This morning, Alnylam Pharmaceuticals, Inc. has announced an initiative in which it will partner with families affected by hATTR amyloidosis for a new website and book.
The initiative, called Bridge the Gap
, will allow families that have lived with the rare disease for generations to share their personal accounts. The book is titled “Living a Rare Life,” and can be found, along with other educational content, at hATTRBridge.com
hATTR amyloidosis is a progressive, life-threatening genetic disease, caused by a mutation in the transthyretin (TTR) gene, resulting in the misfolding of transthyretin (TTR) proteins. In turn, amyloid deposits are formed throughout the body, and amyloid fibrils that deposit in different organs are created. The process results in a series of debilitating symptoms.
“As one of the founders of a center that specializes in amyloidosis, I’ve witnessed firsthand the devastating impact a delayed diagnosis can mean for an individual’s quality of life,” said Sami L. Khella, M.D., Chief, Department of Neurology, Penn Presbyterian Medical Center and Professor of Clinical Neurology, University of Pennsylvania School of Medicine in a press release
. “Through Bridge the Gap
, we hope to raise awareness of hATTR amyloidosis to help those at risk of this complex condition identify symptoms and receive the proper medical attention they need to reach an earlier diagnosis.”
Angel, a caregiver for her family, carries one of the gene mutations that causes hATTR amyloidosis.
“hATTR amyloidosis runs in my family and many of my relatives are living with the condition or have passed away from it,” she said. “Early on, my family called the condition ‘the curse’ because no one knew what it really was and they experienced a wide variety of symptoms and misdiagnoses. I’m excited to be partnering with Alnylam on Bridge the Gap
to share my family’s story and empower others to take action and seek support.”
In addition to the book, the initiative’s website provides resources and information for those living with hATTR amyloidosis and their families. Visitors to the site will find a list of clinical trials pertaining to the condition, information on how to become a patient advocate, and videos based around patient perspective and featuring firsthand accounts from patients and caregivers.
There is also a guide on how to begin conversation with relatives about health history, and tools to facilitate dialogue with a healthcare professional about how to seek genetic counseling and a diagnosis.
For more information on advocacy efforts happening throughout the rare disease community, follow Rare Disease Report