Angel loved growing up in a big, close-knit family, surrounded by cousins, aunts and uncles who got together as often as they could. To her, family meant sharing everything — good times and bad, past and present. But just like the genes for straight hair and blue eyes, Angel learned that her family also shared the gene for hereditary ATTR amyloidosis (hATTR) with polyneuropathy, also known as familial amyloid polyneuropathy (FAP). That’s why Angel arranged for dozens of her family members to receive genetic testing for hATTR amyloidosis. All in a single day.
First, she lost her grandfather to the disease. Then, while she was raising her own children, her mother was diagnosed with the disease. So when she learned that there was a treatment available for the first time, she decided it was time to get the genetic test to find out if she carried a gene mutation responsible for the disease.
“Throughout my whole life, hATTR amyloidosis has been like a dark cloud that was never far away,” Angel said. “It’s affected my grandfather, mother, great uncles and my uncles and aunts, and as I looked at my children, I worried about their futures, too.”
Initially, Angel found it challenging to find and get the genetic test, so she reached out to hATTR amyloidosis expert Dr. Sami Khella, chief of the Department of Neurology at Penn Presbyterian Medical Center at the University of Pennsylvania, in Philadelphia, to help her through the genetic testing process.
“Genetic testing for hATTR amyloidosis is important because it is the only way to confirm a diagnosis – even if there is a family history – and differentiate between the hereditary form of the disease and the more common, wild-type,” said Khella. “Testing is also important because now, for the first time, there are treatments designed to stop the disease from getting worse and an early diagnosis can lead to earlier, more effective treatment.”
The wait for her results felt like an eternity. It was a huge relief when she found out that she was not a carrier of the gene. “I was so happy, not for myself but for my children. But my immediate next thought was about my siblings and my cousins and all their kids,” said Angel. “I knew we all needed to find out more.”
Once again she turned to Dr. Sami Khella to help get her large family tested. Together, they arranged for 27 members of the family to be tested in one day through the hATTR Compass Genetic Testing Program. hATTR Compass offers no-cost, confidential genetic testing and genetic counseling for patients clinically suspected of having hATTR amyloidosis with polyneuropathy as well as family members of those with hATTR amyloidosis. In total, about 75 family members have been tested with around 25 of those testing positive.
“Genetic testing can help those find out if they have the gene — like several members of Angel’s family — and be aware of symptoms to look out for, talk with their physician and seek treatment as soon as symptoms arise, before the disease gets worse,” said Khella.”
Angel is passionate about raising awareness of hATTR amyloidosis within her own family and among other large families like her own because she doesn’t want others to have to witness their beloved grandparents and parents become weak and struggle with multiple symptoms that prevent them from being able to live the lives they worked so hard to build.
Known as the family expert, Angel is often the first person her relatives ask about genetic testing, symptoms, doctors or treatments. She also shares her story through the hATTR Change the Course Program, in the hopes of empowering other families to learn all they can about the disease, like she did, so that they can take action.
Angel’s grandfather wasn’t able to play with his grandchildren because of hATTR amyloidosis, and her mother was robbed of the chance to cheer on the grandkids at hockey games. But now, where the dark cloud used to be, there’s hope.
“Family is the most important thing to me, and I’m glad to be fighting for them,” she said. “I couldn’t help my grandpa, or my mom, but I know they’d be glad to see that the future looks brighter for the next generation.”
© 2019. Akcea Therapeutics, Inc. All rights reserved. US-TTR-1900290. 7/19
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