Genetic testing should be the 1st thing done after you're diagnosed. Most doctors have no idea how to diagnose cardiac amyloidosis, much less how to treat it. Doctors need to rule out AL cardiac amyloidosis before anything else is done. If you have that type, your treatment is completely different and much more aggressive. My advice would be to go to a cardiac amyloidosis clinic that knows all about this disease. Mayo Clinic in Rochester, Minnesota would definitely be my first choice. Look up Dr. Martha Grogan on the internet. She has multiple videos with lots of information on them about cardiac amyloidosis. She works at Mayo Clinic in Rochester. People come from all around the world to see her because she's the best, an expert on the subject. There are many cardiac amyloidosis doctors there that have trained with her and work with her. They are also experts in cardiac amyloidosis. A large facility like this will do all of the testing you need in a matter of days. When you go back home you will have all of the information you need to be treated correctly.

Time to focus on living

Absolutely! It's only one of many tests to determine what type of Amyloidosis. And these various types have very different treatment plans.

Great news about your children Olga, that's really worth a shout!!

In participating for the Amvuttra (Vutrisiran) clinical trial back in 2019, I underwent several neurological tests as well as genetic testing which showed I had hATTR, val30met. I’m in the Portuguese variation! My mom was Portuguese and had it from 1990-1998 when she died at 68… back then there were no treatments and only some pain management which didn’t help at all. She died of heart failure so she likely also had the cardiomyopathy variation. My twin brother also had it and passed away 2 years ago. He was one of the first to get into clinical trials but by the time he did he already had the disease so his body took a toll. He was fortunate to get on a treatment plan which gave him more years and some quality of life. He is the reason I finally got tested and entered the clinical trial for Amvuttra.

The best part? I have 4 adult children and ALL 4 got tested genetically and ALL came back negative for this disease! A true miracle and answer to my prayers!

Yes, the hATTR buck stops with me!