hATTR-PN

Those of us who are caregivers have many of the same underlying goals. But while we all care for our ill loved ones, our approach to caring can vary. Some of these differences may be due to cultural practices. I grew up in Malaysia as the eldest of…

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…

I returned to the gym this week to work out. The last time I hit exercise classes and equipment was in 2016, shortly before my husband’s liver transplant, and three years after he was diagnosed with hereditary ATTR amyloidosis. Looking back, I have always been a gym junkie. I…

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…

More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the EveryLife Foundation’s Rare Disease Legislative Advocates (RDLA) program, the event brings together community members from across the U.S. to…

As a caregiver, have you ever felt like you’ve been thrown into the deep end and are treading water just to survive? Perhaps this overwhelming experience doesn’t happen regularly enough to leave an impression, but when it does, it can feel like the rug has been pulled out from underneath…

Patient enrollment is complete for the Phase 3 NEURO-TTRansform trial testing Ionis Pharmaceuticals’ eplontersen in adults with familial amyloid polyneuropathy (FAP). The trial exceeded its enrollment target of 140 participants, with Ionis now expecting to register more than 160 patients in the study. “The speed of enrollment…

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other U.S. patient organizations. The interim final rule will implement patient protections required by the No Surprises Act. Surprise…

Today, I’d like to talk about caregiver burnout, which extends beyond the physical burnout of completing various caregiving tasks. It also entails more than feeling helpless when a caregiver is unable to meet the expectations of the rest of the family. Caregiver burnout stems from the gradual mental and…

Challenges with mental health often follow a person being told that they carry a mutation that causes familial amyloid polyneuropathy (FAP), a rare and progressive disease of adulthood, a study reports. “These results highlight the burden of [FAP] for patients and their relatives. Patients, carriers and their relatives and…