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A NOTE ON THIS STORY
This is a real account from a woman living with hereditary ATTR-CM, shared publicly to raise awareness and help other families recognize the signs sooner. We have changed her name to Renee and adjusted a few identifying details about her family to protect their privacy. Her health history, timeline and words are retold faithfully from her own published story, which is cited in our sources below.
Renee’s father died from amyloidosis in 2010, after years of tests and biopsies that could not explain why his body was failing him. He had swelling, shortness of breath and legs that seemed to give out overnight. When his thirteenth biopsy finally found amyloid deposits, the family thought they finally had an answer, but even that answer was initially wrong. Doctors first mistook it for a different, non-hereditary form of amyloidosis. By the time the correct diagnosis, a hereditary form affecting the heart, was confirmed, his heart was already failing.
Before he passed away, Renee’s father asked his two daughters to do one thing: get tested for the gene mutation that had just taken his life.
One sister tested. One did not.
Renee’s sister did the test. Renee did not. “Fear convinced me that ignorance was safer than the truth,” she says now. When her sister’s result came back positive, Renee told herself a kind of comforting half-truth: it is a fifty-fifty chance, so maybe I am the one who is safe. Looking back, she recognizes exactly what that thinking cost her. “I misunderstood both the odds and the cost of waiting,” she says.
For years, that was where things stayed. A family history everyone knew about. A test Renee had not taken. A quiet decision to not think about it too hard.
When her own body started asking the same questions
In 2018, Renee began retaining fluid for no clear reason. She gained nearly 25 pounds in a single month, and her stomach became noticeably hard. Her doctor sent her to a specialist in fluid and lymph issues, but the real picture kept getting worse: shortness of breath, deep exhaustion, and swelling that simply would not go down.
An echocardiogram found thickening in the lower left chamber of her heart. At that point, nobody connected it to the disease that had taken her father’s life. It was Renee’s sister, the one who had already tested positive years earlier, who finally said the thing nobody wanted to say out loud: “Renee, this sounds just like Dad.”
A test that sat on the kitchen table for two weeks
Even hearing that, fear had not let go of Renee. She worried a positive result could complicate her insurance or her care in ways she could not predict. But with her sister’s encouragement, she finally ordered the genetic test. It sat unopened on her kitchen table for two weeks before she could bring herself to mail it. “I cried the whole way to the mailbox,” she says.
The call came back positive in March 2020, right as COVID-19 shutdowns were beginning. Renee was home alone when her doctor delivered the news, staring at a screen and trying to absorb words that changed everything at once. “I thought I was going to die,” she says of that moment.
Building a path forward, together
At the time, even Renee’s own doctor did not know much about ATTR-CM. To her credit, she dove into learning everything she could, and today her knowledge of the disease rivals many specialists. Together, doctor and patient built a plan.
Renee is honest about what the lost time cost her. She went from doctor to doctor for roughly two years before her diagnosis, without answers, while the disease continued quietly progressing. That weighs on her, and it also fuels her. Catching this disease earlier changes what treatment can do, and that is why she now speaks openly about her experience: to help other families recognize the signs sooner than she did.
Renee describes learning to embrace the life she actually has, rather than the one she once expected. Her husband has stayed steady beside her through it, her teenage sons remind her daily why she keeps going, and even the family dog, curled up at her feet during hard nights, has become part of how she copes. “I don’t have control over what this disease brings,” she says, “but I do have control over how I live through it.”
Key takeaways
— A parent’s amyloidosis diagnosis, even one that took years and multiple biopsies to confirm, is a reason for adult children to consider genetic testing, not a reason to avoid it.
— A fifty-fifty inheritance chance means exactly that for each person individually. One sibling testing positive does not tell you anything about your own result.
— Sudden fluid retention, rapid weight gain, stomach hardening and unexplained swelling deserve to be connected to family heart history, not treated as isolated problems.
— Fear of a positive result is common and understandable. So is the cost of waiting, which for Renee was roughly two years of undiagnosed disease progression.
— A doctor who does not yet know much about ATTR-CM can still become a strong partner in your care if they are willing to learn alongside you.
Renee’s story is, in her own words, proof that even in the face of fear, there is still life and hope beyond the diagnosis. If a parent, sibling or grandparent has been diagnosed with any form of amyloidosis, her story is a gentle nudge: the test that feels frightening to take is usually far less costly than the years spent avoiding it.
SOURCES
1. Amyloidosis Foundation. (n.d.). My Journey with Amyloidosis: Turning Fear into Purpose. Amyloidosis Foundation patient stories https://amyloidosis.org/patient-story/my-journey-with-amyloidosis-turning-fear-into-purpose/