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Did you all do the PKU? - Page 2  

post #21 of 30
8/10/05 at 2:09pm
When DS got his heel prick at 4 days old I swear I cried harder than he did. DH had to hold him.
post #22 of 30
8/10/05 at 2:46pm
No. The old geezer ped. who was on call when dd was born said it wasn't needed. He said kids with that have "a look" about them and described it me. She didn't look like that and I was so glad not to prick her.

Also, we skipped on the vitamin K and eye goop.
post #23 of 30
8/10/05 at 9:41pm
We did it and also had heel pricks the next three days to check bilirubin levels (she was really jaundiced). All told, due to various screw-ups, she was pricked 6 times in 4 days. I insisted on holding her so I could comfort her, but it broke my heart and I cried too.

Shana
post #24 of 30
8/11/05 at 7:40am
BTW, in Sweden they no longer do the heel prick. The now take blood from the hand. Supposedly it hurts less. Don't ask me how they 'know' this - it certainly didn't LOOK like it hurt less.
post #25 of 30
8/11/05 at 10:27am
Quote:
Originally Posted by MamanFrançaise
I'm such a suck.
Maman, you crack me up. Seriously, though, glad DH came to provide some support...

Babe has her 2 mo "well baby" appt scheduled, and I think we're doing all the shots this time around and I am a TOTAL suck, too, and now am panicked cuz DH won't be able to be there (sigh).

(PS Please no big anti-vax responses, TIA)
post #26 of 30
8/11/05 at 2:17pm
Quote:
Originally Posted by philomom
No. The old geezer ped. who was on call when dd was born said it wasn't needed. He said kids with that have "a look" about them and described it me. She didn't look like that and I was so glad not to prick her.

Also, we skipped on the vitamin K and eye goop.

I'd like to avoid this if possible, but my research seems to be going for it right now... what kind of a "look" do PKU kids have?

Also, did anyone know that you can get yourself and dh tested to see if you are carriers? Then you only have to worry if both of you are carriers. I'm thinking about doing that...
post #27 of 30
8/11/05 at 3:34pm
Thread Starter 
Quote:
Infants with PKU appear normal at birth. Many have blue
eyes and fairer hair and skin than other family members.
Quote:
About 50% of untreated infants have early symptoms, such as
vomiting, irritability, an eczema-like rash, and a mousy
odor to the urine. Some may also have subtle signs of
nervous system function problems, such as increased muscle
tone, and more active muscle tendon reflexes. Later, severe
brain problems occur, such as mental retardation and
seizures. Other commonly noted features in untreated
children include: microcephaly (small head), prominent
cheek and upper jaw bones with widely spaced teeth, poor
development of tooth enamel, and decreased body growth.
This is all that I found on the "look" of PKU.
post #28 of 30
8/11/05 at 3:46pm
Quote:
Originally Posted by Persephone
Also, did anyone know that you can get yourself and dh tested to see if you are carriers? Then you only have to worry if both of you are carriers. I'm thinking about doing that...
But--as described upthread--the "PKU screen" actually screens for way more than just PKU. Depending on your state, it screens for as many as 30 other serious and life-threatening metabolic disorders. You would probably have a hard time convincing a doc (and your insurance) to screen you and your husband for all of those traits, for no compelling reason other than to avoid a heel prick for your child.
post #29 of 30
8/11/05 at 6:19pm
Great! Glad to hear you all survived
Happy mothering...
post #30 of 30
8/14/05 at 3:40pm
We did it (MW came to house to do it) for DS and also DD - it's required by our state and didn't want to fight any battles for not doing it - felt a heel prick is no big deal, and also was informed of a big possibility of getting a false positive, wwhich we did, and so we had to go for more blood tests - a real blood test by a phlebotomist (sp?) and get the blood sent out for more intense genetic testing. He had the false positive for galactosemia, and we were pretty sure, as our MW advised us, that it was due to the warm summer air (the heat affects the blood sample) and didn't really worry too much, but it was a bit nerve-wracking all the more.

It was cool to meet the academic geneticist, though.

Also, we learned that our son is a carrier for a more mild form of galactosemia (the Duarte version), which means that one of us is the carrier. In the end, it is sort of meaningless because the Duarte version isn't very much a serious genetic disorder - treatable with a special diet (soy formula), or even just continuing breastfeeding, as the treatment for this less serious version of galactosemia is controversial. It only matters anyway if his partner has the gene as well.

Which leads to the question of genetic disorder testing in general - what are you going to do with the information? One must be knowledgable on the treatments and not trust only what one person says!
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