Living with hereditary ATTR-CM
Faye has been diagnosed with hereditary ATTR-CM, a type of cardiac amyloidosis, and is a 2021 World Heart Federation (WHF) “heart hero,” nominated by Pfizer, proud sponsor of WHF’s World Heart Day campaign. This story is based on our interview with Faye and her husband, Brad, who shared the ups and downs – and hope – of their journey.
Meet Faye, a 44-year-old “heart hero” living with an all too often under-recognised and under-diagnosed cause of heart failure. Transthyretin amyloid cardiomyopathy, or ATTR-CM, is a type of cardiac amyloidosis caused by unstable proteins that misfold and build up in the heart and other parts of the body. There are two types of ATTR-CM: wild-type ATTR-CM is associated with aging and hereditary ATTR-CM is inherited from a relative. Faye’s father died from cardiac amyloidosis in January 2010 at just 57 years of age, about a decade before her own diagnosis was confirmed. For Faye the diagnosis was not immediate as she had begun experiencing symptoms two years prior, including oedema – swelling in the legs, ankles and feet – and intense fatigue, perhaps her worst symptom, she said.
It is not uncommon for ATTR-CM symptoms to resemble those of more common causes of heart failure, making the search for answers that much more difficult and frustrating, especially when coupled with the lack of awareness among both patient and physician communities.
To reach a diagnosis, several tests were conducted by Faye’s cardiologist, including an electrocardiogram (ECG) and echocardiogram, followed by a pyrophosphate (PYP) scan, which confirmed her diagnosis of ATTR-CM. Since Faye experienced symptoms similar to her father’s condition, a genetic test was also conducted to confirm the type of ATTR-CM as the hereditary form. While she had seen multiple specialists leading up to diagnosis, it was Faye’s primary care doctor who broke the news during a virtual visit that she had hereditary ATTR-CM. Faye was devastated. “What made me so upset was all I could see was my dad. From the time my dad’s symptoms started, he passed away in three years. So, in my mind, I had three years,” said Faye. To make matters worse, Faye’s primary care doctor wasn’t familiar with the condition and couldn’t counsel Faye on the latest advances on caring for patients with ATTR-CM which weren’t available when her father was alive.
Faye can’t bear to see others go through the same distress she had while searching for a diagnosis and learning that she has ATTR-CM. Now Faye is focusing on how she can “Use Heart” to help others through awareness and education. “For me, talking and educating people on hereditary ATTR-CM is about leaving a legacy. It’s about making a difference. It’s about helping somebody else who’s in a dark pit and helping them get out. I would most definitely encourage people to get diagnosed and tested early,” said Faye. Faye’s determination has also influenced her primary care doctor, who has since educated herself about cardiac amyloidosis to ensure she’s equipped to care for Faye and any future patients.
When Faye’s husband Brad isn’t away at work, he is her main caregiver at home, spending as much time with her as possible. It was on a lunch break that he joined Faye for our interview. Their two adopted sons who are 10 and 11 years old are aware that Mom is sometimes uneasy on her feet and has a problem with balance. “They know that something is not quite right,” said Brad, “but we try to protect them and we’re a tightknit family.” He talked about the impacts on their lifestyle and the everyday activities that are now a struggle due to the draining fatigue, such as trips to the shopping mall or watching the boys at football practice.
A difficult diagnosis coming in a pandemic year has added to the burden. Month after month of virtual appointments have increased the sense of isolation. It is an experience repeated around the world where social distancing has hit many patients very hard.
World Heart Day this year emphasises the need for community support, encouraging others to share their stories and experiences. For those living with rare and under-diagnosed conditions like ATTR-CM, this message of “Use Heart to Connect” is even more important, especially during the ongoing COVID-19 pandemic when isolation can feel like a new norm.
Faye has been a step ahead, sharing her own struggles, hopes and inspiration for some time now: “When I write my blog, I feel freedom.” Faye is also active in a Facebook group that brings together more than 6,000 patients and caregivers. The group is a safe space for talking freely, sharing frustrations and learning about new tools. One such tool is the new app that Faye uses to have her words typed to screen through dictation, thus sparing hands that are numb, tired or painful. The Facebook group is also a hub for sharing positive experiences that may help the larger cardiac amyloidosis community. Faye shares her experience about genetic counselling, which was important for her as it helps patients, and their closest network of family and friends, grasp the social and psychological impacts of a rare disease.
Before Brad went back to work, he reiterated the challenge of the diagnosis and their wish for greater awareness and action. In taking care of Faye, he affectionately comments on her occasional “hard-headedness,” a trait which is perhaps also linked to her palpable courage and strength. While Faye has become an avid advocate for the cardiac amyloidosis community, alongside other Heart Heroes and advocacy organisations, we can heed the call for more education and awareness.
This year’s World Heart Day campaign encourages everyone to #UseHeart to shine a light on rare heart conditions like cardiac amyloidosis, and to support those like Faye who must cope with so many heart challenges on any given day. But our efforts don’t stop here. The World Heart Federation is proud to support the first World Amyloidosis Day on 26 October 2021. Similar to our message of “Use Heart to Connect,” the Amyloidosis Alliance who founded this new awareness day has designated “Be the Link” as their call to action, connecting (or linking) the amyloidosis community to the general public in an effort to support patients, including those with ATTR-CM, and their loved ones. We hope that others will join Faye, the Amyloidosis Alliance and our efforts to raise awareness of cardiac amyloidosis during these milestones and every day.