Easter is here again. I’ve struggled with what to write; I wanted to do a post in honor of this time. I thought about a “back to roots” type of article, but it wouldn’t flow. I’ve learned this usually means God’s not in it, so I shouldn’t force it.

I’ve had the idea for a while now to write “my story” or at least part of it. To tell the truth, I dreaded it. How could I possibly put everything into words?

I also questioned why I would tell my story now. Easter is about Christ’s triumph over death. But it’s also about the hope he’s given us. Christ is risen. I’ll tell my story because it points straight to Him, and that’s what Christ accomplished on the cross.

There are many parts to my story. I could tell how God got my attention at eight or maybe I could tell how my family survived a tornado. But I feel led to tell you about my Fabry journey, which begins with my dad.

Lives changed.

When I was five, my mom took me to the ophthalmologist. What was supposed to be a routine appointment changed our lives. The doctor found corneal whorling, meaning I probably had Fabry disease (pronounced fah-bray). Fabry is carried on the X chromosome, which meant my dad would have it, too. The doctor asked how many brothers my dad had; there were four. He said one or two of them would have it, and one did – Rick.

I don’t remember too much about that time, but I’ve heard about that appointment and what it was like after a lot. My family thought my dad was given a death sentence. There was no hope. No cure. No treatment. The average lifespan for a Fabry patient at the time was 38-40 years old.

I suppose it’s time to clue you in on what Fabry is. Here’s the short version: the body doesn’t make enough of a certain enzyme (α-gal A) to break down a certain protein (GL-3), leading to a build-up in the cells. This build-up leads to cell damage, which leads to many symptoms. The symptoms include:  numbness, tingling, and/or burning in the hands and feet; pain attacks that usually include body aches, fever, and fatigue; intolerance to intense physical activity; chronic fatigue; hot and cold intolerance; reduced or no sweating; red skin lesions; gastrointestinal issues; ringing in the ears; weakness, lightheadedness and/or vertigo; kidney failure; heart attacks; strokes; and more.

After diagnosis.

It was a wild ride after diagnosis. All the doctors could do was treat the symptoms for Dad. It was doctor appointment after another with some stays in the hospital, but even through the hard times, God’s hand was evident.

• Dad and Rick were given kidneys from their brothers.
• We found an amazing group of doctors who actually knew what Fabry was. They understood you can’t treat the kidneys without taking the heart into account. Everything fits together more so with a Fabry patient.
• Patients were few but willing to help in studies, and strides were made in understanding Fabry and treatment.  When I was in high school, a treatment was made available. Originally, we thought we would have to travel to New York to receive it, then Atlanta; and we didn’t know if insurance would cover it. But God provided treatment we were able to receive in the town closest to us.

Today.

Unfortunately, both Dad and Rick have passed away. I’m happy to say Dad lived much longer than he expected (almost twenty years!), and he had several good months after heart surgery. He felt good.

I go to my awesome treatment center every two weeks and receive an IV infusion. I get tired, but my symptoms are exponentially better now than before starting treatment. Maybe I won’t have organ damage because I’ve been taking treatment since I was young. This was Dad’s hope: that his sacrifice would lead to a better life for me.

Hopefully, in the future, there will be other treatment options. Three other treatments are in the works right now and one or more may allow us to take oral medication.

What I know.

My family’s been through a lot, but I know God’s been there every step. He’s working not in spite of Fabry but through it.

I also know this isn’t the end. I’ve got as many days as God gives me to live, regardless of any disease I have. Fabry doesn’t define me, God does. Fabry is just one of the many parts of me—part of my story—that point straight to God.

And I know now that I don’t need beautiful words to tell my story. I just need to tell it.

What’s your story? Where do you see God strongest through the hardness around you? Share in the comments.

Additional Fabry Resources

• Fabry Disease: The Story Continues from HISsparrowBlog
• National Fabry Disease Foundation
• Fabry Disease News
• Fabry Support and Information Group (FSIG)
• ReThink Fabry (Resources and Support)
• Mindfully Rare (Mental Health Support)