Author Archives: Mary Chapman

Note: This story was updated April 1, 2022, to add events being held by Global Porphyria Advocacy Coalition, the umbrella organization for porphyria patient advocacy organizations. From hosting film watch parties to posting photos of pets, supporters are set to mark Porphyria Awareness Week (PAW), observed April 2–9 this…

Raising awareness about acute hepatic porphyria (AHP) and helping to shorten the time it takes to get diagnosed with the rare disease are the goals of a new documentary by Alnylam Pharmaceuticals. The film, “Two of Me: Living with Porphyria,” chronicles the lives of seven people from different…

The porphyria community has a new patient advocacy organization in the United Porphyrias Association (UPA), a newly launched nonprofit that seeks to advance disease awareness, as well as research and treatment development. The Maryland-based organization will strive to enhance patients’ lives through improved diagnostics, porphyria management, and an emphasis…

At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…

Activities are afoot to mark Porphyria Awareness Week — taking place April 10–17 this year — set aside annually to call attention to this group of inherited disorders that affect an estimated 1 in 500 to 1 in 50,000 individuals globally. Supporters are encouraged to engage in Zoom sessions and…

A portrait of Morgan McKillop, a pre-teen who has erythropoietic protoporphyria (EPP) and is an active member of the American Porphyria Foundation (APF), has been chosen to be a part of an art gallery of faces representing rare diseases. McKillop’s image, which is done in muted tones and…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

Living with a rare and chronic disease such as porphyria, with its multitude of symptoms, can make it hard to stay motivated. Here are some tips that may inspire you to keep going on those days when motivation is hard to come by. Ask for support Sometimes, daily life…