PKU.com Community Discussion Forum New to PKU.com PKU carrier gene test?

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  • #9211
    Avatar of Alan
    AlanT
    Member

    Hi,

    Me and my wife has just had a 2nd child (son) and we've received the blood test back which states that theres a chance that he may have PKU. We've just had a 2nd blood test done today and it may take a while to get the results back. I was wondering how do we test to see whether me and my wife carry the gene? and if that test result will be retrieved quicker.

    Thanks for your time,

    Alan

    #9212
    Avatar of Nicole
    Nicole1982
    Member

    Hi There..

    I have PKU Myself, i was always told that it takes 2 PKU Genes to make a child have PKU…. So basically am saying both you and ur wife carry the gene :-) hope this helps x x

    I think this right…. Because when i had my children i carried PKU in both my genes so it determined weather my partner passed on a gene with PKU for my Children to actually have PKU the same as me!!!

    Hope this helps x

    #9213
    Avatar of Alan
    AlanT
    Member

    How did you get the test to see whether or not you had the PKU gene?

    #9215
    Avatar of Breanna
    BreaMarie91
    Member

    Hi Alan,

    If someone has PKU this means they received two PKU genes, one from each parent. If your son does have PKU it will mean that you and your wife are both carriers. This does not mean that you or your wife have PKU. It just means that you both have one PKU gene and one normal gene, and you both passed on your PKU gene to your son. Please keep in mind that in no way does this mean any of this is your fault as there is no way you could have known you carried the PKU gene.

    Like myself Nicole was diagnosed with PKU through what is called the Newborn Screening. This is a blood test that looks for several genetic disorders including PKU. If this blood test shows high levels of phenylalanine (an amino acid found in protein) it could indicate that the infant has PKU and therefore carries two PKU genes.

    I hope this makes sense, and if you have anymore questions please let us know!

    Breanna 19 Classical PKU

    #9216
    Avatar of carrie
    clenk
    Member

     Hi! the ladies are right- the test for pku will likely return before you could get genetic testing done (which takes a few months i've heard). IT is likely that your child has pku if they have tested with a high phe level at the newborn screening. I had two girls who were fine before our little carolyn was born. At 7 days old i was told to go to the hospital immediately for more testing b/c they thought she might have pku. It was terrifying and she not only has pku but classical pku (the most severe form). However we learned how to do her heel pricks at home- did them every day for a long time and then every second day. She is now 8 months old and we do them once a week. She was rarely in range in the beginning- she was too high then too low and sometimes the adjustments to her formula (6 bottles a day of special pku formula) seemed to have the oppostie effect….but today she is almost always in range- two testign she was out of range in the last 3 months  i think and is a happy healthy little 8 month old baby who is crawling, pulling up, cruising and babbling with a few words sprinkled in and starting to wave bye bye!  It is a very scary time – but honestly it gets better. I spent the first few months scouring the internet for anything i could fin and wanted to know the future- and i have to say the future is friendly! 

    This is a great site for resources. Where are you from? Good luck. 

    #9218
    Avatar of carrie
    clenk
    Member

     THis is the website that has most of the links you'll need
    http://specialchildren.about.com/od/phenylketonuria/bb/pkuresources.htm

    #9219
    Avatar of Alan
    AlanT
    Member

    Thank you so much for clearing everything up.

    Just a few other questions;

    1. Our son is currently being breastfed before we have our results back. He was born on the 17th of Oct and so he is around 3 weeks old now. If he does have PKU, would it harm him to not be on a strict diet ASAP?

    2. I'm quite concerned about how he will develop physically on a strict low-protein diet, he came out into this world at 4.24kg(9 pounds 3oz i think) and I had the hopes that he would grow to be a big strong boy but now I'm not too so sure?

    #9220
    Avatar of Breanna
    BreaMarie91
    Member

    Hi again Alan,

    To answer your first question if your son does have PKU and is put on the low protein diet after diagnosis he will be okay. He will need to drink the special PKU formula, but if your wife decides to continue breastfeeding as well she can do that. Otherwise he will still need to have some regular baby formula, because despite having PKU your little guy still needs just a little bit of protein to survive.

