Managing PKU in the USA

Our next stop on the round the world tour is the USA! This one is from Joseph  M. Long, a PKU adult who is sharing his experience in managing PKU in the USA. We are very grateful for Joseph’s contribution!

Joseph is an Estimator and Project Manager for a General Contractor. He is very active at work and outside of work. Joe has been married for 20 years and does garden, build and has a lot of home projects. He likes to work with his hands as well as his brain; Joe exercises, does races/challenges, weighted rucks/ hikes and likes to build car models. He likes nature and likes to re-center himself there.   

1. How was your child or you diagnosed? How many days after birth the diagnosis was confirmed? What were the first steps after diagnosis?

I was born December 7^th, 1973. Neither parents knew they were carriers and I am the 5^th of soon to be 6 children. New born screening was not mandated and since neither parents were carriers I was never tested when I was born. I went home and wasn’t able to hold anything down for 2 weeks. I went back and tests were run and it was determined I had PKU.

My parents had to make dietary adjustments for me and my Mom kept a log of my behaviour and development I would imagine; it’s interesting to read what she wrote now since she’s shared it with me. Some of the things my Mom wrote was “doesn’t like change or to try new foods”… “he’s independent…” “doesn’t mind being alone and entertains himself..” a lot is still true today.

Since my parents now knew they were carriers, when my sister Rose was born in 1976 she was tested and her PKU caught immediately; newborn screening was also a standard procedure then. My parents had “practice” on me so they knew what they had to do with Rose.

2. What was the most difficult thing for you at the start of the low protein diet? What were the challenges?

The “drink” as I called my protein substitute tasted awful and smelled just as awful back then! I dumped it down the sink and my parents had to stand over and watch me drink it in the beginning. After a while I got used to the taste and realized the colder it was the easier it was to chug it.

Eating around non-PKU children and explaining your diet was a challenge. Children weren’t quiet as accepting or open minded back then. Grammar school was better than high school. We rarely went to parties with classmates I think because of it.

Low protein foods were a challenge for availability and cost. We didn’t have what’s available these days. We had to make almost everything from scratch and sometimes recipes flopped; you’d adjust and/or talk to other PKU families about recipes. There were PKU Groups that met and had field trips where everyone would get together and share stuff; we didn’t have emails/ texts etc. so a lot was in person.

3. Please provide an outline of the low protein diet management in your country. How do you manage your child’s diet? What low protein products are you using? What are the favourite low protein foods?

We were pretty good about staying on diet, we didn’t count PHE but stuck to mostly fruits and vegetables. We’d do regular bloodwork to track and make our own bread, cakes, cookies and sometimes pasta. I had a fantastic doctor who was looking after me very well.

I was pretty aware this was a lifelong diet to maintain and not something that went away. I vividly remember having a conversation with my Mom when I was in my teens about “ going off diet”. There were quite a few PKU kids I knew that were; there wasn’t a lot of history and the thought was after your brain developed the diet was no longer required to be followed. My Mom asked me what I thought about going off diet. I told her this was a missing amino acid and it doesn’t just all of a sudden not an issue anymore. For me and for my sister Rose we decided to stay on a diet.

One of the things I’ve realized later in life is that there is a need to eat low protein foods throughout the day more regularly to augment nourishment for focus and learning. I think a lot of any of my learning challenges could’ve been a result of this. I’d drink my in the morning before school, drink at lunch and when we got home after school. I struggled at Chemistry/Biology/ English but excelled at Math/ Drafting/ Physics/ Strength in Materials. I’ve noticed later in life eating a lo protein cookie/pastry/snack during the day improves my focus.  

I seem to gravitate to convenience foods that I can prepare quickly like bread, cheese slices, breakfast bars, cookies, yucca fries and some of the meals; these are easy to prepare at work without a lot of preparation. When I have time to prep or at home the pastas, Mac and Cheese and cheese sauces are go to’s.

4. What challenges (if any) do you face on a daily basis?

Daily challenges on a daily basis are balancing the intake of low protein foods consumption, water intake, “drink”, not eating too many carbs/ sugars, movement and exercising as a PKU Adult; as you get older your metabolism slows down and these are all factors to take into account.  

Another challenge is the ever changing coverage for foods and drinks; every year it’s a battle. My only hope for everyone with Metabolic Disorders is the MNEA Act FINALLY gets passed in Congress; last I checked it was stalled but I don’t know why because it had enough backing from what I could see.

5. Please describe briefly the way the provision of low protein foods and protein supplements is managed in your country. How do you source these products?

It’s a constant battle for coverage; insurance make adjustments yearly and look for ways to save money so they “whittle back” coverages on things they don’t understand the huge impact it has on their people they cover. Zoia Pharma has been instrumental in assisting me with coverage for both my “drink”, LoPhlex and low protein foods. The insurance verbiage is difficult to understand and navigate for the average lay person. It was a very stressful time and Zoia has eased that issue.

6. Any advice or message to the rest of the low protein community worldwide.

PKU is a manageable lifestyle. The only time you are different is when you sit down to eat. Otherwise the sky is the limit… you are only limited to what you allow yourself to be limited to. Keep on your diet and be disciplined which will also help you in other aspects of life. Once you learn and hone in your diet it will teach you how to solve or work through the many things life throws at you. It’s almost like training for life.

I’m 50 years old and I’m told we, my sister and I, are some of the very few PKU adults in our area that are self-sufficient, have successful careers and “stand on our own 2 feet”. I don’t know how true that is but it’s only because I stayed on diet and worked hard. It’s a lifestyle not something you should feel like a victim because of it.

PKU Families reach out and assist other PKU Families who are just learning about this lifestyle. We are here to help each other out.

7. Anything else you would like to add would be much appreciated and shared with the low protein community.

Parents…this will be tough but keep your children on diet and teach them how to maintain it themselves. The day will come where they will be independent and need to be more self-sufficient, set them up to be able to manage on their own. Encourage them and give acknowledge for their achievements. This will only build them up.