New to PKU

New to PKU

Avatar of Julie

New to PKU

June 22, 2010 in Uncategorized

I am new to blogging and new to PKU. My name is Julie and I had my first child on February 9th in Anchorage, AK. He is a healthy and happy baby boy. When we first got the call that his metabolic screening result came back abnormal I had no idea what to expect. I, like so many people, had never heard of PKU. We thought maybe Ashton was diabetic (we had no idea what the newborn screening even tested for). My husband met me at our pediatrician's office where a doctor we had never met (our regular pediatrician was on vacation) tried to explain PKU to us when he very obviously didn't know anything about it either. He shoved an internet printout explaining PKU at us and apologized. The whole meeting lasted no more than ten minutes and my husband and I just sat there in complete shock. The only words I heard were "mental retardation beginning at 6 months of age." I left the doctor's office thinking that I would have to watch my son slowly deteriorate. We were so heartbroken. There is no PKU clinic in Alaska. I think there are only about 50 people in the entire state that have PKU. So it was a rough few weeks after we initially found out the news. The pediatric nutritionist in Anchorage told us that Ashton had to be actually diagnosed with PKU in order to start the formula and since his second blood test, the diagnostic test, was held up for some reason, we didn't start Ashton on the formula until over a week after we learned he had a heightened phe level. The formula was there, they just wouldn't give it to us. We learned later that he should have began it right away. It is frustrating to me that so little is known, even in the medical community, about PKU. We need to raise awareness, especially in places with a small, spread out population so that no parent of an infant with PKU has to leave a doctor's office without the reassurance that their baby is going to be okay. Now that I know more about PKU I just feel thankful. I'm thankful that there is a newborn screening test that tests for PKU, I'm thankful that PKU can be controlled by diet and that my son can be perfectly healthy. Ashton is over 4 months old now and he is so active and bright. I do wish that there was a better support system here in Alaska - I would really like to get in touch with other people who have PKU and/or family members with PKU.

8 Reviews of New to PKU

  1. Registered: Feb 1, 2010

    Posts: 0

    Tucson, Arizona

    Wow, how sad that situations like that are still happening! My parents had a very similar situation when I was born and they got the phone call on a Saturday morning by the pediatrician. Welcome to the online PKU community. I’m glad that you have this support system, at least! Please feel free to pick my brain anytime. I’m glad that you have the attitude about PKU that you do now. It really is manage-able and I’d like to think that we can be “normal” and “productive members of society”!

  2. Registered: Apr 24, 2009

    Posts: 0

    Cornwall, New York

    I am so sorry you went through that horrible experience! Let me introduce myself… I am Katie, 25, from NY. I have PKU. You are absolutely correct — Your son can live an extremely healthy life by following his diet. Not only did I graduate high school, go to college, but I am about to finish my masters degree. There are plenty of successful PKU adults out there… (and children!) It annoys me so much when I hear clinics telling newborn parents all the negative parts of PKU and not focus on the positives….. like he can be fine! I think you will find this website helpful…. There are plenty of people on here that can support me when I say PKU is not the worst thing to have. I have seen tremendous change in PKU in the past 5 years alone… when I was younger, there was 1 formula — we now have over 70! I am sorry to hear you do not have a strong clinic where you are. Do you consider traveling to another state for care? When I was born, Boston had the best clinic at the time. My parents decided to travel three and a half hours to the clinic for me to receive proper care. I understand that can be very costly, however it will put you at ease with your baby. Stay dedicated with finding other PKU patients in your state. Fight for your son. Please let me know if you need anything… I am more than happy to help out…. most of all, congrats on your baby and enjoy that little guy… before you know it he will be another healthy and happy PKU adult too! My e-mail is Feel free to e-mail me.


  3. Registered: Sep 12, 2006

    Posts: 0

    Franklin, Wisconsin

    I am sorry that you had such a rough start and such limited information when your son was born. If there is anything we can do you ease your mind please let us know.

    My name is Breanna. I am nineteen, from Wisconsin, and I have PKU. Like Katie said your son will be just fine with proper treatment. Many of us on this website are doing wonderful today, and the only indication that we have PKU is the way we eat. I am a firm believer that with proper treatment PKU is nothing more than a dietary modification with a few added tasks. It is also important to know that the treatment for PKU has come so far just in my lifetime. When I was a baby there were only a few formulas. Now there are over seventy formulas that come in the form of tablets, capsules, candy bars, etc and new medications to treat PKU are becoming available. There is no telling how far our knowledge of PKU will come in your sons lifetime.

