PKU as a whole will not hinder Lauren or any other child from living normally for the most part. Mom does wander about certain things and aspects of Lauren’s adult life. Will it be weird for her to cook a normal diner for her family and not be able to eat it? Will she have any children with PKU? Will there have been a treatment that allows PKUers to eat normally or not have a limit to their PHE?
Only time will tell….
On June 2001 when Lauren was officially diagnosed and had her first appointment with her dietician, they gave mom a huge three ring binder that had almost every food and brand that made it inside. It was called The Low Protein Food List for PKU. Sometimes different brands made a food differently and would cause a food to be higher in Phe. We carried this everywhere with us, to the grocery store, out to eat, everywhere. Whenever mom had a question about a food, she broke out the binder.
About two years ago, through one of mom’s PKU social media groups she found out about How Much Phe. It’s an app that she can record her Phe, and mom can see it from anywhere else. That is a huge blessing, and also it refreshes much easier and faster than that binder because new additions were only made every 5 years. Plus, neither mom or Lauren had to carry the binder anymore!
In February, my church takes a youth trip to Gatlinburg and this year Lauren went without my mom, which was a big deal. Lauren doesn’t measure and weigh all of her food yet. She can make her milk but can’t do everything else just yet. In order for this to be a smooth trip, mom talked to the ladies in charge of feeding the kids and coordinated with them so she could send food that went along with what we ate. Lauren also logged her food into her How Much Phe app so mom could help her out with some over the phone guidance.
Summer camp was a little more challenging because they were cooked meals for an entire week. CYC they ate out some, and just about anywhere has fries so that’s easy for her. For summer camp, mom had to pack all kinds of food to send for Lauren so she could have a variety to match what the other campers were eating. She pre-measured Lauren’s food also to send. Life with PKU is definitely never boring!
Birthdays and Holidays are joyous times filled with lots of delicious foods. For PKUers things are a little more complicated. Through lots of trial and error and momma has lots of neat recipes for Lauren to make the holidays a little more normal.
At Thanksgiving, Momma can make Lauren her own Low Protein dressing, and carrot cake. So along with that, Lauren eats a plate full of vegetables. Thankfully, she loves them! Then for Christmas, she has her dressing and momma makes her a PKU red velvet cake.
Birthday parties present the same challenges but nothing too major. Lauren and other PKU kids can have all the sugar they want. While the other kids eat birthday cake and ice cream, Lauren eats the icing off the cake. Which I told her is the best part to me and cool whip to replace ice cream.
Most people when they go on vacation are busy packing their suitcases, making hotel reservations, booking plane tickets, and maybe even renting a car. Normally, the last thing on their mind to PACK is food, right? Well for a PKU family, you always have to think about packing food. It’s always at the top of my mom’s packing list. Clothes she could buy more of at our destination, Lauren’s food not so much.
In February 2016, Lauren’s cheerleading team made it to Nationals in Orlando Florida. Immediately, mom started posting in her PKU groups and researching and found that since Disneyworld is such world wide travel destination they actually had PKU foods on hand that could be cooked for Lauren. This was the first time we had ever heard this. Mom talked with some Disneyworld employees and found out what foods they had. This was a huge deal because it meant she didn’t have to bring Lauren’s food and cook it and bring it in to the park.
Lauren ate lots of French fries that trip because they are her favorite but also had some amazing dishes. One place made her some LoPro Pasta with a special pasta sauce that was out of this world! By maintaining a healthy diet, Lauren can be completely normal!
PKU is such a rare metabolic condition that there aren’t many big campaigns for research and awareness. There are only 22,000 babies born in the U.S. a year with it. While that sounds like a big number on the grand scheme of things it isn’t at all.
There is however some foundations dedicated to PKU research and awareness. Each state has it’s own branch of The PKU Foundation. Alabama’s is located in Huntsville. The National PKU Alliance is a collaboration of PKU community members joined together to be the nationwide voice. My mom has taken Lauren to several PKU events around the state, including a PKU Picnic. Lauren has also gone and spoken to classes of medical students at The University of Alabama at Birmingham (UAB) about PKU and why it makes her special.
Phenylketonuria (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. Loss of this enzyme results in mental retardation, organ damage, unusual posture and can, in cases of maternal PKU, severely compromise pregnancy.
Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid. Deformities in both copies of the gene for PAH means that the enzyme is not active or is less efficient, and the build up of phenylalanine in the body can get up to toxic levels. In some cases, mutations in PAH will result in a phenotypically mild form of PKU called hyperphenylalanemia. Both diseases are the result of a variety of mutations in the PAH locus; in those cases where a patient is heterozygous for two mutations of PAH (ie each copy of the gene has a different mutation), the milder mutation will predominate.
A form of PKU has been discovered in mice, and these model organisms are helping us to understand more about the disease, and find treatments for it. With careful dietary supervision, babies born with PKU can lead normal lives, and mothers who have the disease can have very healthy children.