Black Health Matters and Alnylam Pharmaceuticals: Understanding hATTR Amyloidosis Series
Living With hATTR Amyloidosis: CeCe’s Story
For several years, CeCe was living with mysterious health challenges. After seeing numerous specialists and being misdiagnosed multiple times, CeCe finally found out she had hereditary ATTR (hATTR) amyloidosis, a rare, genetic disorder caused by the buildup of an abnormal protein that often affects the heart, nerves, and GI systems. This journey started many years ago, when CeCe was 55.
“I started having carpal tunnel syndrome in both hands,” she says. “I would wake up in the middle of the night with extreme pain. The muscles and nerves in my hands and wrists would suddenly start burning and stinging with hot, cutting pain radiating up both arms. The pain was horrible, and I cried many nights.”
The pain made it difficult for her to write chart notes, an integral part of her job as a nurse practitioner at a public health clinic.
That Thanksgiving, while visiting friends, CeCe began having shortness of breath. It got so bad she had to cut short her visit and fly home to see her doctor, who told her she had pneumonia and gave her medication.
When she didn’t get better, she saw a pulmonologist, who diagnosed asthma.
“I had asthma as a child and this made some sense to me,” she says. “He suggested I get more exercise, which I did, and he provided an inhaler. I was doing OK and able to manage most activities.”
That was until 2008, when things took a sharp turn for the worse. CeCe started having symptoms of peripheral neuropathy, including burning pain and tingling in her toes, especially at night. Her doctor thought she might have gout, but she didn’t have physical symptoms consistent with gout and her blood tests all came back normal.
“That left me feeling frustrated and frightened,” she says. “I knew we were missing something. The shortness of breath, carpal tunnel, and peripheral neuropathy didn’t go away.”
When CeCe’s ankles and calves started swelling a year later, her medical team checked her ejection fraction—a measure of how well the heart is pumping blood.
In 2010, a cardiologist diagnosed CeCe with heart failure. He prescribed traditional heart failure medications, told her to go home and come back and in three months.
“I was in a state of shock,” she says. “But in a few days, my nurse practitioner brain revved up into full gear. Why was I in heart failure? Something didn’t seem right. Maybe it was from the stress of graduate school, parenting teenagers, or spending all of 2009 caring for my best friend before she died of breast cancer.”
CeCe and her healthcare team decided the next step was a heart biopsy, which detected amyloidosis.
“At that time, it was rare to find a provider with enough knowledge about hATTR amyloidosis to provide a diagnosis, and we could not identify anyone in my area,” she says. Her Seattle-based medical team recommended an East Coast clinic with amyloidosis experts who did additional testing and confirmed her diagnosis of hATTR amyloidosis.
With diagnosis in hand CeCe knew she could no longer live on her own, which forced her to make the decision to relocate to another city, where her husband was working. That meant uprooting the comfortable life she had and finding another healthcare team, something she didn’t want to do. But she displayed the resiliency that has been a hallmark of her personality and made the move.
Though her new doctor was positive, learning about her disease set off an emotional time bomb. “I can remember him saying very clearly to me, ‘It is not my plan to watch you die; it is my plan to get you the care you need,’” she says.
The more CeCe learned about the disease, she realized it would not only impact her, but also possibly her two children as it is a hereditary disease. I was flooded by emotions like never before. Guilt: Were my babies going to die? Anger: Why the hell was this happening?,” she explains. “Fear: What was I going to do? How was I going to manage this? My daughter was so angry she could barely stand to be in the same room with me. We were both upset and afraid of how the disease might affect her life. Finding out about the disease was extremely shocking for my son as well. He was away at school, and it was difficult for us to tell him everything that was happening until the summer, when he found out how sick I really was.”
After two days of testing at an amyloidosis center in her new city, CeCe experienced another blow: It was recommended she receive a heart transplant. Worse: It was two to three weeks before they could determine if she was a good candidate for the transplant registry.
“I returned home and waited. As the days passed, it felt as though I was floating outside my body, looking down at a lifeless shell of myself. I couldn’t stop crying and rocking back and forth.”
Her family and friends helped her regroup, and she received her new heart in 2012. CeCe describes her life post-transplant as “a whole new story.” She still has challenges. She and her medical team have to constantly stay on top of the effects of the heart transplant including anti-rejection medications, as well as the symptoms of hATTR amyloidosis including peripheral neuropathy that she still experiences.
And she’s still triggered by how long it took to find out what was wrong with her. “As I reflect on my struggle to achieve an accurate diagnosis and find a treatment center, my medical knowledge and connections were key to saving my life,” she says. “No one should have to work as hard as I did to find healthcare professionals familiar with this disease.”
But she remembers to take notice of the little things. “Without family, friends, and community, none of this would have been possible,” CeCe says. “Resiliency, compassion, creativity, and tenacity are all part of the equation for guiding my navigation of hATTR amyloidosis.”
If you or a family member have experienced similar symptoms to CeCe, talk to your healthcare professional and visit Alnylam’s https://hattrbridge.com