This is a picture of my dad, and it fills me with many emotions: sadness, grief, gladness and relief. This is the picture I used to share to the world on my own blog about transthyretin amyloid cardiomyopathy (ATTR-CM). It’s amazing how one photo can evoke such a wide range of feelings.
My dad passed away from hereditary ATTR-CM on Jan. 27, 2010. For three years, we watched him battle for a diagnosis that wouldn’t come.
What is ATTR-CM?
Transthyretin amyloidosis cardiomyopathy (ATTR-CM) is a rare progressive disease of the heart muscle that leads to congestive heart failure. It occurs when the transthyretin protein produced by the liver is unstable. Symptoms include fatigue; shortness of breath; irregular heart rate or palpitations; swelling of the legs, ankles and stomach; brain fog; wheezing; and dizziness. It often goes underdiagnosed because of a lack of awareness and knowledge of the disease. There is currently no cure for ATTR-CM.
His grandfather, uncle and cousin all passed away from ALS — or so they thought. My dad kept testing negative for ALS, but no one could explain why a healthy man was losing his legs, had shortness of breath, couldn’t use his hands and suffered from severe stomach issues. Finally, on biopsy No. 13, they found amyloid deposits.
Read more about ATTR-CM testing and diagnosis
At the time of his diagnosis, he was initially treated for AL amyloidosis and underwent three rounds of chemotherapy, which, unfortunately, only made him sicker. The treatment facility was about two hours away, and getting him in and out of the car became increasingly challenging.
Eventually, he received the correct diagnosis: hereditary ATTR-CM. Doctors reviewed his family history and discovered that his relatives who had passed away actually had hereditary ATTR-CM, not ALS. Upon learning his diagnosis, my dad immediately sought treatment, only to find out that no treatment existed to slow down the progression of the disease. He faced a grim reality: watching his functions slowly decline with no way to prevent it.
I remember a cardiologist coming into his hospital room and saying that my dad’s heart was too far gone for any effective intervention. I watched my dad crumble, and I felt utterly helpless.
I imagine some of my family members feel the same way today as they witness my own struggles, which drives me to want to protect them. I often suppress my pain, forcing my body to keep going when it wants to stop and pretending to cough instead of catching my breath after just a few steps. “Helpless” is a fitting word to describe that time with my dad.
Seeking a diagnosis
We all long for control, whether we admit it or not; true to my dad’s nature, he went into “control mode” regarding what he could manage. He immersed himself in research about the disease, contacted doctors across the country and meticulously tracked his symptoms. He did all of this for my sister and me so that we would be prepared should this disease affect us as well. My dad even advocated for us to get tested.
My sister, who has two children, chose to get tested to see if she could have passed the gene to them. At the time of my dad’s illness, I didn’t want to get tested since I had no children. Today, I am grateful that our two children are adopted and won’t inherit any genetic concerns.
My sister carries the gene but is relieved that it is currently dormant. I often feel inadequate and disconnected from the community because I hear stories of others searching for years for a diagnosis and the struggles they face, and I reflect on my own two-year journey and wonder why ATTR-CM never came up.
I never mentioned it because I was cautioned against doing so, fearing it would lead to a death sentence. Because I kept quiet, none of the doctors I consulted ever considered it valid, even with the tests I underwent. They didn’t look into it because I didn’t fit the expected profile. I’ve often stated, and it has become my slogan, that ATTR-CM does not follow a set pattern: Gene mutations don’t adhere to the rules, and ATTR-CM should be among the considerations. It’s easy to rule out, but it must also be ruled in as a possibility.
Finding beauty
Once diagnosed with ATTR-CM, I felt I would face a fate similar to my dad’s, thinking I would be bedridden and incapable of functioning within three years. I envisioned my family becoming caregivers and my children losing their childhoods because their mother was sick. I felt anger toward God for allowing this to happen. Some people are shocked when I express this anger, but God knows how I felt, even if I didn’t openly acknowledge it.
I no longer harbor that anger. Instead, I see the beauty that has emerged from this disease. I now have the opportunity to educate others about it, to put a face to this illness, to share experiences and to let others know they are not alone. I continue to fight, create memories and live fully. Since sixth grade, I’ve aspired to be a writer, but it never materialized — until I was diagnosed with ATTR-CM, which opened doors for me, allowing me to share my story.
My dad paved the way for me, making it easier for me to navigate life after my diagnosis. Some challenges remain because the disease is still so poorly understood. When I mention it to others, they often have no idea what I’m talking about, which is understandable.
But when I talk to doctors, and they aren’t aware of it, it complicates matters — yet it also serves as a chance to educate and discuss the condition. My family doctor now actively looks for symptoms of ATTR-CM. She brings it up when relevant and makes referrals when necessary, whereas in 2020, she had never heard of the disease. We must continue to make strides forward, and I pray that we will.
