PKU test

[JenniferLS]

i will probably post lots of questions in the future as I am planning on my first homebirth...I can't TELL YOU how AMAZING it is that there is such a wealth of knowledge here and so much willingness to share! KUDOS to all you amazing moms!!!!

Now to my question: I HATE the heel stick test! It makes me cry! I did some reading up a few months ago from some midwife conference or something...and the question was brought up about using cord blood for the PKU test...and as they studied it further, they actually said this was more effective anyway?

What are your thoughts on the PKU test, and do any of you use the cord blood for testing? That would DEFINITELY be my preference, if that is a
common practice. Our state requires two tests...one in the hospital (if it's a hospital birth) and one a week later. But I think i read that the cord blood test is so much more accurate that only one test is necessary. My son was born in a different state from my daughter, and they only required one PKU test...so I was pretty upset that i had to put my daughter through another one.

[mamatoElias]

I saw this on the main forums page and wanted to comment.

From the CDC website, http://www.cdc.gov/mmwr/preview/mmwrhtml/00000243.htm :

"It is now firmly established (7,8,10) that cord blood cannot be used for PKU/PHP screening. Whether or not feeding practices influence the accuracy of screening in the first 3 days of life remains uncertain; it is the opinion of the Committee that this factor is of only minor importance, and the Recommendations should be followed regardless of the feeding protocol."

I have seen a false positive on a PKU that, according to the lab that processed it, resulted from a midwife using cord blood for it. I'm sorry I can't tell you more in regards to why cord blood might affect the results. Maybe someone else can tell you more.

I would stick to the heelstick. You can hold your baby skin to skin during the procedure and nurse if the baby is willing to decrease procedural pain. But IMO, this one is worth doing.

[GoldmanBaby09]

I found the same info from the CDC site. I also read on gentlebirth.org that cord blood cannot be used because PKU is a metabolic disorder and blood needs to be drawn from the infant after he has digested mother's milk. It seems like a good idea in theory! I definitely am not a fan of having my newborn pricked with a needle, but my mw does the test and I know she will be gentle. I'm also planning on nursing him while it's done to distract him.

[JenniferLS]

Thank you for clearing that up for me. I don't know where i got confused on that issue. i saved the articles from the gentlebirth.org site...and i just went back and checked...and it said what you said...no cord blood. BUT, I really do remember seeing some other link that said it was OK...but that must not have been accurate, or maybe it was outdated. UGGHHH!!! I was hoping to get out of the PKU test....oh well.

[JenniferLS]

one more thing..

So, how soon (in a homebirth setting, of course) is the PKU test done? If doing it early can be inaccurate (which i guess is why they do two tests), why not just do ONE test, but do it later on...like after a week? What is your general experience with this? One test, or two? Early or later?

Thanks!

[RedPony]

I opted out of the PKU for both my homebirths. Just FYI.

[jsinaz]

Food for Thought...Literally...

Hello, I just wanted to introduce myself. I have a 13 month old with PKU. I also have a 3 and 3/4 year old who does not have PKU.

It was horrible seeing our almost 4 year old pricked...and, the nurse told us she was going to be high strung, because of how she reacted to the nasty shot...Hello, she just had a horrible pricking...Then, again at the doctor's office. I had NO idea what the blood test was testing and thought nothing could be wrong with our new angel. I just followed traditional medicine and its requirements.

Then fast forward to our next daughter, same newborn blood screening. This time, however, just over a week later, we received notice of the screening results and were rushed to a special clinic for genetic disorders. Because it was diagnosed early, she will have an extremely strict, crazy diet with no serious proteins (black beans, eggs, meat, fish, cheese, milk, etc.) But, will not experience the serious brain damage, skin problems, developmental delays that can occur if the PKU goes undetected. The newborn screening can detect many different genetic disorders. In fact, there are studies suggesting that Sudden Infant Death has decreased because it is likely that several incidents of SIDS were actually genetic defects that slowly impacted the baby's bodily functions and served as silent-type killers.

Anyway, I can appreciate the arguments for and against this testing. And would never judge an individual for choosing one way or the other. I just know with me, I never even understood what was being tested and what a impact early detection can make. Our 13 month old is happy, healthy, just started to walk, babbles up a storm. Her smile melts...and, if we had not done the test or there were no test...our lives would be so different.

