New to PKU

New to PKU

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New to PKU

February 14, 2011 in Uncategorized

My daughter who is 10 days old has PKU. This whole thing has me very upset. I know there is worst things out there which would be worse to have. Can anyone gives me assurance that everything will be ok. Her first week of life was not what I was expecting . I am trying to learn as much as I can so I can be prepared for the future.

12 Reviews of New to PKU

  1. Registered: Jun 27, 2009

    Posts: 0

    , New York

    All of the parents here know exactly what you mean. It has been over ten years since I got that phone call that has brought most of us in this community together. The call that shattered our dreams of perfection.

    Gone in a flash were the dreams of Molly coming home from school and having milk and cookies as she shared her day with me. Gone was the image of going out for an ice-cream to celebrate her home run in t-ball. The idea of family gatherings filled me with dread instead of joy. The food that was always present, but in the background, began to consume my thoughts. I looked on with envy as family and friends fed their babies and toddlers food off their plates with abandon. I wanted to wring their necks when they complained and worried about what seemed to me the most inane concerns. I wondered what we could have done to deserve this diagnosis.

    I just wanted to enjoy my baby and not worry so much. I just wanted to fast forward, know that she was ok, and then rewind and enjoy Molly instead of always worrying. I should have been ecstatic when she took her first steps, but relief would be a better word to describe my feelings. That first year was so difficult.

    Hang in there and here is your fast forward:
    Molly’s Patient Power Video —

    Dealing with PKU is never easy, but it does get easier. As Molly got older and I saw how well she was doing, PKU began to take its rightful place – the background. Molly is the most amazing 10 year old you could meet. She is too smart for my own good. She is funny. She is kind. She is compassionate. She is adorable. She is stubborn as a mule (must be from Gregg’s side of the family). She is an absolute pain in my butt. I now wonder what we could have done to deserve her.

    I am not going to lie, it never gets easy, but it does get easier. There are still days when PKU kicks my butt, but they are few and far between compared to those first few months. The feeling of devastation is gone. There is still a tremendous sense of sadness at the realization that Molly will have it harder than many kids, but she is strong and she is going to be okay. Molly comes home from school and has home-made cookies and a glass of rice milk. She has her ice cream after baseball; we just need to bring it with us. The most important pieces are there, the ingredients are just a little different than I imagined.

    Your baby will be okay, and eventually so will you, but it will take time for you to get there.

    Brenda Winiarski mom to Molly 10 CPKU and Jack 8 non
    Founder of Cook for Love, Inc.

  2. Registered: Dec 13, 2010

    Posts: 0

    MF, Oregon

    Cook4Love hit it right on the spot. For me I cried for a whole year almost daily, but then again I had no moral support from family. They vanished. So my hope for you is that you have people that can surround you both with the comfort and LOVE that you will surely need. It does get easier almost like it’s always something that you’ve done. It’s just food. I try not to make it such a focal point in our life. Though it is mine as a mom. I get to stay home and nurture my son and make him feel likes he’s extra special. I also decided to home school him and the rest of my children, for me it was easier. I don’t have to rely on someone else messing him up. lol

    There is always new things to learn with pku. Take it easy, try not to overwhelm yourself. Listen to your nutritionist. Ask lot’s and lot’s of questions. I find it is helpful to have someone by your side to help grasp the answers if you missed something.

    I’d say personally for me I’ve learned how to be a better cook. Making new things with lots of ingredients I would never have even thought of using before. And I recommend cook4love. Lots of great recipes you can’t find anywhere else. SMILE!

  3. Registered: Sep 12, 2006

    Posts: 0

    Franklin, Wisconsin

    First, and most importantly, congratulations on your little girl! Having a new baby in the family is an exciting experience, and it’s unfortunate that it has to be coupled with a diagnosis that I am sure is very new and scary to you. I cannot even imagine the emotions you must be feeling at the moment, but I am sure many parents here (including my parents) have shared the same feelings.

    However, I promise you that with proper treatment (ie diet and formula) your daughter will have a happy, healthy life. The only difference between your daughter and her peers will be in what she eats. At the moment I am in college studying nursing. I am on my college’s dance team, and I work at a local child care center. Unless you were to eat a meal with me, there is no indication that I have PKU and that is true for many children and adults with treated PKU.

    Use this website as much as you can! It is a great source of support. Use your daughter’s specialist or dietitian to learn as much as you can about PKU, and ask them if there is a PKU organization in your state that could provide some support. Most importantly go cuddle your baby girl, because she won’t be little forever ;).

