My little Border line Pku girl is now 5

My little Border line Pku girl is now 5

Avatar of Tracy

My little Border line Pku girl is now 5

January 6, 2013 in Uncategorized

Hello Everyone. My daughter Isabelle was diagnosed with border line PKU when she was 3 weeks old. Since then she has been poked and prodded and watched because she is "border line". We have an amazing genetic specialist and an even more amazing pediatrician whose daughter is classic PKU. Isabelle turned 5 yesterday and we recieved letters from her specialist to record food intake for the next three days. Its always nerve racking when we go because there is always the possibility that she could go over to classic PKU. Her specialist even from a young age had said how smart she was and we know she is at least three grade levels above where she is now. We were also told that they were trying to see if kids with PKU would be even smarter if they were not missing the enzyme that causes PKU. Some days I feel like the state is treating her like a guinea pig and other days I am thankful she is being watched. I know that she will need to know what is going on and that when she has kids that they will be classic PKU or borderline but I just wish they wouldn't stress it as much at this time in her life. When she was born I thought I was going to have a nervous break down because of the pamplets the state sent us. In bold were the words PKU CAUSES DEATH AND MENTAL RETARDATION! As a brand new parent who had a C-section and a hard pregnancy that was just ALOT to take. Going to Dr. Basinger was the best thing ever because she was able to explain to us what exactly this was and how rare borderline PKU was. My head still spins with all the information that I have to keep up with. Like knowing that if I had another child they would be borderline or nothing. We now see the specialist every 2 years which is nice but this has been a roller coaster. I am thankful that there is a PKU site that I can go to to talk to about everything. So Hello ALL! alt
Add Comment Register


Your email address will not be published.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....


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