Hope this offers some insight. I also want to let folks know that these are very rare disorders, so no one should sit around worry about them. PKU is one of the most common of the "rare genetic disorders" and it is about a one in 10,000 - 15,000 occurence.

[lindsayjean]

okay, probably a stupid question, does one's homebirth midwife do this test or would you have to take your newborn into a clinic to get it done? My last child was born at the hospital so I didn't have to think about these things. I don't want to forget anything!

[Lunaria]

I just gave birth last wednesday at home and we did the PKU test. The test was done by our midwife 4 days after dd's birth. I held dd close to me and she was breastfeeding. Midwife did the prick(with a little box type device), dd let go of breast for a second and gave a small protest and went right back to the breast. The midwife gently 'milked' her heel for 4 drops of blood to blot on special testing paper that she dropped off at the hospital. It's not something I liked doing but dd was barely affected by it and the implications if she actually had one of the rare diseases are very serious. We didn't do anything else to dd(no eye drops or vaccines etc), but this is one thing that didn't seem worth the risk compared to the procedure.

Jenny

[the_lissa]

It is done here between 3 and 5 days and thy only do one. My midwives do it at home while I nurse.

[nashvillemidwife]

Originally Posted by JenniferLS

Thank you for clearing that up for me. I don't know where i got confused on that issue... BUT, I really do remember seeing some other link that said it was OK...but that must not have been accurate, or maybe it was outdated.

The confusion is that people are still using the term "PKU" when what they mean is "newborn screening". PKU is only one of many diseases that is tested for from that same blood sample (depending on your state it could be a test for upwards of 50 different diseases). Some of these diseases can be accurately detected with cord blood but others (like PKU) cannot because they are testing for metabolic errors so the baby needs to eat and begin metabolism before the problem can be detected.

[mwherbs]

metabolic screening which includes many different things including hypothyroidism as well as PKU is not done with cord blood- the very early test probably could be done with cord blood because the metabolic diseases that can be detected before milk feeds like hypothyroidism and cystic fibrosis would be found but since the screening is for all the diseases in a list your state thinks is important to look for and PKU and several others cannot be found by using cord blood it is not considered approprate to use cord blood as it could give false negative results-

[*MamaJen*]

Originally Posted by jsinaz

Hello, I just wanted to introduce myself. I have a 13 month old with PKU. I also have a 3 and 3/4 year old who does not have PKU.

It was horrible seeing our almost 4 year old pricked...and, the nurse told us she was going to be high strung, because of how she reacted to the nasty shot...Hello, she just had a horrible pricking...Then, again at the doctor's office. I had NO idea what the blood test was testing and thought nothing could be wrong with our new angel. I just followed traditional medicine and its requirements.

Then fast forward to our next daughter, same newborn blood screening. This time, however, just over a week later, we received notice of the screening results and were rushed to a special clinic for genetic disorders. Because it was diagnosed early, she will have an extremely strict, crazy diet with no serious proteins (black beans, eggs, meat, fish, cheese, milk, etc.) But, will not experience the serious brain damage, skin problems, developmental delays that can occur if the PKU goes undetected. The newborn screening can detect many different genetic disorders. In fact, there are studies suggesting that Sudden Infant Death has decreased because it is likely that several incidents of SIDS were actually genetic defects that slowly impacted the baby's bodily functions and served as silent-type killers.

Anyway, I can appreciate the arguments for and against this testing. And would never judge an individual for choosing one way or the other. I just know with me, I never even understood what was being tested and what a impact early detection can make. Our 13 month old is happy, healthy, just started to walk, babbles up a storm. Her smile melts...and, if we had not done the test or there were no test...our lives would be so different.

Hope this offers some insight. I also want to let folks know that these are very rare disorders, so no one should sit around worry about them. PKU is one of the most common of the "rare genetic disorders" and it is about a one in 10,000 - 15,000 occurence.

Thanks for sharing that. I know a lot of us opt out of a lot of the interventions, but the metabolic screening test is something I would never pass up. It's a moment of discomfort for the baby (and honestly, my babe objected more to getting his footprint taken than he did to the heel stick) but it can prevent a lifetime of severe brain damage. Beyond a few seconds of discomfort, there are no real risks that I've heard to the test.
My midwife warmed up my baby's heel, and I nursed while she did it. It really wasn't bad at all.

