The long journey to an amyloidosis diagnosis can be full of setbacks
It really makes a difference when you know what you are fighting against
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On Mother’s Day last year, by chance or instinct, I was awake past midnight when I received the message that my mom, Feng-Ying Wu, had been rushed to the emergency room in Taiwan. She had fainted in the house, collapsing on the way to the living room.
My dad happened to be right beside her and hurried to get between her body and the floor. She was unconscious, and her bowels released. I can only imagine the shock Dad must have felt in that moment. She regained consciousness within a minute, but her heart rate had dropped dangerously low. The ambulance rushed her to the nearest hospital.
I was 16 hours away by air, in New York. Adrenaline took over as I booked the next direct flight home, arranged care for my cat, and packed essentials. When dawn slipped through the blinds, I finally allowed myself to close my eyes and felt the weakness in my exhausted body. That was the toughest Mother’s Day of my life.
Ignorance and fear before diagnosis
The following three weeks in Taiwan became a critical time that finally led to Mom’s diagnosis of cardiac amyloidosis — specifically, hereditary transthyretin amyloid cardiomyopathy, or hATTR-CM — after three years of living with heart failure. As I look back on the journey, I wish our family had offered the kind of support she needed when she was scared, lost, and vulnerable.
Mom saw doctor after doctor and went through numerous medical tests to explain her weight loss, and when nothing came back clearly abnormal, we turned our attention to her mental state after her forced retirement. I remember talking with Dad about how, years after retirement, she still seemed unhappy. We discussed the toll we suspected it had taken on her physical health. Yet, even though these thoughts came from a place of love, they now sound cold and dismissive.
At some point in 2021, Mom was finally referred to a cardiologist to look more closely at her heart. I learned about it after she messaged me one day in an unusually serious tone. The cardiologist wanted to send her blood sample to the United States for genetic testing and recommended a cardiac catheterization to collect heart tissue. What obviously frightened her was the doctor’s warning: There was no medication to treat it if the suspected condition was confirmed.
I asked her what the condition was, but she couldn’t give me a name. Later, the genetic test results came back negative, and Mom declined the catheterization. She started her standard heart failure treatments, and I never got more information about the suspected condition.
To this day, I still wonder if what the doctor suspected was hATTR-CM and whether the genetic test was the same test she took in 2025 that turned out to be positive. If yes, that was one missed opportunity to get a much earlier diagnosis, even if the medication wasn’t approved yet in Taiwan.
Knowledge brings power
My knowledge of ATTR-CM grew during those three weeks in May 2025. There was a quiet fear in learning more about the condition, as each new detail felt like a new piece of bad news. Later that year, I initiated discussions with doctors about clinical trials and new medication development. While an ATTR-CM diagnosis is never a fortunate one, the true misfortune is the long journey leading to it.
Mom is still among the lucky ones. Her condition didn’t start developing until after the first medication was successfully developed and approved in the U.S., and although she could have started the right medication sooner, she is fortunate to live in a country with public healthcare that pays for it.
Our family is on this journey together now, one step at a time. What has really made a difference is knowing what we are fighting against. While it doesn’t eliminate fear, it does give us strength to plan how we will continue moving forward.
Note: Amyloidosis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Amyloidosis News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to familial amyloid polyneuropathy.
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