Community Discussion Forum New to Mother to 18 year old son

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  • #8712
    Avatar of Melanie
     Hi everyone!

    n     This is my first visit and my first post. 
    I have an 18 year old son who was diagnosed borderline PKU at birth. 
    He was tested frequently by the State Health Department and his levels were generally between 7-20, sometimes they would be between 2-3. He is a very light skinned red-head with the bluest eyes I've ever had the pleasure of looking into. He did suffer seizures when he was an infant and after being tested was not given any medications because they determined they were not Grand Mal seizures and that ultimately the medications for treatment would be worse for him than the actual seizures that he was having, we were told he would outgrow them most likely. They lasted about 3 months and as quick as they came, they were gone. He has always been a shy, quiet, friendly, loving person. I was given a copy of the diet at the time he was born, but was told he would not need to follow it and that he did not need any special provisions. When he entered elementary school he did well academically, but not socially. By the time he reached the second grade, the staff thought that he should be held back a grade due to his social behavior (he really didn't talk in school to teachers or other students- this has been pretty much the case all through elementary school, middle school and high school with the exception of 2 friends). Everything seemed to be going ok for awhile but I started noticing things changing. He began getting the shakes, his attention level seemed sometimes non-exsistant, slow to understand and follow even the simplest of directions, no ambition to do anything. Within the last 6 months things have gotten even worse, his behavior is erratic, he's doing things that I could never have imagined him to do (he was kicked out of public school permanently just 2 months ago) I have never EVER had one single problem with my son with behavior either in school or out of school until this year. His mood swings are faster than a yo-yo going up and down at times, he's severely depressed at times (even saying he wants to be dead) His appetite seems poor, his grades have dropped dramatically. He has no motivation to do anything (you can tell him to do a task 100 times and he will start the task and then stray, and gets extremely angry when told he needs to get it completed) He is content with everything being taken away from him as far as privileges are concerned, it doesn't seem to have any affect on him. I was of course attributing all of this to being a teenager. The shakes I would attribute to needing something to eat. He seems to be gradually getting worse all the way around. I am a stay at home Mom, we are a very close family – I want my son back.  Recently, my daughter who is attending college to become an RN told me that they were learning about PKU and she thought there was a possibility that all of this might be PKU related. That a lot of things had changed concerning this. I don't know much about PKU so I am here for support, and a little knowledge. I will be looking for a doctor Monday morning to have him tested. Some of my questions are this: Does any of this sound familiar? Can his levels rise over time? Is there any possibility that PKU could be affecting him this way?  What are normal ranges? How do you cope with a child who is behaving so out of character? Where do I start in finding the right type of doctor?
    Thank you so much to any and everyone who reads this and responds. 

    Avatar of Breanna

    Hi Melanie. Your daughter is right. A lot of these issues that your son has developed could be related to PKU. Issues with untreated PKU or high phenylalanine levels can range from a lack of energy, poor concentration and attention, issues with memory, mood swings, irritability, depression, tremors or shakes, eczema (skin rash), seizures in infancy, and so on. It seems like your son could be experiencing a few of these issues at the moment.

    It is very possible that your sons levels are higher today than they were years ago. When he was younger his appetite was probably smaller than it is today, meaning he could have been eating less protein when he was younger. Protein is what makes phenylalanine levels go up in people who have PKU.

    My suggestion would be to have your sons phenylalanine levels tested to see what they are at. The recommended range for people who have PKU is 2-6 mg/dl. If phenylalanine levels are any higher than this, people born with PKU start experiencing issues. If you are looking for a clinic near you that treats PKU you should be able to use the 'clinic finder' link on this website, or go to and under the tab that says 'links' click 'clinics.' Otherwise let us know where you live, and I am sure someone here will be able to help you find a clinic near you.

    Please let me know if there is anything I can do to help you.

    Breanna 18 CPKU

    Avatar of Melanie


          Thank you so much for your reply! 

    I found a geneticist in my area that I will be calling Monday morning (I'm not even sure if that's the type of doctor I should be seeking but at least it's a start) I will be looking today to see if there are any clinics in my area also. I'm glad you clarified that it is in fact possible for levels to rise and that this could be the cause of the extreme changes in my son. Honestly, he's a wonderful person! I don't want to give the impression that he's not, his recent behavior is VERY out of character! 

         I've also sat down with him and explained everything to him, which I think made him feel much better. He does not understand why he is acting this way either and he does not like it. I had not told him prior to this about PKU because I never knew that so much had been discovered. 

         All of the symptoms that you've listed above apply to my son, including the eczema – which I also did not know was a symptom. I will keep you updated after our scheduled appointment. 

         I'm happy to report that we did get him enrolled in an alternative school, he was to attend only 3 hours a day until he graduated because he only had 1 class left to finish. He takes short tests every day and was struggling to even complete them in the 3 hour time frame (the other kids in the class are able to complete 2 tests in this time frame -it was taking my son approx. 4 days to complete just 1 test) I've since spoken with the staff at the school and they have him in full time now and he's able to complete what is required of him and he will graduate March 15th. (He's put in some major work at home with us trying to get caught up so that he's able to stay on task at school).

    Have a wonderful day Breanna! I'll reply back after our appointment. 


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