hATTR-PN

When I married my husband, Aubrey, I knew a hereditary and life-threatening disease affected some members of his family, but I had little other information…

The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing…

Switching to Onpattro (patisiran) following liver transplant and treatment with tafamidis lessened persistent disease progression in a patient with severe familial amyloid polyneuropathy (FAP),…

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,…

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…

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around 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…

Vutrisiran, an experimental therapy for familial amyloid polyneuropathy (FAP), continued to safely alleviate neurologic impairments and overall disability over 18 months of treatment,…

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,…