inadequate levels of an enzyme that breaks down (degrades) a certain group of fats called medium-chain fatty acids.

(MCAD) occurs in 1 out of every 15,000 live births.

(MCAD) is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.

(MCAD) signs and symptoms include: vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia).

Homocystinuria is a disorder in which the body is unable to process certain amino acids (the building blocks of proteins) properly. The most common form of the condition is caused by the lack of an enzyme called cystathionine beta-synthase. This form of homocystinuria is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, and skeletal abnormalities. Problems with development and learning are also evident in some cases.

Homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in Ireland.

Homocystinuria is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.

Homocystinuria signs and symptoms include: mildly delayed development or failure to thrive (poor growth). After 3 years of age, these children have visual problems such as nearsightedness and/or dislocated lenses (a part of the inner eye slips out of its normal position).

Citrullinemia causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.

Citrullinemia Type I is the most common form of the disorder, affecting about 1 in 57,000 births worldwide. Type II citrullinemia is primarily found in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals.

Citrullinemia is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.

Citrullinemia Type I signs and symptoms usually becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they develop a lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness.

Citrullinemia Type II signs and symptoms usually appear during adulthood and mainly affect the nervous system.

Argininosuccinic aciduria causes ammonia to accumulate in the blood. Ammonia is toxic, especially to the nervous system, and argininosuccinic aciduria usually becomes evident in the first few days of life.

Argininosuccinic aciduria occurs in approximately 1 in 70,000 live births.

Argininosuccinic aciduria is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.

Argininosuccinic aciduria signs and symptoms include: lethargic or be unwilling to eat, have poorly-controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma.

Congenital Adrenal Hyperplasia (CAH) is caused by a missing enzyme needed for the body to function properly causing overproduction of male hormones. CAH refers to a set of inherited disorders that occurs in both males and females as a result of the excess production of male hormones.

(CAH) occurs in 1 out of every 21,500 births. but mild forms of the disease may occur in one out of every 100 to 1,000 persons.

(CAH) is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.

(CAH) signs and symptoms in girls include: ambiguous genitalia, early appearance of pubic and axillary hair, excessive hair growth, deep voice, Abnormal menstrual periods, and/or Failure to menstruate.

(CAH) signs and symptoms in boys include: early development of masculine characteristics, well-developed musculature, enlarged penis, Small testes, and/or early appearance of pubic and axillary hair.


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## WriterMama (Mar 27, 2002)

Quote:


Originally Posted by *mara*
I refuse the one immediately after birth (it isn't accurate for detecting the diseases anyway) but I do consent to one after the baby has started eating, I figure after a week the test is accurate. I have it done when we go into the midwife's office for the first weight check.

I am very selective about what I give my kids as far as tests and shots and meds but I feel the one little heel prick is worth the benefits of the test. That is just my opinion and you are absolutely free to refuse it. If you birth at the hospital and they give you a hard time just share with them that the one they do in the hospital isn't really accurate anyway and tell them (even if you are lying) that you plan to do one the next week when you take the baby to be weighed. That is what I would do if I were at the hospital and they gave me any crap.
I don't think it should be hard to refuse it but I don't know how I would word a refusal, I have never had to sign one.









:

And I agree with several other posters that there is a big difference between putting something into a child's body and just getting a blood sample (smear, really). We declined vit k, eye drops, vaxes, etc. but my mw did the pku test when she did the 1 wk exam.


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## orangebird (Jun 30, 2002)

Quote:


Originally Posted by *pamamidwife*
It is a misnomer that your baby has to be eating milk for the test to be accurate.

It all depends, but it's just a myth that the baby has to be eating before the tests can come back accurately. It's about the metabolic changes as it shifts to processing its own digestion (which occurs before the milk is in) .

Thanks for the clarification, It won't change how I manage the testing of my own children but I'm glad to learn that, that totally makes sense. In practice it still means the same thing for when I will test, I will still refuse the one on first day of life and do it at least a couple days later.

Good to know, I hate to think I am giving parents false information. Not false, but not as clear as I could. Although I think the way I have worded it is the child needs to be metabolizing and I guess I figured colostrum was metabolized but the body still needed a few days to rev up, for lack of a better term. Thus the day of life one test isn't as accurate for all the tests on the screen.


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## acrathbun (Apr 27, 2004)

Quote:

It is a misnomer that your baby has to be eating milk for the test to be accurate.
Kimberly,

I just wanted to say that I'm not sure about the accuracy of this information. I think Pam is just about always right







but my daughter has PKU and we have been told nearly the opposite.

There is a small shift in phenylalanine levels before the 24-48 hours of good feeds, and most babies who have PKU and are tested during that small shift will still get identified. However, there are a handful that won't. So, if you are only going to to the test once, please do it after the baby has been eating well for a few days.

In the early days after her diagnosis, when we checked my other children, we actually did a "phe challenge" where we fed them as many complete proteins as we could, waited a certain amount of time & then had the labs drawn.

Other metabolic disorders may not need the 24-48 hours of good feeds, and since I'm not an expert on those, I won't comment. But, the PKU test (specifically) will give the most accurate results when feeding is well established.


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## orangebird (Jun 30, 2002)

Amanda, so in the end, it is still fine to wait a few days and refuse the 24 hour test, right? Not everything is picked up the first day but by waiting a few days you won't miss anything. Is that right? I mean there is nothing I can think of that would be picked up on the first day of life but you would get a false negative by waiting.


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## p1gg1e (Apr 3, 2004)

But than I took her to the Dr. and the nurse wouldent prick her so then we went back to the hos. She was 8days old when she was done and 1. didnet cry and bled like a pro. the nurse siad it was the most amazing one she had ever done and called about the whole floor in. she told me if I really totally refused they were told to contact CPS. WHATA LOAD OF [email protected]#$. anyway it wasent a huge deal. But I dont like to think my DD's Blood is on a card somewere in a filing cabnit in OHIO just waiting for DNA testing. May refuse the next becaus I'm paraniod .

Elizabeth


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## Healthy Skeptic (Dec 17, 2004)

Quote:


Originally Posted by *p1gg1e*
But I dont like to think my DD's Blood is on a card somewere in a filing cabnit in OHIO just waiting for DNA testing. May refuse the next becaus I'm paraniod .Elizabeth

Yes, I am a bit paranoid as well. Don't want to see any clones of my kids walking around someday.


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## JennyClaire (Jun 5, 2005)

Just wanted to put my 2 cents in on this.

I believe in:
















But I _did_ have the PKU test done for both my babies.

My DD's PKU test was in the hospital 2 days after birth, and over very quickly, so I thought it wouldn't be a big deal with DS. I weighed carefully the risk/benefit for my DS's PKU test, and decided in favor of it. DS was born at home, so I had the choice between the Health Dept. and the county hospital. Not wanting to expose DS to germs at 2-weeks-old, I brought him to the Health Department. BIG MISTAKE!







The staff there do so few PKU tests that it took them what felt like YEARS to get enough blood out of his poor little foot.







Nursing did not help much!

My advice:
If you do the test (and I _do_ think this one is worth it), go somewhere you have heard from someone else that the staff knows what they're doing so it won't be traumatic for the babe!


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