Help!!

Help!!

Avatar of Desiree

Help!!

September 29, 2009 in Uncategorized

My daughter was born last Monday, and they did the test on her either the 2nd or 3rd day in the hospital. Well this past Friday I got a phone call from Hershey Medical Center that her PKU level came back and the doctor wants to see her right away he wants to retest her because they believe she has PKU and if she does we need to start a diet asap because it can cause mental retardation. Well of course I freaked and we went right away. He told me that her level was 6.5 and the safe zone is between 2-6, he thinks that she deffiantly does have it but wants to be sure by retesting her. He sent us home with this special formula bbut told us not to start it yet till he gets the 2nd test results. I don't know what to think, I have never heard of this before and I don't know a soul who has it. She is a normal healthy baby other wise, with beautiful black hair and very dark blue eyes, I also have a 2 year old daughter and she is perfectly fine. Today I spoke with her pediatrician and she told me that false postives have happened, and Zoey was just over the border, is there any hope that this may be a mistake, or probably not??? alt I am so worried I cannot eat or sleep. This is all I can think about. I have been doing all the research that I can about this and nothing is making me feel any better, another concern of mine is how will we be able to afford the special foods that are out there for this? We can barley afford to put regular food on the table. Is there help for when she is able to eat solid foods? I am trying to enjoy my 6 weeks off with both of my children and to bond with my baby but that seems impossible now.

10 Reviews of Help!!

  1. Registered: Apr 24, 2009

    Posts: 0

    Cornwall, New York

    Please, please, please know that your new daughter is going to be okay as long as she follows the diet that your clinic will be able to step by step help you with! Yes, if she does not follow diet, her life can be difficult, however with the correct diet she can live a LONG and HEALTHY life. I know it is very overwhelming at first (as my mom told me). There is a lot more out there than when I was born 24 years ago. Please contact me should you need any advice on here or my email is katiemag16@aol.com.

    Most of all, know this is NOT your fault. While learning about PKU and listening for the phone call to determine whether or not your daughter has PKU – remember to take time and enjoy the first few weeks of her life :)

    Katie

  2. Registered: Apr 24, 2009

    Posts: 0

    Cornwall, New York

    and.. try to eat and sleep! She will need your energy :)

  3. Registered: Sep 29, 2009

    Posts: 0

    , Pennsylvania

    Well I just found out that yes she does have it, her 2nd test was 14.2, so now we will be using the special formula and her similac and will talk to the clini on Monday, I know I need to be strong I am still very devastated, this is just a shock to me. Thank you

  4. Registered: Mar 1, 2008

    Posts: 0

    Ithaca, New York

    I agree with Katie’s post. A lot of the research you have probably read was probably done on subjects off thier diet. As long as your daughter remains on her diet and is monitored closely, she should be fine. She may have some mild learning disabilities, but thats okay. Thier are many people out thier with PKU who have done very well. Katie ( katiemag16 ) would be a very good person to talk too. Another person you could talk too that may give you encouragement and tell you that your duaghter will be alright would be Tracy Beck. Tracy has PKU and also has a Ph.D in astrophysics and is currently doing research in an observatory in Hawaii. Her e-mail is tbeck@gemini.edu I am sure she would be glad to talk to you.

  5. Registered: Apr 24, 2009

    Posts: 0

    Cornwall, New York

    Like I said – it will all be okay! There is a lot of support out there for you! At times you may feel alone, but there is so much out there to help you get through this. Best of luck! I will be praying for you and your family! :)

  6. Registered: Mar 1, 2008

    Posts: 0

    Ithaca, New York

    You can contact me anytime with questions as well. I know you have some concerns about paying for all of this. Thier is lots of financial help that your doctors and dietician can discuss with you.

  7. Registered: Feb 27, 2008

    Posts: 0

    London, INTERNATIONAL

    Hello – my daughter is just over two with PKU. I felt exactly the same as you when she was just diagnosed, but I promise that things do get a lot easier after the initial shock.

    My little girl is doing very well both on her diet and in her development. I know I would say this because I’m her mum, but she seems to me to even be ahead of others her age in her speech and understanding – so the PKU does not seem to have affected her intellect at all. That was my big worry. She is also coping well with the diet, and she just accepts that she eats differently to others. Everyone who meets her for the first time is shocked when I say she has something wrong with her because she just appears so “normal”, bright and bubbly.

    I would say for the moment just to take things one day at a time. You have a few months before you need to worry about solids, and your dietician will help you wiht the weaning when the time is right. For now just enjoy the fact you only have two types of milk to think about – and try to just enjoy bonding with your new little one and the rest of the family (easier said than done I know). I would also say try and get in touch with another family in your area who has a child with PKU – I found it really helpful to see older children who were thriving with PKU as it was really encouraging – and their parents gave me lots of practical tips. I live in the UK so am not sure what there is where you live by way of support groups, but I’m sure someone else can help you out with that.

    Another website I find really helpful for support and advice is an Australian one called PKU tree (www.pkutree.com.au – I think!)

    Good luck and do let me know if you have any specific questions.

    Ruth (and Isla)

  8. Registered: Sep 12, 2006

    Posts: 0

    Franklin, Wisconsin

    Hello, like everyone else has said your daughter will be fine. I am not sure what Chris meant when he said that your daughter may have learning disabilities. As far as I am concerned these issues will NOT occur as long as your daughter follows the low protein diet and drinks her formula. In fact today I am attending college for Nursing and Pre-medicine, so I know first hand with proper treatment your daughter will grow and develop just like every other child. Ruth made a very excellent point! Speak with your daughter’s specialist or dietitian about meeting with others who have PKU. Most states have PKU organizations that hold holiday parties, picnics, etc for people who have PKU and their families. I am assuming you live in Pennsylvania right? According to this link http://www.pkunews.org/rights/lobby6.htm the formula should be provided to you free of charge. When you go to meet your daughter’s specialist and dietitian speak to them about whether or not the low protein foods are covered in your state. They should be able to help you. In the end the low protein diet is just that: a diet. Your daughter will not look, speak, or act differently. She will simply eat different foods, and today with so many food allergies, diabetics, etc out there it isn’t all that uncommon to see people eating differently than the norm. Please feel free to contact me either here or at completeangel@ameritech.net I am always more than happy to help when I can!

  9. Registered: May 1, 2009

    Posts: 0

    Lee, Massachusetts

    I know just how you feel.. i was hoping for that same false positive…but no my son was diagnosed with CPKU in april he is now 5 months old and doing really well, just started on cereal…i am still not really over it i just went through a few bad days I have good days too more good than bad now…Since your daughters level was only 14.2 i think that mean she has MPKU and her diet may not be as restricted. my insurance does cover my son’s formula and i don’t know about the special foods yet..let me know what you find out…

  10. Registered: Mar 1, 2008

    Posts: 0

    Ithaca, New York

    Yes, I agree that as long as a strict diet is followed, she should be fine. If the levels are too high for too long, it can affect brain development. Since this is being treated early in her development, she should be fine. Despite the strict diet, thier have been a couple of studies in the past that showed that some, but not all, pku patients had mild learning difficulties. What these studies didn’t say was how early the pku was diagnosed. Most of the PKU research out thier is on subjects OFF the diet or diagnosted later in life.

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