Patient Experience

Videos: Patient Experience

Chip and John [1]

Hear how John was misdiagnosed over ~18 years, including multiple HCPs visits and one cardiologist in Japan, until scintigraphy and echocardiogram finally reveal amyloidosis

Dempsey

Dempsey was fortunate to have an early diagnosis with several HCPs visits

New Zealand Amyloidosis Patients Association NZAPA. https://www.youtube.com/watch?v=UMIxcaamdg4
Your heart's message. https://www.yourheartsmessage.com/attr-cm-diagnosis.

Patient Physical Experience

The diagnostic process for ATTRwt-CM may be long and difficult, with some patients reporting a diagnostic journey of 10(+) years

From months to years, the time to diagnosis is highly variable

“It took them [the doctors] eight months before they came up with something out of left field. They’re still off. [I kept] going to my GP and it was ‘we’ll, give you a shot of testosterone.’ It’s kind of like there’s no answer. They keep trying to find out what is wrong with you. You’re constantly trying to find what’s wrong with you.” [2]

“Over a period of nearly five years, starting when his primary care doctor heard something ‘not quite right,’ Supnick underwent more tests than he can recall only to be told that the cause of his enlarged left ventricle was idiopathic. Then came cardiologist Dr. Harrison who saw something on Supnick’s MRI and had a EUREKA MOMENT. ‘Dr. Harrison [said] we need to check you for amyloidosis.’” [4]

An annual checkup could also be the start of the journey where patients are otherwise asymptomatic

“As a part of my annual wellness checkup, my nurse practitioner asked me if I had any other things that I might report on. And I said, ‘Well, I'd noticed a little shortness of breath.’ … They ran a series of tests in the diagnosis. The feedback from that was, the doctor said, ‘Well, yes, you have A-fib, but that's not your problem.’ I said, ‘Excuse me, what is my problem?’ He said, ‘Well, my presumptive diagnosis is that you have protein deposit in your heart.’” [6]

“An echocardiogram suggested amyloid deposits in my heart. Genetic testing indicated that I have wild type ATTR-CM, which I learned is a rare heart condition. I spent nearly 11 years trying to get the proper diagnosis.” [1]

From months to years, THE TIME TO DIAGNOSIS IS HIGHLY VARIABLE

“He (HCP) sent me off for scintigraphy at the hospital and it came back, there was a massive accumulation of tracer in my heart, probably more in my heart than in my bones. So I was sort of stage two by that time. Anyway, that was a year and a half ago. I got a positive diagnosis, and after 18 years, 17, 18 years of not knowing why I was getting increasingly breathless.” [1]

“I did have bilateral carpal tunnel surgery about 20 years ago. I think about if this disease could have been starting way back then.” [5]

https://www.youtube.com/watch?v=UMIxcaamdg4
Rintell, D., Heath, D., Braga Mendendez, F. et al. Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups. Orphanet J Rare Dis 16, 70 (2021). https://doi.org/10.1186/s13023-021-01706-7.
https://www.youtube.com/watch?v=QLOyVUazvLU
https://amyloidosis.org/cardiac-amyloidosis-needs-to-be-on-the-decision-tree/
https://amyloidosis.org/where-will-this-attrwt-amyloidosis-journey-take-me
https://www.yourheartsmessage.com/attr-cm-diagnosis

Patients are often misdiagnosed and may even be given inappropriate treatments—sometimes multiple times

Misdiagnosis / incomplete diagnosis is common...

“There were indications in the tests that were done at the time, but the subtle signs were all missed–even though many tests were done at a first-tier teaching hospital. Carpal tunnel, biceps rupture, lumbar stenosis (and currently being studied–trigger fingers) are very common for amyloidosis sufferers but not many people make the link.” [1]

“Five years after the initial presentation of his symptoms, Ivan’s cardiologist diagnosed him with a more serious heart condition, ATRIAL FIBRILLATION, which can lead to increased risk of stroke, heart failure, and other complications. The possibility of having ATTR still wasn’t on Ivan’s radar.” [3]

. . . and patients report a lack of ATTR awareness among HCPs

“What my doctors didn’t realize is that carpal tunnel syndrome can be a symptom of ATTR-CM. Two years later, I was diagnosed with congestive heart failure, but the doctors were not sure what caused it.” [2]

. . . and with different manifestations, patients may jump around between HCPs and receive various treatments before ATTR is confirmed

“[The patient] made an appointment with his family doctor, where an irregular heartbeat prompted an urgent visit with a cardiologist. There, the evidence of ATTR became more apparent. ‘I had an enlarged heart and thickened walls, so I was referred to a hematologist at Mayo Clinic.’” [5]

"I had my first carpal tunnel surgery and had begun to have problems walking. I had my first hip replacement that same year, followed by another in 2013. In 2010, I ruptured my biceps tendon while stretching with a resistance band. Right about that time, I also started having shortness of breath. I felt very tired, and my mornings were difficult.”[6]

"Visits to the cardiologist revealed atrial fibrillation, an irregular heartbeat that can be caused by ATTR. Doctors also drained excess fluid from his body, relieving uncomfortable pressure.”[4]

Patient Emotional Experience

As symptoms progress without a diagnosis, initial denial, discounting, or even obliviousness can turn into concern and frustration

Denial

“Nobody knew why I had CHF–there is no history of it in my family as far as I know. So, of course, I went into INSTANT DENIAL, because I still felt young enough to be “invincible.” [1]

“As his energy levels declined, and then after experiencing heart palpitations, he visited his doctor. A cardiogram test revealed a form of heart arrhythmia known as apical premature contractions, which is common in older patients: it means you get an extra beat now and then. HE DIDN’T THINK MUCH OF IT. However, over time, his arrhythmia became more frequent and his blood pressure gradually increased.” [2]

Concern

“He wasn’t sure exactly what the problem was but having spent much of his life pushing his body to its physical limits, He Knew Something Was Off. He went to a doctor for some tests, but they couldn’t find anything.” [3]

Frustration

“I started getting premature ventricular contractions (PVCs). They went from annoying to debilitating in about a year, at which point my cardiologist recommended a cardiac ablation to correct my heart’s rhythm. This was a missed opportunity to detect ATTR-CM, which can cause the heart signaling problems I had. My first ablation failed, but the second was a major success! My PVCs disappeared, and for a while, I felt better. My heart was pumping better, and I THOUGHT I WAS OUT OF THE WOODS. BUT THAT WAS WISHFUL THINKING.” [1]

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