Community Discussion Forum New to adult with PKU needs some info!

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  • #8473
    Avatar of erin

    hi there! my name is erin and i'm a 34-year-old female who tested border-line PKU as a baby. nothing more was ever said to it about me other than i was a carrier and had a good chance of having children with PKU. i received no treatment of any kind and followed no special diet.
    my new baby niece has classic PKU and through her geneticist i learned i actually have PKU and am not just a carrier and that the PKU could be contributing to things i deal with like depression, anxiety, and problems with my attention span. I don't know if taking the formula now or changing my diet this late in life would help or what i should do. i really feel like i just found out today that I have PKU because all my life i thought i was just a carrier.
    i'm not sure where to turn for information (i live in a very rural area) or what to do next.
    any advice from anyone here would be great!
    i've been otherwise unaffected by it…have a college degree and am a special education teacher and writer, always had great grades, etc… but my attention span and ability to concentrate has been suffering big time in recent years…and i have had problems with depression and anxiety since about age 14.



    Avatar of Emily

    Hi Erin!

    It is really interesting that you were not treated at all but you don't have any serious problems. Usually if a child is off diet during developmental years it affects their brain greatly.  You may have a more mild form of PKU like hyperphenylalaninemia.

    I would suggest that you find a doctor who can officially diagnose you and start a low protein diet if necessary.  Nowadays, everyone is all about the diet for life philosophy.  And let me tell you, if I start to slip up with my diet I can definitely tell.  When my levels are high or I haven't been drinking my formula, I get lightheaded, headaches, fatigue, and have lots trouble focusing.  When my diet is good, I feel better all around- mind and body.  If you talk to some adults who have been off diet and have gotten back on, most of them say how amazing they feel after their diet is in control. It is a possibility that being on diet is all you need to help clear up your other problems.

    I hope this helps! If you have any other questions I'd be happy to help.



    Avatar of Katie


    Emily wrote everything I was about to.  I think you should find a clinic (let me know if you need help with it!) and speak to them about your symptoms.  The nutritionist at the clinic will be able to provide you and support you with a low-protein diet.  I am very confident if you lower your PHE levels, you will begin to feel happier and more attentive.  I know the feeling of both of these, and it stinks plain and simple!  Best of luck…. let me know if you need help finding a clinic near you.


    Avatar of Jordan
    Emsilly24 wrote…

    nHi Erin!
    .  And let me tell you, if I start to slip up with my diet I can definitely tell.  When my levels are high or I haven't been drinking my formula, I get lightheaded, headaches, fatigue, and have lots trouble focusing.  When my diet is good, I feel better all around- mind and body.




    nHey, new poster here.

    I just wanted to add that as someone who has gone off and on the formula for extended periods of time I can tell you I feel a huge difference. I believe I went several months without my formula, not a huge difference I thought. One week I decided to take it to see if there was any difference and… wow! I felt like a million bucks, and I wasn't so edgey. Before little things would set me off, I couldn't concentrate very hard on one thing at a time, and I felt scattered in my thoughts. After taking my formula and being consistent it seemed like those things went away.

    Avatar of Breanna

    Hi Erin,

    Emily is definitely right. In most cases those who have PKU that are not treated (especially in infancy and early childhood) usually have developmental issues. In your case because your phe levels were borderline you probably have Hyperphenylalaninemia (hyperphe), which is a mild form of PKU. This would explain why you have not had any serious issues.

    Like Emily said your first step is going to be finding a clinic. Speak with your niece's geneticist first. If you live relatively close to your niece there is a good chance that you can be seen at the same clinic as her. If for some reason you cannot attend your niece's clinic you can either use the Clinic Finder link here, or let us know where you are from. We would be happy to help.

    Once you find a clinic to attend make sure they are aware of your symptoms, and then you will need to get a blood test done to check the level of phenylalanine in your blood. From there the geneticist that you see should be able to help you with getting the diet started.

    If possible it would be a good idea to try and go on the low protein diet and drink the metabolic formula. Will it be easy? Probably not, but it will be worth it. In many cases those who have been off diet and go back on say they feel so much better when they are on the diet. A lot of people who are not on the low admit that it wasn't until they went back on the diet and started feeling better that they realized all the symptoms they really had. Being on diet will also help eliminate any other future problems that might occur.

    I hope this helps! Feel free to ask questions.

    Breanna Hardy 18 CPKU

    Avatar of erin

    thanks everyone for the replies. Hyperphenylalaninemia is exactly what i was told i had…but was given no further information than that and, like i said, no treatment. there haven't been any developmental or cognitive difficulties, but once i got into my late 20's (i'm now 34) i started having daily migraines/headaches and major issues with fatigue and concentration off and on. i have been to so many different types of doctors to try to figure out the problem and mentioned the Hyperphenylalaninemia to all of them, but either they didn't know what it was or didn't think it pertained to my symptoms because no one ever suggested following up with a geneticist or anything like that.

    over the past year i started taking meds for m igraines and hypthyroidism and that has helped me a lot, but i still battle the fatigue and concentration issues off and on.

    my niece is a little over an hour away in rockford and i know they have a really good pku center there. i do plan on contacting her specialist once she gets in to seem him herself. i doubt there are any clinics/centers closer to me because of my rural area (i live in Peru, IL), but will def. check the links on this page.

    oddly enough, i was on a low-protein diet until the past three years (vegetarian/borderline vegan) but then my doctor told me the lack of protein in my diet was probably contributing to my fatigue.

    i def. want to know what my current levels are, though, and wouldn't have a problem at all adapting to a low-protein diet…i've changed my diet many times over the years for much less!

    i was actually relieved to hear this can cause headaches and lightheadedness, because those are things i deal with very frequently and none of the doctors i have seen have been able to give me an explination for the lightheadedness, just a pill to take when it happens. getting these things under control for real would be a huge relief and improvement in my life.

    thanks so much for all your information!

    Avatar of Breanna

    I'm glad to hear you might consider giving the low protein diet a try :). Also keep in mind that if you decide to have children the diet is especially important. Women who have PKU (all forms of PKU) need to adhere to the low protein diet carefully in order to have a healthy baby.

    Following a true low protein diet without the metabolic formula can actually be harmful to your health. The formula gives you all the nutrients that you are missing, because you are not eating other foods. The formula also provides you with all the protein you are missing from your diet minus Phenylalanine (phe) which is the amino acid in protein that is harmful to those who have PKU.

    Anyway good luck! Keep us updated!

Viewing 7 posts - 1 through 7 (of 7 total)
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