Finding the Beautiful Life After Diagnosis

Last weekend, a friend visited from another state. An enthusiastic cook who is curious by nature, he suggested we experiment with a new recipe. We decided to make Afghan ashak, which are leek-stuffed wonton dumplings with garlic yogurt and spicy tomato sauce, and topped with a garnish of cilantro and…

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…

Most people set an alarm to wake up. I’m fortunate — and grateful — that I’m not one of them. For several years, I’ve been self-employed in music and writing. This means I rarely need to be anywhere early in the morning. My music students don’t trickle in until after…

A novel index that computes five simple laboratory results at the time of diagnosis may improve predictions of all-cause mortality among patients with ANCA-associated vasculitis (AAV), a South Korean study reports. These lab results include the levels of immune neutrophils, lymphocytes, and monocytes, and of proteins C-reactive protein and…

More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the EveryLife Foundation’s Rare Disease Legislative Advocates (RDLA) program, the event brings together community members from across the U.S. to…

Rituximab is safe and effective for inducing remission in two types of ANCA-associated vasculitis in children and adolescents: granulomatosis with polyangiitis (GPA) or microscopic polyangiitis (MPA), according to data from a Phase 2a trial. After one and a half years on the trial, all patients achieved remission, and safety…

In 2004, when I was a teenager who hadn’t yet been diagnosed with granulomatosis with polyangiitis, I suffered a severe onset that required a drug-induced coma for treatment. I’d only been awake a few days when I heard a cheerful voice outside my ICU room. “Would your patient like…

A reduced dosage of rituximab maintenance therapy may be effective at preventing relapses among people with ANCA-associated vasculitis (AAV), a new study reports. Specifically, the researchers said 500 mg infusions every six months “appear to be an effective and safe option” for maintaining AAV remission. “This study provides real-world…

Symptoms differ among people with the rare disorder eosinophilic granulomatosis with polyangiitis (EGPA), depending on whether they test positive or negative for antineutrophil cytoplasmic antibodies (ANCAs). A recent case study revealed that ANCA-positive patients tended to have more blisters, body-wide inflammatory symptoms, and to receive higher doses of oral…