First of all congratulations on your new son! I know you and your wife are probably feeling overwhelmed and afraid, but your son will be okay. With proper treatment he will lead a happy, healthy, and completely normal life.
I am not sure how well PKU has been explained to you and your wife, so if I say something that you do not understand PLEASE feel free to ask questions. PKU is caused when someone has a missing enzyme or an enzyme that does not work properly. This specific enzyme is used to break down an amino acid (or a small piece of protein) called phenylalanine. In people who do no have PKU the working enzyme changes phenylalanine into a new enzyme called tyrosine. Because your son and others who have PKU (myself included) do not have a working enzyme they cannot change phenylalanine into tyrosine, and phenylalanine can accumilate in the blood stream. This is why people who have PKU have phenylalanine levels higher than people who do not have PKU.
People who do not have PKU typically have a phenylalanine level between 0.5 and 1 milligrams of phenylalanine/decaliter of blood (mg/dl). People born with PKU have much higher phenylalanine levels, so they must be placed on a special low protein diet to bring these levels down. Doctors recommend that people who have PKU keep their phenylalanine levels between 2 and 6 mg/dl. This means that your sons levels are a little bit higher than recommended, but with the special formula that the doctors gave you his levels should come down.
As far as whether or not he is being given too much formula the amount of formula each person with PKU has to take varies. Because he is drinking the Penflex-1 before breast feeding he will probably breast feed less, so in the end he will probably end up drinking the same amount of liquids. The only difference is that instead of drinking straight breast milk part of his feeding will be with the formula. The formula is very important, because it provides your son with all of the nutrients he needs except the formula does NOT contain phenylalanine. If your son only received breast milk he would get the necessary nutrients, but he would get too much phenylalanine…does that make sense?
I hope this helped to clear up a few of your questions. If you have any more questions please feel free to ask them, and I (along with others on this website) will be more than happy to help you in anyway possible.
~Breanna Hardy 18 with classical PKU
First off congratulations on your son. I think when we get that devastating phonecall we are robbed of the joy of having a newborn. Know that your son will be ok. As a parent, the first year is the most difficult. When you should be full of joy at all your baby is learning, you are overwhelmed and in the back of your mind you are filled with worry. When Molly (my daughter) was first diagnosed we could not imagine what we could have done to deserve this, but very shortly afterwards we wondered what we could have done to deserve her.
My daughter Molly is now 9 and she is the most amazing yet typical little girl. She is in the 4th grade and is at the top of her class. She has an incredible sense of humor, is a complete know it all and an absolute pain in my butt — just like any other 9 year old.
When Molly was diagnosed her levels were 19 (she was diagnosed at 6 days and was breastfed)- she has what is called Classical PKU (the most severe form). Given Ace's levels, it seems like he will have a more mild form. As Breanna explained, the purpose of the formula is to provide all that Ace needs, minus the one thing his body cannot metabolize (phe).
Good luck with everything. Know that the first few months are overwhelming, but you will get through it. Feel free to send a message if you have any questions at any point. Give your wife a hug.
Thank you both for your quick responses I much appreciate them both. I have been doing alot of reading and looking around on this website and the rest of the internet and I was wondering am I right to say there is 2 forms CPKU and hyperPKU with that how and when will we find out what type Ace is?
Yes there are two types of PKU. They are treated exactly the same. The only difference is that CPKU is the more severe form of PKU, and people with this type of PKU usually have more restrictive diets than those with Hyperphe.
Someone correct me if I am wrong, but I believe most doctors can guess what type of PKU someone has based on their phe levels from the Newborn Screening. The only way to be 100% positive what type of PKU your son has would be by having his specific mutation found through a blood test. This test is very pricey though, and only some hospitals/insurance companies will cover it.
Congrats on your new baby! Both Breanna and Brenda have given you a great explanation. Breanna – I have heard doctors say that as well. Types of PKU are usually determined based on your beginning blood levels.
By the way, I am Katie, 25, with PKU. If you have any questions or concerns, please feel free to ask! There are so many knowledge people on here about PKU. I am sure you will find this website to be very helpful!
Thank you Katie! I thought one of my previous doctors told me that the type of PKU is usually determined from the Newborn Screening phe levels (unless someone has their specific mutation found), but I didn't want to give inaccurate information.
I am pretty sure I've heard a doctor say a similar thing.
I have read that if your level is 20 or above or around there at the highest when diagnosed then you are CPKU and if it is 5-15 then MPKU and under 5 the kind that requires no diet restrictions…I have found loads of info on the internet…
I just saw this info In the Healthcare professional section of this website there is alot of info there too all you have to do it click the link.
Thank you for sharing the link!
congratulate you both for baby and new year . I have 5 months old son diagnosed with pku at third day of his born . first of all I was so sad and frustrated . but I found this forum and ask my questions . and then find my lost hope here , because people here guide me very friendly and hearty .