A possible mother with PKU

A possible mother with PKU

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A possible mother with PKU


March 15, 2014 in Uncategorized

Hi, I am new to all this. I am a 25 year old mother of two wonderful little girls, Dy-ana 5 and Arie-ana 2 1/2. My girls have struggled since birth with weight gain development delays across the board and poor muscle tone. My 5 year old Dy-ana still doesn't talk. She understands everything you say to her though. I have been trying to figure out what's going on with them since Dy-ana was about one because she wasn't walking or crawling and just seemed to be having a rough time at it. She eventually crawled at 14 months and walked at 26 months. When Arie-ana was born she seemed to show the same traits as her sister, execpt she did everything a little bit earlier than her sister. Dy-ana was born in the hospital and I think they did the first test but I never did the second round of testings and Arie-ana was born at home and I never even thought about her being tested. Having two kids with this muscle tone disorder I decided to take them to a genetisis and see what's going on. She called me up on wednesday and told me she thought that I might have a mild form of PKU, first time I have ever been told I might have PKU, which could have caused my girls disabilities. I don't display any of the signs of PKU execept that I don't do well in social situatations. But I was raised as a vegetain so we didn't eat aIot of things high in protien and I continue to be a vegetain. I guess my question for those of you who have had a confirmation that you do have PKU, have you ever heard of something like this? Any information is useful. Thank you for taking the time to read our story.

6 Reviews of A possible mother with PKU

  1. Registered: Apr 24, 2009

    Posts: 0

    Cornwall, New York

    Hi there… My name is Katie, I am 25 and have PKU too… Mild Pku…. When you say you were raised as a vegetarian – your parents probably had your eating some protein (for example, certain beans with higher amounts, rice, tofu, etc.) to replace the protein you were not eating in like meat or fish… If you have mild pku it could be possible that you did not realize your protein levels were high…Also, if you did not eat those higher amounts of protein foods (beans, rice, tofu) then your body could have been extremely deficient in protein making you sick… the way I obtain proper amounts of protein that my body can handle and needs is through formula… The formula elimates the “bad” protein my body cannot handle and contains the protein my body can… SOunds complicated – but if the doctors do decide this is what you have… they will be sure to support you throughout all of this so you can learn what you should be eating… In the meantime, remember…you are a great, loving mother… If you have any other information please feel free to contact me on here or via e-mail… My e-mail is katiemag16@aol.com.

    best of luck to you!!! katie

  2. Registered: Aug 12, 2006

    Posts: 0

    Orlando, Florida

    Hi, my name is Chrissy and I have classical PKU and was diagnosed at birth but my older brother was diagnosed when he was almost 2 years old and suffered developmental delays and poor muscle tone. I know you said something about one of your girls being tested but my question to you would be were the girls tested specifically for PKU and did it come back negative? Since PKU is a genetic trait there is a chance the girls could have it and I would look into it further. If they do have it, putting them on the right diet can do wonders for there developmental progress as it did for my older brother. I hope this helps at least a little and if you have any questions just let me know … I would be glad to help if I can.

  3. Registered: Sep 12, 2006

    Posts: 0

    Franklin, Wisconsin

    Hi my name is Breanna. I am eighteen, and I have PKU. Katie is definitely right. Even some simple foods such as beans, milk products, etc have too much protein for people who have PKU. I would first suggest having yourself and both of your daughters tested for PKU. The test is a simple blood test that will test the amount of phenylalanine (an amino acid found in protein) in your blood. If the amount of phenylalanine in your blood or your daughters blood is too high this could indicate PKU. The reason I suggest having your daughters tested as well is because untreated PKU can cause developmental delays, and it is better to eliminate the possibility of your daughters actually being the ones who have PKU rather than worrying. If your daughters do have PKU they will need to begin a low protein diet that means they will not be able to have meat, dairy, beans, nuts, and most grain products. Because people who have PKU are not able to eat a variety of foods, they must drink a metabolic formula. This formula is similar to baby formulas (though it can come in the form of tablets, capsules etc). It will provide your daughters will all the nutrients that there bodies are missing out on. Good luck! And please let me know if there is anything I can do to help.

  4. Registered: Jun 27, 2009

    Posts: 0

    , New York

    Did the geneticist do blood testing? Were you raised a vegetarian for medical reasons? A simple blood test will give you the answers you need. Go to the clinic finder on this website to see where a local metabolic clinic might be. You will likely get quicker results this way.
    Good Luck with everything!

  5. Registered: Nov 1, 2008

    Posts: 0

    Wyoming, Michigan

    First let me say that I feel badly about the situation you find yourself in right now. Unfortuately, I have never heard of a situation like this before. I am available to help you in any way I can. I was diagnosed as a infant, and remained on diet for most of my life, until after the birth of my son. I was taken off after I finished nursing him. I returned to diet in August 2008. I hope things turn out well for you and your family.

  6. Registered: Nov 18, 2009

    Posts: 0

    , Utah

    Danathurm, I don’t feel bad about my situation because I have two of the happiest and sweetst girls ever! All I want is to help improve their lives the best I can. If there is nothing to be done to help them it’s ok because I wouldn’t trade them for anything!! I am thankful for all the info from everyone!

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