    Take care and hang in there!
    ~Breanna 19 Classical PKU

  4. Registered: Feb 17, 2011

    Posts: 0

    covington, Georgia

    I do not know if this is the right spot to post but my fiancée has PKU. She is pregnant and thank god is on Kuvan, and the diet. But, I and she both wonder what it is going to be like after she gives birth.

    To give a little bit of information on this, she was diagnosed with it at birth, and was on the diet until the age of 3. The doctors in WV took her off of the diet at this age. She didn’t have any problems but when she was in her 20’s she found out that at 7 months pregnant, that she was even pregnant. 2 months after her daughter’s birth, Jennifer (her daughter) died from Congenital Heart problems caused by her PKU.
    Well last year she started to feel weird and was getting tired a lot, and having a lot of other PKU symptoms. It eventually almost is causing her to go into a coma. She decided to go to the doctor about it, and was put on Kuvan. Unknown to her the medicine wasn’t helping as much as she thought it was, so her levels were out of control when she got pregnant. She had high levels through roughly the first week or so of the pregnancy. Upon moving here to Georgia she is now on the diet. She is now 12 weeks pregnant and the baby is doing fine.
    Before she got pregnant she loved eat meat, and fast food. Will she ever be able to eat meat again? After our child is born, how restricted will the diet be if she stays on it? I apologize for all this but I am lost on it.

  5. Registered: Oct 8, 2009

    Posts: 0

    Scarsdale, New York

    My daughter is almost 17 months and has classical PKU. I felt the same way when she was diagnosed. Olivia had already spent 8 days in NICU for prematurity and I thought the worst was over until I received that dreaded phone call. I was a wreck for months. It was terrible for me and probably pretty bad for my children. The baby was receiving care, but I was so angry and scared that I let it get in the way of the enjoyment. My older daughter had to deal with my disconnect and sadness. It did get better once I started to meet other kids with PKU. Once I saw that they were living full and healthy lives I began to put it in perspective. It is still difficult especially when Olivia will not eat or drink. They are still many days when I curse PKU. But those days are fewer than when she was first diagnosed. Like the others wrote, check out cook for love. The recipes are incredible. They really helped me to realize that although my child must eat differently from others, she can still enjoy delicious foods that can be shared by the entire family. Please feel free to contact me personally if you want to chat or vent.

  6. Registered: Nov 5, 2009

    Posts: 0

    , Kentucky

    yes, i was told at 9 days old my daughter had PKU and i was given a long list of what to expect, she wont eat, she will cry like a baby with the colic, she wont grow, she’ll be a slower learner. Well my daughter is now eighteen monthes old she runs around like she has to learn everything now. she already knows her shapes, her numbers to 10 and is starting to learn her ABC’s she talks a mile a minute loves reading is wearing 2T clothes and is the happiest baby ive ever seen, not to mention spoiled rotten. So my advise is breath, and watch her diet and most of all have fun with her, cause above all else their just babys who need more love.

  7. Registered: Feb 23, 2007

    Posts: 0

    West babylon, New York

    here is some hope for you :) my name is mary caite and i am 18 years old with classical pku, my life has been a struggle with keeping on diet, although it did not hinder my chances of getting into college successfully at CW Post on long island. over the summer i was wondering how im going to keep up in college and do my diet. it got my mind running every day and i was soooo nervous!!! because no matter how hard i tried, my levels were around 17-18 which is really bad : i hate to admit that i followed a poor diet because of all of these amazing stories of successful PKU students. BUT in august i was told by my nutritionist that there was a clinical trial opened to people with pku who have high levels. its a drug called pegpal and i signed up for it. It is a shot of enzymes that are injected into subcutaneous fat in your arms, legs, or stomach. (stomach is least painful believe it or not haha) but these shots are very bearable. the first couple of months were very slow because of the very small dose they gave me. it was all done just in case of any side effects. once they got to my 4th increase of the enzyme i was at a good, steady state. my levels went from an 18 down to an 8. im still being studied going to the city once a week and donating my time and gas money to get this drug tested and passed by the FDA for it to go on market. this drug is different than kuvan which you might have heard of. both drugs are under biomarin (so it has a good reputation behind it). but kuvan only worked for 50% of people with classical pku and only worked for mainly other types. but with the pegpal, some people have shown good results and have been able to go completely off diet with classical pku! i HOPE this drug does well in the future because its SO GREAT to realize how CLOSE they are to finding better treatments for this condition. i only take four shots a week. this is without spreading them out. and to take shots rather than have a hard diet and annoying formula to drink is SO worth it. message me if you have any questions! id love to answer them, and if i dont know i will get back to you on friday and ask my doctor at the clinic for biomarin!!! i hope your daughter has a happy and healthy life <3

