After Diagnosis, This Man Traced the Origins of His Family’s hATTR Amyloidosis

According to a story from Wapakoneta Daily News, Greg was devastated when he learned that his brother was diagnosed with hereditary transthyretin mediated (hATTR) amyloidosis. Ultimately, the disease would take the life of his older brother, and Greg, with help from his family, decided to learn as much as he could about the disease. The sense of urgency was ramped up further when he was diagnosed with the illness himself.

About Amyloidosis

Amyloidosis is a group of diseases which are characterized by the build up amyloid fibrils in body tissue. Amyloid fibrils are a type of abnormal protein. As there are several different types of amyloidosis, the cause can vary. Some forms are acquired while others, such as hATTR amyloidosis are linked to genetic factors. Symptoms of the disease include swelling, heart failure, irregular heartbeat, shortness of breath, fatigue, weight loss, easy bruising and bleeding, stroke, lung problems, enlarged liver, and changes in skin color. Treatment approaches for amyloidosis includes chemotherapy and stem cell transplant; a liver transplant can cure hATTR amyloidosis. Prognosis varies depending on the type; hATTR amyloidosis has a better prognosis than most other types, with some patients living for over ten years with the disease. To learn more about amyloidosis, click here.

Delving Into Family History

Since Greg knew that the disease was passed down genetically, he began to trace his family history. Greg is of Irish background, and soon came to learn that hATTR amyloidosis is more common in people of certain ethnicities, including people of Irish, West African, Portuguese, French, Japanese, and Swedish ancestry. Greg’s research stretched back centuries and he learned that it could have affected as many as 600 people in his extended family. He also learned that his grandmother had died from symptoms that sounded very similar to hATTR amyloidosis. 

Greg also is up to date on the latest treatments and research, and with treatment his disease has successfully stabilized.

My ancestors had no idea they were carriers of this gene, but I’m grateful that we know more about it today.”

It is important for rare disease patients to do their best to stay informed and understand their diagnosis as best as they can. Sometimes, the simple knowledge that you are doing everything you can to stay on top of your disease can make a big difference.

 


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