A possible mother with PKU

A possible mother with PKU

Avatar of Emme

A possible mother with PKU

by

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?

Add Comment Register



Comment

Your email address will not be published. Required fields are marked *

Comment *

You may use these HTML tags and attributes: <a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <strike> <strong>

Processing your request, Please wait....

    Archives

Quick Poll
Which of the following best describes you?
Parent/caregiver of an infant with PKU
Parent/caregiver of a child with PKU
Teenager with PKU
Adult with PKU
Grandparent of a child with PKU
Know someone with PKU
Healthcare professional