hATTR-PN

Chinese patients with hereditary transthyretin (ATTR) amyloidosis, also known as familial amyloid polyneuropathy (FAP), have highly variable genetic and clinical profiles, a retrospective study has found. Yet, according to study findings, Val30Met remains the most common genetic mutation associated with the disease in China. The study “Hereditary…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

2013 was a landmark year for my husband, Aubrey, and me. That October, we received confirmation that Aubrey has hereditary ATTR amyloidosis. The results were based on a biopsy of his gastrointestinal cells using the Congo red stain method of amyloid detection. I felt numb after hearing the…

Gastrointestinal (GI) symptoms, particularly unintentional weight loss, occur frequently in people with hereditary transthyretin amyloidosis, also known as familial amyloid polyneuropathy (FAP), according to data from an Italian study. Indeed, more than 80% of the patients in this study reported experiencing at least one GI symptom, a percentage well…

Since my husband, Aubrey, was diagnosed with hereditary ATTR amyloidosis in 2013, my journey as his caregiver has taken me to some difficult places. The biggest challenge has been letting go of my expectations of what our relationship should look like and accepting what it has…

The European Commission (EC) has granted orphan drug status to Intellia Therapeutics’ NTLA-2001 gene-editing therapy for transthyretin amyloidosis (ATTR), a group of disorders that also encompasses familial amyloid polyneuropathy (FAP). Orphan drug status comes with benefits designed to ease a potential medicine’s path to market. “This news is…

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…

In his book “1984,” George Orwell wrote, “Of pain you could wish only one thing: that it should stop. Nothing in the world was so bad as physical pain. In the face of pain there are no heroes.” I pondered writing about this…

Nerve function deteriorates more rapidly in people with familial amyloid polyneuropathy (FAP) than in those with other peripheral nerve disorders, a literature review has found.  These findings may improve the understanding of the natural history of nerve damage in FAP and…

As I write this, my husband, Aubrey, is undergoing surgery to remedy his congested nasal passages, which have reduced the oxygen flow into his lungs. It will take about 70 minutes. Turbinate reduction surgery is safe and straightforward for most people. Usually, the patient is monitored for a few…