Living with PKU

Living with PKU

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Living with PKU

July 15, 2011 in Uncategorized

My name is David I am a 52 year old man that has has PKU. My experience with PKU includes my brother whom is 54 and now my grand daughter whom is3 weeks. My brother was diagnoised with PKU after experiencing etc. The doctors were stumped for a long time. At the time I was two years old the doctors called my mother and informed them that my brother had PKU. They asked my mother if she had any other children. She responded yes she had me and was pregnant and about to deliver my sister. The doctors informed her that they would test my sister and not to worry about me since I was not exhiiting any of the symptoms of the disease. The tests on my sister came back negative, thatk God but the tests on me were posetive, my mom freaked. The doctors couldn't figure out how I escaped the effects of PKU. I was put on the PKU diet at age 2 but only left on it until the age of 5. I did all the PKU diagnostics that were available at the time and I would make my yearly vists and I never understood the scope of the disease. My brother was severly effected but I never met him until I was 16. Today I am still not on the PKU die t altnough I understand that there has been a search conducted to locate the people of my generation and get them back on the diet.

5 Reviews of Living with PKU

  1. Registered: Oct 31, 2006

    Posts: 0

    Taylor, Michigan

    wow that stinks i hope that everyone is doing well ii am only 22 and they found it when i was 3 weeks old but i heard that it was hard to find in the early years before i was born and now they are making new things to help the phe levels come down .. have you tried kuvan or anyone in you family

  2. Registered: Jun 9, 2011

    Posts: 0

    bothell, Washington

    Im a 62 old adult off diet at the moment. I also found that manyof the formulas bothered my stomach. I worry about the weight gain and the sugar content. Phenyade60 i will be trying. its suppose to bring down the phe level as well. My first thought was the one with the relaxed diet but ive been told it does not bring down the phe level. 

  3. Registered: Feb 23, 2011

    Posts: 0

    Mckinney, Texas

    I am a 34 year old woman with PKU diagnosed at about 3 months of age at the University Of Virginia medical center in 1977. I was among the first to be detected by the newborn screening methods in the state. No other member of my family has it- neither close or extended. I had dietary control issues through my primary years and the formula was s syrupy sugary i could not stand it. I rarely ate any foods because i have 3 other siblings with normal diets and 2 parents that worked full time and commuted. Not much time left over for supervising low protein cooking or assembling diet plans. Ultimately i was taken off diet when i was 12 and by the time i reached high school they were now recommending to be on diet for your whole life. Of course I had gotten used to a normal diet and did not ever make myself fully able to commit to returning to it.
    My whole life people treated me as different. Every conversation my mother had with someone began with “she is sick” I was tortured in school about my eating habits. We moved to CA right around the time i quit the diet all together. I wish i had not but you can’t go back and erase things. Everyone expected me to never amount to much. Excuses were always made that i would have learning problems. I am happy to say that I graduated High School with honors and have an AA in social science and only left school because i was marrying the love of my life. Now I am a Practice Manager running a Medical Facility doing better than I would have if I had pursued my BS in Elementary Education. I have a 8 year old son also. I was always told i could never have children because my diet had never been in good control. Well i committed to it and was followed again before and during my pregnancy and was not quite as low as the wanted but my phe levels were lower than they had been even when i was a child. I had labor complictions due to what turned out to be a Appendix problem. 3 days after my sons birth i had emergency abdominal surgery. My son is a healthy happy child who has blessed our lives. When he was born all the drs knew of my PKU and he was tested for everything under the sun. I was told horrible things and basically it was suggested to me that he would not live on his own and i should withhold feeding him and just let him go. I was traumatized. But after reflection i told them all to shove it. Dr’s are not infallible. Not always right. and no one else was going to tell me what my child was ultimately going to be capable of. That was done to me my whole life and i proved them all wrong. My son has done the same. His head size is on the low end of normal and he does have learning and speech issues. Only recently have i had him tested for a specific disability and it has come to a common concensus that he is actually Aspergers. He is on medication for behavior issues and doing well. My PKU may have contributed to his problems but issues like that run in both my husbands family and mine. It does not matter how he came to have it, just what we do about it now!!! All i can say is never let someone else tell you what you are capable of. ……
    I have been in texas for 5 years now and have no idea who i would even make an appt with to try and see about getting back on a loosely restricted diet

  4. Registered: Jul 19, 2011

    Posts: 0


    I agree i have The PKU Gel Drink every day with 9 satches

  5. Registered: Feb 20, 2009

    Posts: 0


    Hi David
    Both my sister and i have pku
    I was diagnosed after my sister had been
    tested after she was born
    I was 3

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