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Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

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…

Subcutaneous (under-the-skin) administration of human plasma-derived C1 inhibitor is an effective and safe option for managing hereditary angioedema during pregnancy and lactation, a case report suggests. The study, “Subcutaneous C1‐Inhibitor Concentrate for prophylaxis during pregnancy and lactation in a patient with C1‐INH‐HAE,” was published in the…

People with hereditary angioedema (HAE) would prefer an oral medication that could prevent their attacks, even when satisfied with their current treatment, a survey of patients in the U.S. reports. The study, “Hereditary angioedema patients would prefer newer-generation oral prophylaxis,” was published in the Journal…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

Perceived stress affects how patients manage their care and influences their mental health, according to a study in people with hereditary angioedema (HAE) with C1 inhibitor (C1-INH) deficiency. Therefore, psychological interventions could increase the interest and involvement of these patients in their own care and…

Using oral KVD900 as an on-demand treatment for hereditary angioedema (HAE) attacks is safe and significantly reduces both the use of rescue medications and the time to symptom relief, according to top-line results of a recently completed Phase 2 trial. Notably, the oral therapy significantly speeded up the…

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…

A majority of women with hereditary angioedema (HAE) remain stable or even experience a reduction in disease severity after menopause, a small study reports. Improvements were mostly observed in women whose HAE was sensitive to estrogen fluctuations before…

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…