    The PKU formula will provide him with all of the nutrients (protein without phe in it, calories, etc) he needs that he would not get from other foods that are too high in protein, so the low protein diet should not affect his growth. If he has PKU as long as he takes his PKU formula he will grow and develop just like any other little boy.

    Breanna 19 CPKU

    #9222

     Breanna is right – at this point breastmilk is the best thing your wife can be giving your child if he actually does have PKU, because regular baby formulas have way more protein in them then breastmilk.  I have breastfed two out of my three children with PKU and each of them I breastfed for 9 months (with the second one getting pumped breastmilk in small quantities for a few months longer).  With the two that I did breastfeed I also had to provide a low protein formula at a few of their feedings.  With Erica I breastfed her at every feeding and then had to give her an ounce of formula three times per day.  With Genavieve I gave her an ounce of formula at every feeding and then breastfed her after that.  

    As for your second question about your child growing properly – the special formula that he would drink if he has PKU has a lot of nutrients and that alone will give him things such as modified protein to help with growth and development.  In my family you cannot tell by looking at my kids who has PKU and who doesn't.  In fact two of my more solid kids (I say solid because they aren't fat or even chunky but just feel more solid then their siblings) have PKU.  Just like the regular population has various sized people so does the PKU population – there are short people with PKU, tall people, skinny people and even heavy people.

    #9225
    Avatar of carrie
    clenk
    Member

    I would suggest pushing the formula now- even just one bottle a day- until they get the results back- it will prevent the numbers from climbing too high and even if it is not necessary it will help baby get used to a bottle and the taste/smell of the formula. If you can afford it i would strongly suggest you find yourself a good double electric pump (i got a freestyle and it has worked well) so she can pump while feeding the bottle. If she doesn't keep up her milk supply then there is a chance that she could lose her milk (b/c when it comes back that she can only nurse 1-2x per day it will be too much of a shock to the system!) and i'm guessing breastfeeding is imporant to her.

    It sounds daunting and impossible but it will be ok. Chances are he will be just as big and strong (maybe even moreso) than non pku. My little girl is onpar for her weight and they say that pku ers usually have better muscle tone. Phe is one amino acid in protien. There are many more. The formula has all of the other amino acids – just not phe…..in the normal person's body phe is broken down into Tyr. So the formula has extra tyr added b/c pku bodies cannot do the phe to tyr conversion. At the end of the day baby is getting the same stuff regardless.

    I breastfeed and it is very hard- espeically b/c i have two other little ones- but they say breastmilk increases iq by up to 10 points and pku decreases iq by 10-15 points so i figure if i nurse baby should be extra ok- right? I just pumped my extra milk and donated it to a family who needed it (baby was allergic to formula). It took a lot of hard work but was worth it. 

     

    #9269
    Avatar of Tanya
    jakesmom
    Member

    Hello AlanT,

    First off, congrats on your new arrival :) I can certainly empathise what you are going thru. Lil Jacob was born at 28 weeks, and it was after his first few days, that we found out his results returned questionable. 2nd test also came back positive. So for us, this was simply something else added to the mix that we were concerned about when looking at our 2lbs 9oz lil guy!! 

    As for Breastfeeding – He continued on breast milk as they monitored levels. We have been fortunate, that no diet has yet to be implimented, and he is almost 6 months old. He (so far) has been diagnosed with HyperPhe, which from what we read, was the best of the possible outcomes. However, his levels, have been sneaking up slowly, with no down turn as of yet.. so we are having to monitor him a lil more closely. We did have to go to formula when he was about 4 weeks old. There have been no restrictions to date, and he is developing lovely. His last check of Phe was 582, which was a concern, as our clinic implements restrictions at 600.

    As for the test for you and your wife. It does take longer, much longer. I believe that the PHe test for us (in Canada) thru the infant screening program took 3-5 weeks. They have just gotten approval for the genetic test to find the exact strain he has, and the blood has been taken. It is our understanding this test goes to Denmark, and will take up to 6 months to return. Once they have his blood tested, they can proceed with Mom and in our case Donor, to find further particulars out.

    Best of Luck, I found this site WONDERFUL for information. I am certainly glad to be Canadian as we have much more assistance then our neighbors to the south. Where are you located?

    Tanya

Viewing 11 posts - 1 through 11 (of 11 total)
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