Family ATTR Amyloidosis Genetic Testing: Angry and Relieved

Is it possible to be really angry and really relieved at the same time?

I think so.

That's how it feels knowing that 3 of the 4 siblings in my family have now been tested for our family's hereditary ATTR amyloidosis mutation, and I'm the only one who tested positive. My 2 younger siblings both tested negative. My older sibling has never been tested and remains asymptomatic.

I couldn't be happier for them because there isn't any part of me that wishes this on anyone I love. At the same time, I'd be lying if I said there wasn't a part of me that's angry it happened to me.

Those feelings don't compete with each other. They simply exist together.

Testing positive for ATTR amyloidosis while my siblings tested negative

Hearing their results, my first reaction was genuine relief.

In an instant, so many of the "what ifs" I'd been carrying for years disappeared. I didn't have to wonder whether my younger siblings would have to live with this mutation. I didn't have to worry about what it might mean for the youngest children in our family.

I no longer found myself thinking about who would sit beside one of my siblings during annual appointments so they wouldn't have to face them alone. Long before any test results came back, I had already decided that if one of them carried this mutation, I would be that person.

For the first time in years, I could let those worries go. But once the relief settled, I was left sitting with a different reality. Mine.

What I hear from others as a gene carrier

When people hear news like mine, they naturally try to help by finding the positive.

"At least you know." "At least there are treatments." "At least your siblings tested negative." They're not wrong. But sometimes "at least" moves us past the grief before we've had a chance to really acknowledge it.

Living with multiple health conditions

The truth is, I've become pretty familiar with being the statistical outlier.

I was born congenitally blind in one eye. As an infant, my legs required casting because they developed crooked. As a young adult, I had a liver tumor the size of a tennis ball. It was so rare that I remember waking up to a team of medical students standing around my hospital bed while my doctors discussed my case. Years later, I developed one of the possible, but unlikely, serious complications listed on the surgical consent form: a small bowel obstruction caused by adhesions from that very surgery.

I've spent much of my life learning that low risk doesn't mean no risk. Rare doesn't mean absent. Sometimes someone has to be the one, and more often than I'd like, that someone has been me.

Maybe that's why hearing the words, "It's rare," doesn't always comfort me the way it might comfort someone else. I've spent a lifetime learning that rare things still happen to real people.

What is it like living with a hereditary ATTR mutation?

Now I'm learning what it means to live with a hereditary mutation that has changed the way I think about my future and the future of my children.

Hope has always been something I hold onto.

But lately, I've been left asking a different question. What happens when we feel like we have to be positive all the time?

Why we don't have to be positive all the time

I think that's where we can get ourselves into trouble.

Not because hope is a bad thing, but because we can start believing we always have to perform it. We begin to think every difficult emotion needs to end with a lesson before it's acceptable to share.

The truth is, some days I'm angry. Some days I think, "This really sucks." Other days, I'm simply tired of feeling like the exception. And I think that's okay.

It doesn't make me less grateful. It doesn't erase my resilience. It doesn't undo the hope I have for myself, my family, or for this community.

How to make room for mixed emotions

I've realized resilience isn't pretending everything is okay. Sometimes resilience is allowing ourselves to have the hard day, tell the truth about it, and then get up again tomorrow.

Today, the truth is that I am incredibly grateful my 2 younger siblings tested negative and that my older sibling remains healthy.

At the same time, I am grieving the reality that I carry this mutation and everything that comes with it.

Those two truths don't cancel each other out. They coexist. Maybe that's something we don't talk about enough, not just in hereditary amyloidosis but in life.

Sometimes healing isn't choosing gratitude over grief. Sometimes it's making room for both.