hATTR-PN

A few days ago, I had the honor of presenting at this year’s Patients as Partners Europe virtual conference, an industry forum centered on exchanging ideas about how to more readily provide therapeutics to patients. A vast majority of attendees were from the pharmaceutical industry, clinical research organizations, and…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Familial amyloid polyneuropathy (FAP) is an inherited, progressive disorder that can lead to multiple health issues affecting your everyday life. Here are some frequently asked questions (FAQs) about FAP. What causes FAP? Mutations in the TTR gene cause FAP. The mutations lead to the formation of abnormal protein deposits…

People with hereditary transthyretin (ATTRv) amyloidosis, which includes familial amyloid polyneuropathy, experience multiple medical issues prior to diagnosis, with potential ATTRv markers commonly appearing in the year before, according to a recent study. A better understanding of patient experiences may help speed its recognition and diagnosis. The study, “…

Earlier today, I had the privilege of listening to a fellow carer share the mental, emotional, and physical trials she experienced while supporting her late husband, who was afflicted with hereditary amyloidosis — the same condition my husband, Aubrey, has. I couldn’t help but get choked up…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

Providing constant care to someone who has a chronic disease such as familial amyloid polyneuropathy (FAP) can sap you physically, mentally, and spiritually. At times, you will need to recharge your body and mind. Respite care can give you the opportunity you need to rest and restore your energy. What…

Symptoms related to familial amyloid polyneuropathy (FAP) and other forms of hereditary transthyretin (ATTR) amyloidosis were found in African American and Hispanic or Latinx individuals who unknowingly carried a disease-related genetic variant revealed by genomic screening, according to a recent study.

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

Familial amyloid polyneuropathy (FAP) leads to the formation and accumulation of abnormal protein clumps or amyloids. This accumulation can cause issues in a number of different organs including the heart. Research has shown that around 80% of FAP patients have heart problems. So if you have FAP, your doctor…