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3 Things I Wish I Had Known About My Phenylketonuria Journey

For most bravely battling any form of chronic illness, whether it causes physical or neurological problems, being better sounds like the dream. Waking up symptom free and going about routines with ease, every single day, sounds wonderful.

I agree completely. I am a rare disease patient that thought my dreams of being better were only dreams. I was born with Phenylketonuria, which is more commonly known as PKU. It is a metabolic disorder in which the enzyme to process phenylalanine, a protein amino acid, is missing or defective. Standard treatment has been a highly restrictive, extremely low protein diet and medical foods and formulas to supplement because most everything but fruits and some vegetables have too much protein for the average person with PKU. The treatment is almost impossible to maintain perfectly, and anything less than perfection causes excessive levels of protein to build up in a PKU person’s bloodstream, which is highly toxic to the brain. Most foods are unsafe for people with PKU.

I am 40 years old and tried hard to adhere to this very difficult treatment my entire life. Outwardly, I have always looked “healthy” (and even athletic and well sometimes), but inwardly I constantly wrestled with a host of mental and cognitive problems as a result of my condition.

In 2018, my dream came true. The FDA approved an enzyme therapy for my condition. This treatment removed the need for the strict diet I had always lived with and the frequent accommodation needs that came along with that. Although this treatment is not a cure, it has changed my way of being significantly. I no longer spend significant portions of my day worrying about what I’m going to eat and how I am going to access it, and I do not struggle with the physical and cognitive effects of excessive phenylalanine in my body.

What I was most surprised about was how waking up feeling well was more of an adjustment than I realized. I also could not find many resources about how to walk through the process of getting better after feeling the effects of illness for a long time. I have learned many lessons thus far in my journey, and there are still many new ones to be understood. Here are a few things I wish I had known beforehand:

1. It can be isolating, so it’s important to find support.

There are multiple reasons this positive experience of getting better can be isolating. If you have experienced chronic illness for any extended amount of time, you have likely built up a support system of people in similar situations. If you experience a major change while those around you don’t, it can be difficult to relate. Likewise, it might feel just as isolating around those who never experienced an illness or physical limitation like yours. It is a circumstance that not many people go through. Chronic illness has unique challenges and those that have not experienced it cannot easily relate. Own the uniqueness of what you are experiencing.

You might also find that some of your relationships interacted in certain ways because of your condition. Relationships might change in surprising ways. Allow yourself to acknowledge this and find those who will support you. Recognize that not everyone in your life will be able to do so. Understand that relationships change any time there is a major life change, with or without a chronic illness. A good therapist can help you navigate some of these feelings in a healthy way.

2. Just because your health improves doesn’t mean you change overnight.

When you have lived with your situation for some time, you develop patterns and behaviors to manage symptoms and side effects. It is a very natural thing to do — it is an important coping mechanism with which to navigate life on a daily basis with a significant limitation. When your condition, illness or limitation changes significantly, these patterns don’t necessarily disappear immediately. They are ingrained and have become habits. It will take some intentionality to reverse those habits. In some ways, you will have to form a picture of who you want to be and decide what actions you need to take to get there. It can also take some time to trust that things won’t go back to the way things were. You may feel uncomfortable in your own skin for awhile — and that may cause some insecurity. It’s normal.

3. Patience is critical.

You might find yourself wanting to jump into all kinds of new things because you have more capacity. You might have dreamed of being better and find you aren’t the person you thought you would be when that happens. You might try all new things at a frenzied pace, making up for lost time. You might have any number of reactions that you didn’t expect. You might cry. You might feel sad when you think you should be happy. You might feel overwhelmingly happy at times. You might feel scared the changes won’t last.

You are experiencing a major life event. Be OK with things taking some time to process. Be OK with not knowing everything right away. Be OK with letting go of your expectations about how you thought things would be. Good change is hard, too. You are resilient. You have gotten through everything you have gone through so far and you will get through this, too.

Getty image via JANIFEST.

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