Each year, approximately 1 in 14,000 newborn babies are diagnosed with PKU. While this new diagnosis can be scary and upsetting, the NPKUA wants to assure you that your baby can and will grow up to be a healthy individual that has every opportunity available to them in life. The NPKUA was created by people just like you -- parents, grandparents and adults whose lives are affected by PKU. We hope you find comfort, information and resources on this site, and invite you to visit us often.
We hope the following tips help you as you begin to make sense of a PKU diagnosis and what it means to your family.
First, congratulations on the birth of your new baby! We know that a new diagnosis for PKU can be a time of uncertainly and even sadness. Please remember to celebrate the new life of your baby. PKU is manageable, and you have a whole community here at the NPKUA to give you resources and support.
One of your most important partners in dealing with PKU is your clinic. There are approximately 200 metabolic clinics around the United States that provide medical treatment and services for PKU. To find a clinic near you, go to our Clinic Locator on the homepage and click on your state.
Your physician and dietician will monitor your baby’s protein intake in partnership with you to ensure that he/she stabilizes their blood phe level and keeps it at a certain level for optimal growth and development. You can still breastfeed. Your dietician will work with you on creating a feeding plan for breastfeeding and supplementing with the medical formula.
It can take at least a few months to stabilize your baby’s phe levels. This is completely normal, and their levels and phe intake may also slightly adjust over their life. Phe levels can also rise when your child gets sick. We know it’s difficult not to get upset when your baby’s levels fluctuate, but please be assured that damage from high levels only occurs when babies are off treatment for a significant amount of time.
Your baby will still be able to do all of the things you have imagined or dreamed about – they can still pursue higher education, find a rewarding job, get married, have kids of their own, etc. Yes, your life will become a “new normal,” but PKU will become just a small part of who they are.
While no one wishes to have their child be diagnosed with PKU or any other disorder, many children with PKU develop important life skills early because they have to learn how to take responsibility for their diet. This means that many children with PKU create lasting life skills in self-discipline, responsibility and accountability that helps them to become successful in life.
There will be challenges. There will be struggles. There will be difficult times. The best thing you can do during these times is to reach out for support from the PKU community. We are here with you every step of the way.
Purchase a travel digital scale to use to weigh foods when you are out in a restaurant. They are about the size of a calculator. We keep one in the diaper bag at all times.
We weigh out snacks and put them in baggies and label them with the phe amount. It’s easy to stick a few bags in my purse or diaper bag as we head out the door.
We spend one day per month bulk cooking. We double or triple a recipe, and then weigh out each serving and label it before putting it in the freezer. Low protein pasta freezes well and does not become mushy if you undercook it by two minutes.
We made it a rule at our house that none of our children could leave the table after a meal without finishing their milk. For our PKU children, this means drinking all of their formula. For our child without PKU, it means drinking all of his cow’s milk.
We bought a formula dispenser and used it while traveling when our baby was an infant. Our PKU clinic determined the calculation to use to mix individual bottles based on ounces of water. Then, when it was time for our baby to have his medical formula, we simply added the correct amount of water to the pre-measured power formula.
Our son began to help make his formula every night for the following day when he was about three years old. Yes, it can be messy, but it’s teaching him important skills. Plus, he tends to eat and drink things that he helps make!
It can be scary to do routine blood draws on your own child, but it is very easy once you learn how to do it. Regular blood draws are critical to effectively managing PKU. Many parents opt to have their child taken in to their PKU Clinic or other health care provider for these routine blood draws. After awhile, you will be ready to try them on your own. Your Clinic can help you learn how to do blood draws, but there are some things you can do to try to reduce any anxiety your child or you may have.
Some parents sing songs (such as the ABC's) to their young child as a distraction when they do a blood draw. Another idea, when your child is older, is to have them choose which finger to prick or what type of band-aid they want to put on afterwards.
Even though you may have some anxiety, try to act happy and matter-of-fact when you must do a blood draw. Your child will become anxious if they know you are anxious!
Our daycare creates a menu each month. I take the menu, determine what our son can eat each day, and then also offer a low protein substitute. We make some of the foods ourselves, but our child care center also cooks some things for our boys too.
Even before our child could talk, we talked to him about “low phe” and “high phe” foods. We chose to use these labels instead of “yes” and “no” foods because it had less of a negative connotation. By the time our son was three, he could identify which foods were “high phe” and which were “low phe.”