Community Discussion Forum Adults and PKU Adult Late Diagnosed As A Child

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    Avatar of Rebecca

    I was born in 1962, 4 years before newborn screening for PKU was done in most hospitals. It wasn’t until 1966, after my youngest brother was tested (they began screening for it that year) and diagnosed with it also that I was tested. I was hospitalized and placed on the diet right away, but taken off of it after only a year. Doctors felt that it was too late for me and that I wouldn’t benefit from it. They predicted that I would be severely mentally retarded by the time I was in grade school and recommended that I be placed in an institution, which is where many people my age with PKU ended up back in those days. My parents didn’t agree with them and kept me at home. My younger brother stayed on the diet until he was a teen-ager when he was taken off of it by the doctors. I have 4 children who have been adversely affected by my PKU and have had a miscarriage as a result of my high phe levels at the time of my pregnancies.


    but… did you have any defects from this? thanks heather

    Avatar of Maddy

    oh wow, and i thought i had it hard! what has it been like growing up with/into PKU? wasn’t it obvious that something was wrong?

    Avatar of Rebecca

    In answer to Heather’s question of “did I have any defects from the pku”: There are negative side affects to living with untreated PKU. As a child I was very agitated, a lot of rage. As I got older my tremors and tics started getting worse, but are still subtle enough that others seldom notice them. There is irritability and headaches. My I.Q., however, is in the gifted range. My PKU symptoms are manageable and I am a very positive, happy person.

    Avatar of Rebecca

    In my previous post I forgot to include another problem related to my off-diet PKU: hyperactivity.

    Avatar of debbie

    Hi I was diagnosed at 2 and 4 months with PKU my mother did not agree to send me to an institution even though I eventually had convulsions, head back plus all of the other off diet PKU symptoms. My mother always knew that something wasn’t right during my first year of life before the convulsions etc and took me to a hospital in Sydney. She pleaded this doctor to run tests on me which I had over and over in my first two years of life but they all proved negative. My mother then asked if there is any news about any illness or any disorders and the doctor’s reply was they had a medical journal from Dr Koch which described the wet diapper test for PKU. Then he added that “if this proves possitive then you need to put her in an institution” which my mother got really annoyed with the attitude that she was getting. I was then put into hospital to see what effect food had on me. My mother was extremely strict with me which I thank her now as I am able to live a great life!! The amazing part when I was head banging I always put my hands down to protect my head. I am really intelligent especially being over two years without treatment. I am the eldest of four children. My mother was also responsible for introducing screening for PKU into Australia! I am extremely proud of my mother she is truly amazing!

    Avatar of Stephanie

    hello pku1962 I am a 35 year old with classic pku and I live in missouri and I understand what you are talking about. I was born in 1971 was diagnose at birth with pku and i was also taken off diet when I started kindergarten as I got older my step-mother notice I was not acting right so back to hospital I went and I had high phe levels and was put back on diet in the 6th grade and was very good with diet in school but now that I am adult I don’t do such a good job because I know what I am missing.. I also have a daughter she does not have pku but has some side effects from high phes when I was pg but she is 14 and in the 9th grade at a state school for the disable she is doing great..
    I know have tremors in my hands,eye’s,tongue but I do ok I don’t know what my IQ is I have not been tested for a while but my last level was 17 I tend to stay in the teens never over 20..
    I hope you are doing well and good luck with everything I know how hard it is . It was nice to see that someone knows what I am going through.
    nGood luck to All

    Avatar of karan

    Hi pku1962,
    I was also a late diagnosed pkukid. I was 8 years old and I have a younger brother who was 3 when he was diagnosed. He is severely mentally retarded. Miraculously I’m not- but just barely not. I didn’t have all the problems you have but I had some of the same ones. I’d love to chat with you sometime if you want. I think we’d have al;ot in common.

    pkukid1 ( it’s pkukid1 because I’m the first and my brother is the second, if he had a online “name” it’d be pkukid2)

    Avatar of Patti

    I was born before testing, too. i was 6 and my brother was 8 when we were diagnosed. my brother is ok, but i’ve been struggling. i’m not retarded, but i have struggled in school. i’m now 49 (50 in October) and i’m taking a crack at college for the third time. i’m not doing well in school, but i have to do something. ni’m truly sorry to hear about your children and your miscarriage. i have 3 children. my daughters are perceptually impaired and my son is neurologically impaired. so far, my grandchildren seem normal.

    Avatar of Danielle

    Hi Everyone,
    I’m 23 and was diagnosed with moderate pku at birth. I was on the pku diet until about age 14. Gradually, my doctors seemed to be less and less concerned with my phe intake. They said that by the time I was an adult I wouldn’t have to worry about pku, only if I were to become pregnant. As a child I struggled a bit in school, but that could be blamed on my other health problems and the fact that my dad moved us around so much. Once we settled down and I was healthy, my grades went up and everything seemed fine. Currently, my IQ is 126, which is pretty good/normal.
    After many years of eating whatever I want, I’m trying to get back onto a pku diet, mainly because I think I’m pregnant. It’s really hard and I’m constantly worrying about what I eat and if I’m going to hurt the baby.
    I have a couple questions for pku1962, smorff, and any other mothers with pku:
    What kinds of effects did your pku have on your children? nWhat were your diets and lifestyles like during pregnancy? nDo you have any advice for me?

    Avatar of Kelli
    Kelli Kat

    bsbdeezee, I am a mom with pku I have three children. They are all healthy and have not suffered any affects from pku. The oldest two are excelling in school 97.6 overall average for my 8yr old last year, and 98 average for my 6yr old last year. the youngest has started this year and is doing well so far. None of my children have any behavioral issues or other side effects. I would suggest that if you are pregnant to follow the diet and do your best to control your levels.
    I also have a moderate form of pku and found the diet became easier after sticking to it for a month or so. Good luck and all the best. Kelli

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