Living with Fabry disease has reshaped how I see myself, others, and God’s grace. These 5 truths from my journey might speak to yours too.

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Do you have a chronic illness? It ain’t no picnic, is it? There are good days and bad days as they say, and sometimes the bad days color the good ones. But I think there is a lot we can learn. At least I’ve learned a lot from my own chronic illness.

What is Fabry disease?

Fabry disease (pronounced fah-bray) is a rare lysosomal storage disorder that’s carried on the X chromosome. The body doesn’t produce enough of a particular enzyme (alpha-galactosidase A) to break down a certain protein (GL-3), which leads to a build-up in the cells of the body.

This build-up causes all kinds of symptoms. I won’t get into all of them right now, but they range from minor (as in non-life threatening) to major: from hand/feet pain and heat/cold intolerance all the way to kidney and heart failure.

I’ve known about this disease since I was about five years old when my ophthalmologist saw the sign called corneal whorling in my eyes. Thanks to his miraculous knowledge in a time when most doctors had never even heard of Fabry, he got the health-care ball rolling for my family.

It’s been a long road.

My family and I have been dealing with Fabry disease for thirty years now and counting. A lot has happened in that time with downs and ups. Here’s the simplified, highlighted version:

• No treatment—or cure—was available or even in sight when my family was diagnosed.
• It was believed that females were only carriers of Fabry.
• My dad and uncle received kidney transplants from their brothers in 1994. My brother and I spent a lot of that school year, it seemed, with our grandparents.
• My dad had several procedures and surgeries including spleen removal.
• Advances were made in understanding Fabry (like the fact that women are not carriers but can have more unpredictable symptoms).
• My uncle passed away.
• My dad and I started enzyme replacement therapy (ERT) in 2003/2004. It’s an IV-infusion therapy administered every two weeks.
• My dad received a pacemaker/defibrillator and then had heart surgery.
• My dad died in 2015. He lived probably twenty years longer than anyone expected thanks to ERT and all the care from his doctors.
• I started a drug trial for an oral medication in 2019 with several other options also in trials. Instead of a focus on extension of life, like my dad had in his day, companies are now exploring treatment options for better quality of life.

What I’ve Learned from Living With Fabry Disease

#1 – Don’t judge others. 

If you have a chronic illness, there are two things you constantly ask yourself: How much energy will this take and how long will the recovery time be? Always. Whether it’s for a cleaning spree at home, a fun outing with family and friends, or helping someone. 

I think sometimes that unless they live with me other people may think I’m faking. It may appear that I make time for what I want to do, which is probably true in the sense that we all do that to some degree, but there’s a price to expending energy. Others sometimes don’t get to see my recovery time. 

This makes me wonder what else could be going on in another’s life that I can’t see.

#2 – I’m not the only one.

Chronic illness can have a huge impact on entire families, but it can still make you feel alone. Like you’re the only one who wonders how long your lifespan will be and what your quality of life will be like.

For a long time I envied other people’s carefree energy, and then I’d imagine myself in their shoes. What could I do if I could live my life without carefully evaluating my energy levels? The stuff I could get done. 

I’m not exactly sure when, but one day it hit me that we all have stuff to deal with. She has crippling asthma and sometimes has trouble walking across the grocery store parking lot. He has debilitating arthritis. She has back pain that makes it painful to sit or stand.

And other people get tired too. You don’t need a chronic illness to reach exhaustion.  

#3 – I’m not too small. Or insignificant.

I mentioned a couple times that Fabry disease is considered a rare disease. That means it affects 5-6% of the population. According to the numbers, Fabry patients are a very small percentage in the grand scheme of diseases. Cancer and Alzheimer’s and asthma. Yet treatments are being made available to us.

And there was a time that experts didn’t think women even had Fabry. They thought we were just carriers of the disease who could possibly have some symptoms.

I was considered to be a carrier with symptoms when I was a little girl. I’m in my thirties now, and it’s been years since that amazing leap in understanding Fabry was made, but sometimes I still feel insignificant. I feel like I’m just a female. Not as significant as the classic Fabry male. Or as the many other diseases out there waiting for cures. I’m learning, though, that I am significant.

I’m like that little starfish on the beach that the sweet-hearted little boy is trying his hardest to save. Picking up as many as he can and chunking them back to the waves. All in the hopes of making a difference in even one life.

#4 – Do a little at the time. 

There’s so much that I want and need to do, and frustration can quickly overwhelm me when I’m down.

Since I don’t feel I can do everything, sometimes I do nothing. But I’ve found that when I keep on keeping on—when I do a little at the time—it adds up.

#5 – Jesus is the only thing we can rely on—not even our own minds. 

I don’t know how much time I have on this earth. I don’t know what kind of quality of life I will experience.

Seeing my dad’s struggle and how his mind was affected probably scares me more than most things about Fabry. The thought of not being able to trust my own mind . . .

My story is not my dad’s—although they are so closely linked. I’ve been on treatment for most of my life now. I’ve already been given more chance than he had.

Regardless, God is in control. He sees my days. He will neither leave me nor forsake me.

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Chronic illness can be overwhelming sometimes. It can be hard and confusing and discouraging, but there’s a lot that our valleys can teach us. We are not insignificant, and we are not the only ones struggling. And even more, we have a beautiful view of God’s care for us through our weaknesses.

How about you? Do you have a chronic illness? What have you learned from it? Let me know in the comments below.

*** This post was revised from the archives. Check out the original here. ***

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Be sure to check out these resources too…

• Chronic Illness: My Story from HISsparrowBlog
• Fabry Disease: The Story Continues from HISsparrowBlog
• FSIG – Fabry Support and Information Group
• NORD – National Organization for Rare Disorders 
• Fabry Disease News 
• National Fabry Disease Foundation
• ReThink Fabry (Resources and Support)
• Mindfully Rare (Mental Health Support)

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I frequently link up with the following: Grace & Truth with Embracing the Unexpected, Instaencouragements with Patsy and her crew, Let’s Have Coffee with Joanne Viola, and Blessing Bloggers with Deb Wolf.