CAMBRIDGE, Mass.– Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, today announced the launch of the Family Health History Road Trip, its program designed to encourage conversations between family members about their health history so they can discuss with their doctor to better understand their risk for developing an inherited disease like hereditary ATTR (hATTR) amyloidosis. Inspired by the traditional family road trip, the program follows genealogist and health educator Bernice Bennett as she embarks on a cross-country road trip to meet with a physician expert in hATTR amyloidosis and affected families to learn more about the disease, hear patients’ journeys to diagnosis and explore how knowledge of family health history can drive an earlier diagnosis.
“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 tend to focus on is the health history of those who have walked before us,” said Bennett. “Family history is considered one of the most important risk factors for health problems. Knowing your family’s health history empowers you with important information to share with your doctor when seeking a diagnosis or determining your risk for developing an inherited disease like hATTR amyloidosis.”
hATTR amyloidosis is a rapidly progressive disease caused by an inherited variant, or change, in the transthyretin (TTR) gene, which causes the TTR protein to take on an abnormal shape, misfold and collect as amyloid deposits throughout the body, including the nerves, heart and digestive system, resulting in symptoms of the disease. Common symptoms may include carpal tunnel syndrome, tingling/numbness in the hands or feet, weakness, shortness of breath, diarrhea, constipation, dizziness and unintentional weight loss. These symptoms are similar to those of more common conditions and can vary widely among people with the condition, even within families, which may lead to misdiagnoses or delays in receiving an accurate diagnosis. In fact, patients may not receive a correct diagnosis until 3 to 6 years after symptom onset, resulting in significant disease progression and impacting entire families who remain unaware that there is an inherited disease in the family.
“It took seeing nine doctors over seven years for me to finally receive a diagnosis of hATTR amyloidosis,” said Christine, a Family Health History Road Trip participant who is living with hATTR amyloidosis. “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. 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.”
With an inherited disease like hATTR amyloidosis that progresses rapidly, early diagnosis is crucial. When a diagnosis is delayed, appropriate management of the disease is also delayed, which is especially problematic as symptoms of hATTR amyloidosis can worsen over time and cause irreversible damage. That is why having health history conversations within families is so important – it equips current and future generations with important health information to share with their doctor and take action. A genetic test can determine whether a person carries one of the more than 120 variants in the TTR gene associated with hATTR amyloidosis. Once a gene variant is identified, family members of an affected individual can share this information with their doctor to help determine their own risk for the disease.
“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,” said Tiffany Patrick, MPH, MBA, Vice President, Patient Advocacy and Engagement at Alnylam Pharmaceuticals. “The Family Health History Road Trip program underscores Alnylam’s commitment to supporting improved health outcomes for the hATTR amyloidosis community.”
hATTR amyloidosis is an autosomal dominant condition – meaning each child of one parent with hATTR amyloidosis has a 50 percent chance of inheriting the genetic variant that causes the condition. While a family member may inherit the TTR gene variant, having the variant does not necessarily mean that they will develop the disease. Although anyone can be at risk for developing hATTR amyloidosis, it is more common in certain ethnicities, such as people of African, Brazilian, French, Irish, Japanese, Portuguese and Swedish descent.