  8. Registered: Dec 12, 2009

    Posts: 0

    Pitman, New Jersey

    my name is victoria and i am 22…my sister (15) also has pku but our older brother doesnt…i have struggled with it as i got older…but my parents always made sure i was getting my formula and eating what i could …as long as the diet is followed everything will be ok …mostly i ate my special pasta and fruits and vegtables …the milk didnt always taste great but they do have flavored milks that could make it tasted better i personally didnt like them i stay with the one ive always been on…the hardest part will probably be doing the blood test because me and my sister used to hide from our parents when we had to do them but since then they have come out with different prickers that dont hurt nearly as much as when i was 7 or 8 …i can even do it by myself when i work up the courage …but i always wondered how my parents were able to do it and i think that they handled it great! i never get mad or think that it was there fault i am like this ive always thought that GOD choose me because he feels we can handle this and i also think that he picks the people who can handle it the best and have the most strenght so i think you will do just fine …

  9. Registered: Apr 13, 2010

    Posts: 0

    plant city, Florida

    i know how you feel! my son is now 13mths old and is doing amazing!~ the diet is very hard at first but now comes 2nd nature to us! He is so smart too! we found out when he was 10 days old as well! very upseting i remember those feelings all to well, but i promise it does get better! so much so that i am considering another baby even tho i know the possabilitys of another PKUer! good luck and we all know how you are feeling you will never be alone on the PKU world!

  10. Registered: Aug 5, 2008

    Posts: 0


    Hi there. I am a dietitian and the reason I decided to train is because my brother has PKU. He is almost 27years old and is completely ‘normal’ (if we are able to use that word). He keeps to diet as research in later life is limited but he has a job, goes out with his friend and did well at school. If he slacks with his diet he is slightly different with regards to concentration/mood but thats pretty much it!! This also applies to all the patients I see below the age of 30 years.

    Initially any condition is a shock, especially when you probably had never even heard of it. It is manageable but you must take on the support and utilise the services around you. Regular reviews, NSPKU,, vitaflo products, shs products are all needed to keep you updated and educate aboout the condition.
    If you would like any other help – let me know. Its early days so it feels like there is soo much to know – soon you will just know it.

    Jac (

  11. Registered: Feb 24, 2011

    Posts: 0

    Yonkers, New York

    Dear Grumpy78 — First, congratulations on your new baby! How wonderful to have a new little girl. And I am sorry about her PKU diagnosis. I’m writing you back to offer hope and reassurance that everything will be okay.

    My husband and I have two boys; one with PKU who we adopted from Russia a little over a year ago. Initially, when we had agreed to move forward with the adoption I was very scared about whether or not I could manage his diet properly until the baby home director said to me “I cook for 77 children each day. If I can do it, you can do it”. She was right and she did a great job taking care of him the first two years of his life. She even went to Finland for his medical formula because there are no resources in Russia.

    He’s now 3 1/2 and thriving. His hair is incredible, full and shiny (a tell-tale sign that his diet is working). He’s incredibly smart I’m told by people who evaluated him under the Early Intervention system. Managing his diet at first was easy because he’d eat absolutely anything I put in front of him. Now is a different story but I can still find things that he likes. The trick to getting him to actually like … and ask for .. his medical formula is I mix the powder in 8 oz. of coconut milk and chocolate powder or syrup. He loves it! Getting him to drink his medical formula was my biggest worry at first and now I don’t have to give it another thought.

    There are great resources online (Cambrooke Foods, Maddy’s) as well as in print. The cookbook ‘From Apples to Zucchini is terrific. Also look at the website

    I take him to Mt. Sinai’s Genetics group in NYC once a month for a check-up and blood test. While I can probably take the blood sample myself at this point and mail it in I just feel more comfortable having professionals look at him each month.

  12. Registered: Feb 5, 2011

    Posts: 0

    Fort Wayne, Indiana

    i am 32 now i was born on an army base that didnt check for pku so i went 4 mths with out the diagnosis, i also hve a lil sister who has it too. back in 99 i gave birth to a lil boy who has pku, he was born with a hole in his heart and a tear in his aorta, he is now 12. i have two more kids those of which do not hv pku. i can imagine ur anger, i am fighting the anger everyday. but i look at my kids and believe that god would hv not given me these challenges if he didnt belive we couldnt handle them. my mom took php healthcare to court beacuse they did not wanna cover myself and my sister’s medical food they calim we would not die if we didnt hv it. wrong it does irreversable brain damage and in the long run if not followed could become brain dead. she won her case and now PHP actually pays 100%

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