Author Archives: Mary Chapman

EveryLife Introduces First of Kind ‘Roadmap’ to ICD Codes

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…

‘Break a Sweat for Fabry’ and Other Activities Mark Awareness Month

Activities ranging from sharing educational posters to “breaking a sweat” are underway to mark Fabry Disease Awareness Month, set aside each April to call attention to this rare genetic disorder. Awareness and education are crucial to increasing the recognition, diagnosis, understanding, and management of Fabry disease, estimated to affect about…

How Family Members Can Help Fabry Disease Patients

Fabry disease is a progressive, rare, genetic disorder that can lead to a number of health issues that affect a person’s everyday life. Following are some ways that family members can assist someone living with Fabry disease. About Fabry disease Fabry disease results from the abnormal buildup of a…

FAQs About Replagal

Replagal is a treatment for Fabry disease patients ages 7 and older. Shire (now owned by Takeda) developed it. Although in use in many countries, including those of the European Union, the U.S. Food and Drug Administration (FDA) has not approved Replagal. Following are answers to some frequently…

Rare Disease Day at NIH, Set for March 1, Growing Year by Year

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…

Fabry Disease and Shoshin

A Japanese concept called shoshin might help people with diseases such as Fabry disease change their perspective and see their world, and their disorder, in a different light. What is Fabry disease? Fabry disease is a progressive and rare genetic disease. It results from the abnormal buildup of a…

Importance of Advocacy for Fabry Disease

If you or a family member has a rare disorder such as Fabry disease, you may want to get involved with health advocacy efforts. In general, these efforts promote health and access to care at individual and community levels. Here is more information about advocacy and ways in which…

Pandemic Won’t Stop Rare Disease Day on Feb. 28

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. 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…