Amyloidosis is a disorder resulting in an abnormal protein, amyloid, depositing in different organs throughout the body. The defective protein may build up in these organs and cause them to function improperly. It can be localized to one organ, or present systemically, affecting multiple regions of the body. There are three known amyloid syndromes: arthritis, neuropathy, and headache.
The disease is classified into several types, but hereditary ATTR amyloidosis (hATTR amyloidosis), a rare subtype of the disease that results from inherited mutations in the transthyretin (TTR) gene. This gene is responsible for the formation of TTR, a protein formed in the liver that transports the hormones thyroxine and retinol (vitamin A) throughout the body. To date, there are more than 120 different known mutations in the TTR gene. Each mutation is inherited in an autosomal dominant pattern, that is, only one parent must possess the mutated gene for a child to be affected.
One way to change the course of hATTR is to truly get down to an accurate and timely diagnosis. This, of course, helps put the patient on a path to treatment, managing the disease and living a fuller life sooner. An open and honest conversation may play an important role in identifying symptoms sooner, reaching an earlier diagnosis, and allowing them and their loved ones to work with healthcare professionals to manage the condition. One such case is that of CeCe.
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. “…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, along with her healthcare team decided to dig a little deeper and ordered a heart biopsy, which detected amyloidosis.
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. But with the support of friends and family after a heart transplant, she was and is able to live a fuller life, managing the disease and loving her family.
“Today I am doing well,” says Cece. “I hope that others learn to be brave and to be tenacious, and by all means, never, ever give up.”