When you’re diagnosed with a disorder as rare as familial amyloid polyneuropathy (FAP), support groups can help you feel less isolated and better able to cope with your disease. What is FAP? Also called transthyretin amyloid polyneuropathy, FAP is a progressive genetic disease caused by the abnormal…
The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…
You have learned that you have familial amyloid polyneuropathy (FAP), a rare, inherited, progressive disorder caused by abnormal deposits of proteins around peripheral nerves and other tissues. Such news can be difficult to comprehend, but here are some suggestions for you to think about following a new diagnosis.
Because the first symptoms of familial amyloid polyneuropathy (FAP) usually appear after a person is well into adulthood, its diagnosis can be quite a shock. Then, there’s the progressive nature of this disorder and its physical toll, including cardiac complications, numbness, and postural hypotension. It can…
The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…
Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…
The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…