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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…

If a Maryland bill called Brynleigh’s Act becomes law, the state will join five others — all of which have passed “seizure safe schools” measures — in making sure every school is equipped with the tools necessary to provide a safe learning environment for students with epilepsy. The law…

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,…

Diacomit (stiripentol) is safe and effective at reducing the frequency of different types of seizures in people with Dravet syndrome when used routinely, including up to about two years, according to interim data from an ongoing study of its real-life use in Japan. Findings from the study, “…

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…

After its approval in Europe in December, Fintepla (fenuramine) now is  commercially available in Germany as an add-on treatment for seizures associated with Dravet syndrome in patients 2 and older, the therapy’s developer, Zogenix, recently announced. “With the launch of FINTEPLA in Germany, physicians and caregivers here…

International Epilepsy Day (IED), falling on Feb. 8 this year, calls attention to the needs of the roughly 50 million people globally who are affected by the brain disorder. “This is a day for everyone, no matter where you are, no matter how small your group or large your area,…

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…

By implementing a free-of-charge epilepsy genetic testing program, it is possible to lower the average age of molecular diagnosis of children with epileptic disorders caused by mutations in the SCN1A gene, such as Dravet syndrome, from more than 6 to less than 2 years of age. The study with…