Life as a Carrier: Year Four

To everyone touched by transthyretin (ATTR) amyloidosis; through diagnosis, genetics, or love, come sit with me for a moment.

If you’re new here, welcome.

We often talk about symptoms, family history, and the broader impact of this disease. What is talked about less is what it looks like to return for evaluation year after year, especially when you are living in a space that is still being defined.

Annual health evaluations for an ATTR gene carrier

On March 22, I turned 50. The next day, I began my fourth annual evaluation as a V122I carrier.
Two days.

Two days set aside to look closely at what may or may not mean something yet.

The structure is consistent. Echocardiogram, EKG, vitals in multiple positions, questionnaires, chest X-ray, bloodwork, and a fat pad biopsy. Time with my nurse practitioner to review the past year and then again to discuss findings as they come in.

Analyzing my test results

This year’s results, like others before it, did not point in one clear direction.

My fat pad biopsy came back negative for amyloid. My prealbumin, which had been abnormal in the past and was one of the factors that led to treatment with Diflunisal, is now within normal range. Since starting treatment, it has remained stable and continues to be monitored as part of the overall picture.

At the same time, not everything aligned alongside those findings.

My neurological exam was again difficult to categorize. There were some changes noted in my arm strength compared to prior visits. My vitals when standing were slightly outside of what would be considered typical, but not enough to clearly explain. There were observations, but no single conclusion to tie them together.

That has become a familiar pattern.

There is information. There are changes.
But there is not always clear meaning attached to them.

Connecting the dots between family history, symptoms, and caregiving

For me, this did not start with routine monitoring. It all started with something that did not feel right.

Numbness in my right foot, then my right hand, led to several trips to the ER and doctors’ offices, without clear answers.

Something in me told me to reach out to my father’s former amyloidosis team lead physician.

That conversation gave me context I didn’t have before. Based on their experience, they estimated that my father’s symptoms likely began around age 53. I was entering that same general range.

His recommendation.

Genetic testing and genetic counseling

That step didn’t bring immediate clarity, but it did set me on a path of learning, observation, and discovery.

Four years into annual evaluation, what stands out most is how much of this space is still evolving.

I have also come to understand, through both my personal experience and my work in this space, how fortunate I am to have access to consistent follow-up and specialized care. That is not the reality for everyone.

Navigating the clinical challenges of being an ATTR carrier

Some of the challenges that continue to stand out to me include:

• Variability in how and when carriers are evaluated
• Limited guidance on how to interpret early or subtle clinical findings
• Variability in how clinicians interpret carrier status, including perspectives on disease risk, if or when it may manifest, and how to observe and manage over time
• An undefined path between being a carrier and developing clinical disease
• Differences in access to specialized care and experienced providers

These are real challenges, but they also reflect a space that is still developing.

How I advocate for myself while living with uncertainty

Over time, this has influenced how I approach my own care.

For me, that has looked like:

• Staying engaged in conversations about my results, even when they are not definitive
• Paying attention to patterns without assuming every change has a clear meaning
• Bringing my own observations into the discussion as part of the overall picture
• Continuing to try to learn in a way that supports, rather than overwhelms, my day-to-day life

Not because I have it figured out, but because I have come to understand that I am part of the process.

Many carriers are navigating a similar experience; awareness without full definition, monitoring without a standardized path.

And so, for now, this is what it looks like.
Returning each year.
Building understanding over time. Learning what baseline means for me.
And allowing that to be enough for where I am right now.

And so, I completed my fourth evaluation.
Two days. And then… we wait.
For my clinical team to review the full picture, discuss my case, and determine what comes next.

Let’s continue the journey together.