PKU Test. I am saying no!! - Page 3

[acrathbun]

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.

[Benji'sMom]

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.

[Lula's Mom]

Those were my thoughts, too, Quirky. I was just readin' along and then I went

[huntersmommy]

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

[Anglyn]

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.

[Unoppressed MAMA Q]

i think it is not necessary

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.

[Healthy Skeptic]

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

[ctdoula]

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.

[foreverinbluejeans]

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.

[Quirky]

Your words, Healthy Skeptic, not mine:

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.

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

And finally.....

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.

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.

[Healthy Skeptic]

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!!!

[pamamidwife]

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.

[lorijds]

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

[Jane]

Information for Washington State

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.

[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.

[elyice]

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.

[amyjeans]

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

[Healthy Skeptic]

The Newborn Screening Exemption Form

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.

[WriterMama]

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.

[orangebird]

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.