A non-exhaustive list of supplies needed for a successful family road trip: a full tank of gas, plenty of snacks, a meticulously curated playlist and, according to Alnylam Pharmaceuticals, a thorough conversation about your family’s health history.
The pharma has launched a new campaign, “Family Health History Road Trip,” to encourage people to have those conversations with their relatives, in hopes of identifying hereditary diseases they might be carrying as early as possible. The campaign is focused specifically on hereditary ATTR (hATTR) amyloidosis, a rare inherited condition in which a genetic variant leads to misfolded TTR proteins, which can then build up in the heart and other organs and tissues.
Diagnosis of the rapidly progressing disease can take several years after symptoms begin, since those symptoms—which include a range of reactions from carpal tunnel syndrome to dizziness and shortness of breath to unintentional weight loss—overlap with those of many other, less-rare conditions. Currently, according to the American Heart Association, people with hATTR amyloidosis typically have a life expectancy of between 2.5 and 5 years after they’re diagnosed.
One participant in Alnylam’s campaign said in a company release Wednesday that it took appointments with nine doctors over the course of seven years for her to finally receive a definitive diagnosis.
“Once I mentioned my uncle’s history of amyloid neuropathy to my doctor, I was immediately offered a genetic test and finally received a diagnosis,” she said. “My symptoms were so different from my uncle’s that I never thought to discuss his health history with my doctor when I started my search for answers. If I had, I could have potentially been diagnosed and started on a disease management plan much earlier.”
In the driver’s seat on Alnylam’s cross-country road trip is Bernice Bennett, an author and genealogist. Mapped out along her route are stops to talk with a doctor who’s an expert on hATTR amyloidosis, as well as families that have been affected by the disease.
A highlight video from the trip shows Bennett going through family photo albums and chatting with patients’ family members about the process of uncovering the diagnosis behind what seemed like “a mystery illness.” She also meets with a doctor, who notes that “delay in diagnosis in a person is not only resulting in delay in diagnosis in them but also delay in diagnosis in the subsequent generations of their families.”
“When we speak about family history, we often focus on the stories about what country we came from, where family immigrated to, or what types of jobs or professions they held; what we don’t often focus on is the health history of those who have walked before us,” Bennett says in the video.
The highlight reel also gives a preview of Bennett’s route, starting in Chicago and winding through the Midwest before heading east for Massachusetts.
And while the Family Health History Road Trip doesn’t overtly tout any branded treatments for the disease, the “treatment options” tab on the campaign’s accompanying website does redirect visitors to the site for Amvuttra, an RNAi drug from Alnylam that’s indicated to treat nerve damage in hATTR amyloidosis patients.
The road trip-themed campaign is the latest in a string of hATTR amyloidosis programs that Alnylam has launched in recent years. Back in 2018, its “Bridge the Gap” campaign spotlighted a single extended family with cases of the disease spanning multiple generations, while another effort that launched last year focused on raising awareness of the rare disease in Europe via animated patient testimonial videos after Amvuttra was cleared on the continent.
“Alnylam has been learning from the hATTR amyloidosis community for nearly two decades, and during that time, I’ve witnessed firsthand the devastating impact a delayed diagnosis can have on an individual’s quality of life and on their entire family,” Tiffany Patrick, VP of patient advocacy and engagement at Alnylam, said in this week’s announcement. “The Family Health History Road Trip program underscores Alnylam’s commitment to supporting improved health outcomes for the hATTR amyloidosis community.”