A possible mother with PKU

A possible mother with PKU

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A possible mother with PKU


November 20, 2009 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.

1 Review of A possible mother with PKU

  1. Registered: Feb 26, 2007

    Posts: 0

    Chicago, Illinois

    Have you taken a blood level to test if they are elevated? I’ve never heard of anything like that. Classical PKU patients have blood phe levels of over 17. Someone who is hyper-phe, or a milder form, won’t have levels nearly that high but might still be higher than what an non-PKU individual would have. (I think for someone without PKU will have blood levels of 1-2). I suppose it’s a possibililty that you were hyper-phe but had levels so low that you weren’t treated & were ok. A blood phe test should tell you if you have any elevation in your levels. Also, did you ever get your second daughter tested?

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