Mary Chapman, features writer —

Beginning in July, a global 24-hour emergency and urgent care hotline will be available for provider-to-provider consultations to appropriately manage issues, particularly seizures, related to Angelman syndrome. The free hotline is funded through an Emergency Care Consortium grant provided by the Foundation for Angelman Syndrome Therapeutics (FAST). The…

Two U.S.-based Angelman syndrome (AS) nonprofits have created a working group that aims to further awareness and treatment of the rare genetic disorder through legislative advocacy. The Foundation for Angelman Syndrome Therapeutics, known as FAST, and the Angelman Syndrome Foundation, called ASF, have formed a legislative group…

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…

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…

On International Angelman Day (IAD), Feb. 15 this year, supporters are hoping to draw widespread attention to the complex genetic neurological disorder and prompt conversations about the community and its needs. Angelman syndrome (AS) — which affects about 1 in 15,000 people, or half a million, worldwide — can…

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…

The establishment of Foundation for Angelman Syndrome Therapeutics (FAST) operations in Latin America is expected to improve the quality of life for the roughly 42,000 people in that region who are living with Angelman syndrome (AS). FAST Latin America (FAST LatAm) has become the regional umbrella for the…

Providing constant care to a person with a chronic disease like Angelman syndrome can drain you mentally, physically, and spiritually. At some point, you must recharge, and respite care can provide you with that opportunity to rest, relax, and restore. What is Angelman syndrome? Angelman syndrome is a rare genetic…

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…

Butterflies, ballerinas, and abstract flowers are featured among the winning artwork of this year’s Rare Artist contest, hosted by the EveryLife Foundation for Rare Diseases to heighten awareness about rare disease communities and salute the creativity of its members. Awardees will be able to display their art and…