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 two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…
The molecule 3,4-diaminopyridine (3,4-DAP) — approved as Firdapse and Ruzurgi to treat people with Lambert-Eaton myasthenic syndrome (LEMS) — works to directly induce the release of chemical messengers by binding to potassium channels, without affecting calcium channels as previously thought, a study reported. …
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…
A positive SOX1 antibody test led to a post-mortem small-cell lung carcinoma (SCLC) diagnosis in a man with paraneoplastic cerebellar degeneration (PCD) and Lambert-Eaton myasthenic syndrome (LEMS), a case study reports. “To our knowledge, this is…
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…
Treatment with immunoglobulins, or antibodies — proteins that help fight off infections — successfully reduced symptoms of Lambert-Eaton myasthenic syndrome (LEMS) in a woman receiving immunotherapy for a rare type of skin cancer. Her case suggests that immunoglobulin therapy may prove an effective option for treating patients with…
The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…
Symptoms of Fisher syndrome can lead doctors to also diagnose asymptomatic Lambert‐Eaton myasthenic syndrome (LEMS), according to a case study in Japan. The report, “A case presenting electrophysiological and immunological characteristics of Fisher syndrome and Lambert‐Eaton myasthenic syndrome,” was published in the journal Muscle & Nerve.
A case report describes Lambert-Eaton myasthenic syndrome (LEMS) and cerebellar degeneration — deterioration in the cerebellum, a key brain area for balance and coordination — in a woman with neuroendocrine cancer, likely induced by Opdivo (nivolumab) treatment. …
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