Texas Born: Newborn Screening in the Lone Star State ~ PKU

Our family met Caroline and Elizabeth shortly after we moved to the town we now live in, nearly 5 years ago. These 2 gals became our babysitters for Big Boy B before Lady A came along. I knew very little about PKU when I first met them… my-my how life’s experiences become your teacher, though! So when I began to ask individuals if they would be willing to share their story for this blog series… Caroline and Elizabeth were on my list to speak with! A big thanks to them for sharing their story and helping me spread awareness! We sure wish they were still in town to babysit, but are really proud of the accomplishments they have achieved while at college and wish them all the best in what other successes life has to offer them!

Now… in their own words…

My name is Elizabeth  and I am a junior at LSU. When I was born I was tested for many disorders like most babies today through a process called newborn screening. I was then diagnosed with a genetic disorder known as Phenylketonuria (PKU) which means that my body lacks an amino acid necessary to break down high levels of phenylalanine. Basically, my body cannot break down protein so I can’t eat anything with high levels of protein like meat, fish, nuts, etc. In order to get the protein my body needs to thrive I have to drink a special formula that has already broken down vitamins and minerals that help me break small amounts of protein down. Growing up with PKU was a little difficult. Things kids wouldn’t even pay attention too like school parties with cupcakes, chips and chocolate to sleepovers that I have to be plan out in advance. A plus side to all of this is that I have met a lot of friends who also have PKU at summer camps. At camp they showed us videos of people who were not diagnosed at birth with PKU and it makes me very grateful for the newborn screening system so that I can live a practically normal life compared to the people in the videos. If I had a million dollars I would help families that can’t afford the formula for their kids or the special lo-protein foods for them that make it easier to eat according to their diet. This is a problem I have seen before of people not being able to afford this so I would like to do what I can to help. I would also help with newborn screening because it is because of that, that I am healthy and happy today so I feel that I need to help out in any way that I can. The biggest challenge of living with PKU is the fact that you always feel a little bit different. For example, just going out to dinner with friends is tricky. I have to research the menu beforehand so I can make sure they have something that I can have and then I have to bring my scale and weigh everything I eat so I can calculate the protein in it. I have been asked many times what I’m doing by the wait staff. That’s just one example of being different. I also have to give myself a finger stick to collect blood to determine my phenylalanine levels and make that they are where they are supposed to be. That isn’t a fun aspect at all. My biggest accomplishment would have to be living on my own. My whole life my parents have helped me with this so when I went away to college it was the first time it was all me, my responsibility. I feel like I have grown as a person and matured because of it. If it wasn’t for newborn screening I would not be as successful as I am today.

My name is Caroline . I recently started my junior year of college at Louisiana State University and I have a genetic disorder called Phenylketonuria, or PKU. PKU is a genetic disorder that does not allow us to break down the amino acid, Phenylalanine. It is inherited, so it is passed down through carriers. People with PKU are missing the enzyme phenylalanine hydroxylase, which is responsible for breaking down Phenylalanine. Without this enzyme the phenylalanine can build up in the body and cause damage to the central nervous system and cause brain damage. When I was born the doctors preformed a heel stick to check for various disorders, PKU being one of them.The test result came back positive for the genetic disorder.Something I would tell people who are expecting a baby is that the newborn screening process is very important. With PKU if it is not detected early and the child is not put on a low-protein diet it can be extremely detrimental to the childs well-being. It is a disease that is treatable but the sooner it is detected the higher the chance that the child does not have any of the side effects. If I had a million dollars I would probably establish more camps for children with PKU around the country. There are some camps, especially in the Texas area that are devoted to this disease. However, kids come from different states to come to these camps. I think if there were camps like them in the areas they live more kids will be motivated to go and with have the ability to go. At these camps in Texas campers do not have to worry about bringing their own food or being an outcast when they have to drink their medicine. They provide children a chance to experience a normal camp experience without the hassle that having PKU can bring. The camps provide food that is conducive to the lo-protein diet and it is all monitored closely to ensure each child gets what they need.My biggest challenge living with PKU is having to always be aware of what food is being served. When I was little and attended sleepovers regularly, it was always a challenge to make sure I had food I could eat. For example, if I knew I was spending the night at someone’s house I had to find out what they were planning on serving just to be sure I had food to eat and what I needed to bring for myself. As I have grown older it is not as much of a challenge because I have learned what to do from past experiences. But making sure I have food that I can eat anywhere I go is definitely the biggest challenge. My biggest accomplishment is probably getting into LSU and becoming a basketball manager. I would have to say this is my biggest accomplishment because it shows that even though I have this disorder I am not letting it hold me back from living my life and advancing towards my future. Also, by being a basketball manager I have accomplished being able to balance my strict diet while also devoting copious amounts of my time towards the basketball program. The experience with PKU has changed me and my family by making us more aware of the little things. For example, we can not go into a restaurant and blindly order off the menu. We have to consciously be aware of every ingredient put into the food. It has also educated my little brother and sister as they try to help us with our diet and make out medicine for us sometimes.

About Empowered Advocacy

www.EmpoweredAdvocacy.com Pediatric Patient Advocate
This entry was posted in Advocacy, Genetics, Medical, Newborn Screening, Texas Born and tagged , , . Bookmark the permalink.

3 Responses to Texas Born: Newborn Screening in the Lone Star State ~ PKU

  1. Jim Nuckolls says:

    Awesome – GEAUX GIRLS!!! Thanks Kristi…

  2. Proud to be your grandmother – I know it was hard for you girls when you were younger – I also remember making a freezer full of food for you, so you could grab something quick. I also remmber the smell of the formula and how long it took you to drink it.

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