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CeCe’s Story: Finding Answers




CeCe: My life before hATTR amyloidosis was really full. I was working as a nurse practitioner. I felt like I was really making a difference. My husband and my children were doing amazingly well. And I felt like I was becoming the person that I always wanted to be. My initial symptoms was severe carpal tunnel syndrome. I would wake up in the middle of the night with my hands and arms burning with extreme pain. When the initial symptoms hit, we were really afraid. I realized that my symptoms of hereditary amyloidosis had become too much to handle. I was experiencing severe shortness of breath, I couldn't walk half a block, my ankles were swelling.

I went to see my primary care doctor about the carpal tunnel syndrome I was experiencing. From there, I saw multiple specialists. Between 2005 and 2011 I saw a neurologist, a pulmonologist, a cardiologist, a gastroenterologist, and finally, a rheumatologist. I received multiple misdiagnoses. We immediately realized, my family and I, that having a diagnosis meant that we could develop a plan and work together as a team to help me get well. Medical knowledge as a nurse practitioner kept me going forward. When I was diagnosed, I left graduate school, I resigned from my job, and even though I had to give up things that I loved, I knew it was necessary in order for me to get well.

I'm doing well managing my amyloidosis and my daily activities. I had a heart transplant. I am in regular contact with professionals at the Amyloid Clinic, and there are providers there who are familiar with hATTR amyloidosis. I hope that others learn that there are lots of red flag symptoms with hereditary amyloidosis. It's easy to get a misdiagnosis. Make sure you tell your doctor about all of the symptoms that you're having. I also want you to be brave, be tenacious. And, by all means, never, never give up.