[JenniferLS]

another PKU question...

THanks for EVERYONE'S perspective on this...VERY HELPFUL! I will definitely think of it more seriously than simply another horrible thing they do to my child!

First of all, I finally met my midwife yesterday! She said that she does not do the PKU test...too bad, I wish that she did. But, she also said two things that I hadn't heard before...and they seem too simple to be true...
what do you think?

First of all, she said that they used to simply test the urine for PKU. I don't know how easy it would be to test urine from a diaper. But she's been an RN for over 30 years, so I assume she's telling me the truth.

Secondly, she said that if BOTH parents are negative for PKU, then the baby won't have it. That definitely sounds simple...but maybe for the parents it's more than just a blood test for PKU, maybe it's a genetic test...does that make sense?

Thanks!
Jennifer

[GoldmanBaby09]

They did used to test urine, but I think this has mostly been abandoned as it is not as reliable for determining results. The other thing you should look into is what is ran along with the PKU in your state. Most places run a pretty full panel of not only PKU, but also a multitude of other disorders. I know here in NV, it is PKU and 7 or 8 other things. So if anything, take a little comfort in knowing they aren't just testing your little one for one thing. If it was just PKU, I would be more likely to decine, but since it is other life threatening disease, I feel a little better about it.

[mwherbs]

I guess to be clear no PKU is a bit more complex than that- and the other thing is that if both of you have recessive genes for the other 30-50 metabolic diseases that could be screened for with the heel stick tests your baby could go undetected - the thing of it is many of the metabolic disorders can be treated simply and that the screening is just a screening after that there are diagnostic tests to confirm/make a diagnosis - probably the most prevalent one locally is hypothyroid and left untreated makes for developmental delays and adds health risks when just giving a baby some thyroid replacement med would be protective--- I have run across this one in 2 clients and none of the parents had thyroid issues --- the health department of your state will have a brochure with the full info and can tell you where to get the screening done if your midwife doesn't offer it.

[JenniferLS]

mwherbs

thanks...and that clears a lot up. i was never told that the PKU tested for anything other than that. However, my midwife did say that she takes the cord blood to test for all kinds of other things, like thyroid, etc. i guess I just need to ask my pediatrician exactly what is tested, etc. I at least feel better knowing that by doing a homebirth, I bypass the PKU test in the hospital...so I can just do one test, instead of two. My youngest had her second PKU done in the lab. The first, in the hospital, obviously without me there. I think next time, if it's my only option, I will take my baby to the lab, but INSIST that they let me hold him/her. Last time they just held her down on the table. It was UNBEARABLE! Or maybe i should just find a better lab tech!

[*MamaJen*]

Originally Posted by JenniferLS

Secondly, she said that if BOTH parents are negative for PKU, then the baby won't have it. That definitely sounds simple...but maybe for the parents it's more than just a blood test for PKU, maybe it's a genetic test...does that make sense?

Just want to reiterate what other posters have said -- you and your partner may both be PKU negative (or negative for any of the other metabolic disorders it tests for), but you could be carrying recessive genes that could make your child positive.
You could ask your pediatrician if they do the test. They'd probably be okay with you holding or nursing the babe while they do it. And tell them to warm up the heel -- it makes it a lot easier.

[Beppie]

My baby was born at home, and we went into the hospital for the PKU test when she was about 10 days old.

(But I had a tear that healed on its own, and my midwife didn't want me climbing stairs for 5 days or so, and then it was the Christmas holiday... this is why we waited 10 days. If dd was born in summer and I hadn't had a tear, we might have gone in sooner.)

[jenneology]

Originally Posted by JenniferLS

Secondly, she said that if BOTH parents are negative for PKU, then the baby won't have it. That definitely sounds simple...but maybe for the parents it's more than just a blood test for PKU, maybe it's a genetic test...does that make sense?

This is not true. Both parents can be carriers and pass it on to their children (like in the case of my best friend and her parents).

I also want to say that I appreciate the comments weighing the discomfort of the heel stick with the knowledge of some very serious conditions that need detection. As I read your comments, I thought about how much my little girl hates diaper changes. I wouldn't dream of not changing her diaper since it causes her discomfort when I know that the risks are real if I don't change it.