Category: Patients

Erin Poyant
Senior Manager of Education and Awareness
Amyloidosis Research Consortium

My father and I at my wedding in 2007 

My father became sick with amyloidosis before our family even knew we were at risk. Like so many families navigating rare disease, we overlooked symptoms because we thought they were explained by something else. By the time we discovered that my father had hereditary ATTR amyloidosis, caused by a specific genetic variant called V122I, he was already in serious trouble.  

He died without knowing he had passed this genetic risk on to me. In a way, I’m grateful for that. I know it would have crushed him. Those genetics mean the story didn’t end with him though. It’s continued with me. 

A Pattern of Frustration

I was frustrated when my father was first diagnosed in 2014, knowing how sick he was and how little we understood at the time. That feeling deepened when treatment and research for amyloidosis came just a little too late to change the course of his disease in a meaningful way. 

I was frustrated knowing I could pursue genetic testing, but I couldn’t see what those tests would change if no treatments were available to me yet.  In 2020, I buried those frustrations with my father. 

In 2022 I started experiencing numbness in my right hand and right foot. No doctor’s office or emergency room could tell me what was happening. Something told me to call my father’s amyloidosis team. They recommended genetic testing and this time I did not hesitate. I got tested. 

But even then, the frustration followed. I found myself explaining, step by step, to my own primary care provider why testing was necessary. I was met with pushback, only to be told later it was a good thing I had advocated for myself. 

I had watched my father suffer from amyloidosis. I had been stuck as an observer while the disease lurked in the background, possibly waiting to impact my life too. Even once I decided to get genetic testing, I faced challenges. 

Living in the In-Between

Today my doctors monitor me as a symptomatic V122I gene carrier of ATTR amyloidosis, though I do not yet have a confirmed diagnosis. I’ve been treated with diflunisal since 2024 and am cared for by an expert amyloidosis team at a leading amyloidosis center. I have monitoring. I have awareness. And I have something else: uncertainty. 

Maybe I have no amyloid deposits. Maybe I do and they’re just not detectable with the tools we have today. The theme of my frustrations continues. I couldn’t take action when my family and I didn’t know what was affecting my father. I didn’t get tested when a result would have had me living on eggshells with no clear course of treatment. Now I still feel limited as I experience numbness and impossible-to-ignore sensations some days and feel okay on others. 

I am being monitored closely. If and when I develop clear signs of cardiomyopathy or peripheral neuropathy, there are treatment options available to me, options my father didn’t have.

But only if. Only when. Not right now. 

For now, I live in limbo. In a life in-between. Between gratitude for progress in amyloidosis as a whole and the reality that there are still gaps and more to be done. 

When Frustration Became Action

For a long time, the in-between felt isolating. Advocates talk about diagnosis, treatment, and survival, but they don’t always talk about what it feels like to live in the in-between. To know something about your future, but not fully. To know information that affects not just you, but your family. To sit with questions that don’t have clear answers yet. 

But at some point I realized something important: this didn’t have to end with uncertainty. If the in-between felt this way to me, it must feel this way to others. And that was the first thing in this whole journey I could actually do something about. I could be the advocate talking about the life in-between. I might be stuck here for now, but I’m not stuck doing nothing about it.

Today I use my voice, personally and professionally, to build awareness in my community and among healthcare professionals. I can help elevate providers in the amyloidosis field, bring greater visibility to methods of care, and make it easier for patients to access that care and find answers. 

Most importantly, I can listen to other people’s stories. Even when I don’t have all the answers, I can help others feel less alone living in the in-between. Hereditary amyloidosis may be part of what my father passed down to me, but it’s not the only thing. He also passed down awareness, connection, empathy, and a different path forward for the next person. 

My father holding me as an infant in 1976

What We Pass Down

My father passed a lot down to me. Those of us living with genetic risks might pass things down to our children too. I want to pass down the same kind of legacy my father gave me. Not just awareness, but connection. Not just risk, but action.

That’s one of the reasons ARC’s upcoming webinar series, Our Story: Understanding V122I ATTR Hereditary Amyloidosis, matters so much to me. Our Story is about all of us carrying the V122I variant. These webinars are a place for those impacted by V122I to learn from experts, hear real experiences, and feel part of a community that understands what they’re living through. 

I cannot control what my father went through. I cannot control the fact that there is still uncertainty in my amyloidosis journey, but I can control what I do with that uncertainty. I can choose to speak. I can choose to connect. I can choose to create space for conversations that weren’t available to me before.  

It’s not just my story. It’s our story. As my dad would say, “we got to keep on keepin’ on.”

 

Live Webinar | April 23 | 7PM ET

Our Story Webinar →