    The internet is a great place for support! If you are trying to find others in Alaska to network with you might want to try the PKU listserv. The PKU listserv is an emailing group that is made up of over 2,000 PKU patients, parents, family members, and professionals from around the world. If you are interested in checking the listserv out you can follow this link


  4. Registered: Feb 2, 2010

    Posts: 0

    Palmerston North, INTERNATIONAL

    Wow your story with Ashton sound similar to something that happened to my Mum when my older brother was diagnosed with PKU.
    My brother was the first child to be born with PKU in NZ about 5 or 10 years, apparently things weren’t very organised with the medications and stuff, and ofcourse my parents were terrified.
    Anyways, things got sorted out and my parents had me XD both my brother and I are very healthy, Aaren has a job with the NZ railways as an electrician and I’m studying at Uni for a Certificate in Glass Design and Production and plan to move to a Bachelor of Applied Visual Imaging. If you stick to the diet for your boy he will grow up happy and healthy and live a normal life., I remember my mother saying that when we were babies it was tough because she thought that every slip-up or every blood that was slightly higher would damage us for life, fortunately that wasn’t true.
    Anyways if you have any questions I or anyone else on here would most likely be more then happy to help, and if you would like I could put you in contact with my Mum? It may be helpful to have someone to talk to who will understand it all and she’ll be able to share stories of naughty/silly things my brother and I did while growing up XD
    Congrats and Good luck with your son, he looks gorgeous :)

  5. Registered: Nov 12, 2009

    Posts: 0

    , Georgia

    I am so sorry about what you had to go through. I also just had my first baby in October, and got a call from his pediatrician when he was only 4 days old. Unfortunately, I received the call on a Friday, so we had to wait until Monday to take Dylan to the clinic. I was devasted for months after reading all the terrible things about PKU on the internet. After talking with Dylan’s dietician a million times and talking with people on this website, my mind finally feels at ease. Yes, our babies are going to have to eat different than their friends, but that is the only difference that they will have (except I’m sure they will be cuter than the other kids!! HaHa!!). I don’t know about you, but Dylan’s diet is becoming second nature to me, and I really don’t get near as stressed anymore. I really hope that you can start getting more support in your state. I live in Georgia and we have a very good clinic. I’m just disappointed that there are no laws in Georgia mandating insurance to pay for medical foods, but hopefully, that law will pass soon.

    Please feel free to send me a message anytime. And congrats on your sweet baby!! Enjoy every second you can, because they really do grow up way too fast!!

  6. Registered: Feb 1, 2010

    Posts: 0

    Tucson, Arizona

    Hi, all. Malany (glassie) had a great idea. My mom is always happy to talk to other parents about her adjustment to the diet. I might talk to her about starting an account on here so the parents out there with babies can talk to a “vereran PKU parent” if you’d like. She may not be really great about keeping up with her account, so please feel free to contact me personally and I can share her email address. I just realized that on this website, it seems like a lot of PKU teens and adults or parents of newly diagnosed babies (the occasional exception, like Brenda!) and while we pku adults are probably helpful in realizing that the PKU lifestyle/diet isn’t the end of the world, we often can’t relate to the shock of what is PKU? and what do I do about introducing foods? etc.

  7. Registered: Apr 23, 2010

    Posts: 0

    Park City, Kansas

    Hey Julie
    I am Amy I am 40 years old and I do have what is called classical PKU. I understand how frustrating it can be to not be able to have your own Dr. not know hardly anything about the disease. When I would mention my condition to a DR or even nurse all they would say is well “is’nt that a childhood disease” or ” I have read it int the books but our classes in college never went over what it is.
    Your son is adorable and know that if you keep him on a low protein diet and follow the instructions of the dietitian he sees specifically for PKU then all will be well. One huge suggestion that I have is DO NOT LET ANYONE TRY AND TAKE HIM OFF THE DIET AT ANYTIME IN HIS LIFE.. You see I have done lots of research over the years so I could answer peoples question better and discovered that even after the age of 6 and into teen years your brain still develops and having high levels can hinder growth. Plus he will just feel better all around. I would be delighted to help you anyway I can, how ever I live in Wichita Ks. But I can give advice on PKU,or anything else you want to know. I do have two teenagers and luckly they do not have PKU. I have been married for 19 years and my husband has been a wonderful help to me. Please feel free to e-mail me at anytime. I hope to hear from you. I know at times it will be rough, I have been through it.
    HOPING to hear from you
    Amy Lou Blough

  8. Registered: Jun 23, 2006

    Posts: 0

    Meeteetse, Wyoming

    I’m so very sorry that you and your child had a difficult time getting started early in his life. It’s always difficult to learn that someone has a rare disease, especially when not a lot is known about it. I’m Kenneth, 21, living in Wyoming and I am currently working on my bachelor’s in Emergency Management. I’ve been an EMT for 2 years and I can assure you that as long as the diet is followed, your child Ashton, will live a perfectly normal life. Your story was wonderful to read. I hope things are going well for you at this time.

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