A Shared Journey: How Her Dad’s Diagnosis Led to Her Own Discovery

By Jasmine Smith
From – https://blackdoctor.org/
Reprinted – by Texas Metro News

Imagine a family gathering, where laughter and stories intertwine with shared meals and cherished traditions. Amidst the joyous chatter, there’s a unique opportunity, one often overlooked yet profoundly impactful – the chance to delve into your family’s health history. This is the essence of the “Family Health History Road Trip”, a journey of discovery and advocacy launched by Alnylam Pharmaceuticals, Inc. that aims to change lives by facilitating conversations about hereditary ATTR (hATTR) amyloidosis within families.

“It’s designed to raise awareness of the hereditary nature of this disease something that people don’t normally talk about,” Bernice Bennett says of the program. “The goal is to drive family health history conversations in any way possible to get families to start talking. This is an inherited disease – this is something that folks need to understand for early diagnosis because this is a very progressive [disease].  It moves very quickly so if you can get an early diagnosis, you can get early treatment. We are hoping that this conversation will stimulate individuals to take action much quicker.”

BlackDoctor.org interviewed Bernice Bennett, the genealogist and health educator guiding the program, and Giselle, a participant living with hATTR amyloidosis to learn more about the inspiration behind this transformative program and the importance of knowing your family’s health history and advocating for early detection and treatment.

What is hATTR amyloidosis?

hATTR amyloidosis is a progressive disease caused by an inherited variant that affects the TTR gene, leading to the abnormal folding of the TTR protein and the buildup of amyloid deposits in nerves, the heart, and the digestive system. This buildup can result in a range of symptoms, including edema, carpal tunnel syndrome, dizziness, and more. Early diagnosis is crucial for effective treatment, as the disease progresses rapidly.

A personal connection to the impact of hATTR amyloidosis is often the catalyst for learning about the disease. This was the case for Giselle, whose journey with amyloidosis began with her father’s diagnosis.

“One day, I went to his house, and he told me his feet were swollen. They were so swollen it looked like he was standing on tree trunks. I immediately took him to the doctor to find out what was going on, and they discovered something was affecting his heart,” Giselle shares.

After a series of tests, Giselle’s father was diagnosed with hATTR amyloidosis, a hereditary condition, which prompted her to look into her own medical history. 

“Looking back through my medical history, I had been experiencing symptoms of the condition for probably 10 years prior to his diagnosis,” Giselle says. “Reflecting on both our symptoms, we both experienced edema. He had diarrhea, while I had constipation. We both had bilateral carpal tunnel, dizziness, and bruises on our eyes. We also experienced shortness of breath. I tore both of my bicep tendons and frequently developed strange bruises on my thighs. We both dealt with dizziness and a little nausea at the time. These were some of the symptoms we faced, but there’s a whole list of symptoms attributed to this condition.”

Although Giselle and her father had many symptoms in common, each person experiencing symptoms of amyloidosis may have a different set of symptoms, which she says makes it challenging to diagnose. “It’s important to pay attention to your

body, notice the symptoms, and talk to your medical providers to get tested as soon as possible,” she adds.

Giselle also stresses the significance of understanding your family’s medical history and genetic testing, particularly within the Black community, which has a one in 25 chance of carrying the genetic variant for the disease.

“It can be difficult at times,” Giselle says of discussing family history. “When I received my diagnosis, I sent emails, text messages, and literature to my family members on my dad’s side so they would be informed about the condition and talk to their providers about getting tested. Some family members may be in denial and not ready to hear that they may have inherited something.”

Despite the challenges you may encounter with family members, Giselle says It’s important to share information in a way that shows you care about their health and well-being. 

“Some may delay seeking medical advice or diagnosis out of fear. It’s crucial to take time and communicate the seriousness of the issue so they can understand the need for action,” she notes.

By participating in the “Family Health History Road Trip”, Giselle hopes people will not only realize the importance of knowing your family history, but also that they have resources to help them along their journey.

“One of the key factors in understanding the condition is knowledge. A significant indicator of hATTR amyloidosis is a family history of the condition, as it is hereditary. Bilateral carpal tunnel is another key indicator. Accessing websites like hattrbridge.com/roadtrip can provide a wealth of information about the condition, including symptoms to look out for.” she says.

Advice from Giselle and Bernice on Navigating Family History & hATTR Amyloidosis

Create a checklist.

 “Creating a checklist of symptoms and sharing it with your healthcare providers can help them make an educated determination about whether you may have the condition,” Giselle says.

“Having a checklist to share with your provider, indicating that you have a family member with this condition, is a significant step. Your physician may then suggest genetic testing, which is where knowledge becomes power, empowering individuals to take action,” Bennett adds.

Advocation is key.

“Once informed about hATTR amyloidosis, individuals can advocate for themselves and their family members. This resource can be invaluable for learning more about the condition and advocating for oneself,” Bennett says.

Think about the future generations.

“Family history is considered one of the most important risk factors for health problems. You need to know your family health history. It will help your family – it will help further generations,” Bennett notes.

Giselle, who can relate to the importance of family history, agrees.

“I truly believe this because my dad’s diagnosis prompted me to get tested. Even in his passing, he is still saving my life because I was diagnosed early enough to receive treatment before it became critical,” Giselle concludes.

To learn more about hATTR amyloidosis and the impact of family health history, click here.