hATTR-PN

It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.

Every week I sit at my desk and ponder what I should write about. As I stare out the window that faces my street, I reflect on everything my husband, Aubrey, and I have encountered on our amyloidosis journey, and the tools that have helped us survive. I’m not…

A skin biopsy may help speed up the diagnosis of familial amyloid polyneuropathy (FAP), including for asymptomatic people with disease-causing mutations who are at higher risk of developing full-blown disease, according to a single-center retrospective study. This would allow patients, especially those with the Val30Met mutation, to receive treatment…

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…

Lunar New Year celebrations, which began on Feb. 1, last for 15 days. As I write this on the eve of that date, I am busy cooking a selection of traditional dishes for the family to enjoy. Because we live in New Zealand, a Western country far away from family…

Vutrisiran, an experimental therapy for familial amyloid polyneuropathy (FAP), continued to safely alleviate neurologic impairments and overall disability over 18 months of treatment, according to new data from the ongoing Phase 3 HELIOS-A trial. Those being given the therapy, administered as an under-the-skin injection once every three months,…

I recently counted the number of plants in my house and came up with 45. I’ll admit I’ve gone slightly overboard, but in my defense, my passion began two years ago. When the pandemic hit here in New Zealand, many of us were forced to stay home. We took up…

The U.S. Food and Drug Administration (FDA) granted orphan drug status to eplontersen, an investigational therapy that seeks to prevent the buildup of toxic protein deposits in people with transthyretin (ATTR) amyloidosis — a group of disorders that also includes familial amyloid polyneuropathy (FAP). The therapy is being co-developed…

My alarm goes off at 5:30 every morning, and I mute it as quickly as possible to avoid waking my husband, Aubrey (if he’s even in bed, that is, as he suffers from insomnia). I go for a run before sunrise and avoid the crowds, as very few people…

The toxic transthyretin (TTR) clumps that form in people with familial amyloid polyneuropathy (FAP) caused by Val30Met, the most common disease-causing mutation, are structurally different in the eye and the heart, a study suggests. These findings highlight the structural variability of TTR clumps between organs, even when associated with…