News

Rare Disease Groups in US Join in Plea for Care Across State Lines

Over 230 national organizations signed a letter urging all 50 U.S. state governors to “maintain and expand” flexibility with licensure requirements for the duration of the COVID-19 pandemic to ease access to care. During the pandemic, governors used emergency authority to waive certain state licensure requirements, giving healthcare providers…

Metyrapone Safely Treats Cushing’s Disease in Pregnant Woman

Cushing’s disease was successfully treated using metyrapone in a pregnant women with no harm to the unborn baby, a case-report found. The report, “Cushing Disease Treated Successfully with Metyrapone During Pregnancy,” was published in the journal AACE Clinical Case Reports. Cushing’s syndrome is characterized by excessive levels of…

Rare Bone Tumor Led to Cushing’s Syndrome in Child

A recent report described the rare case of 9-year old girl who developed Cushing’s syndrome due to a hormone-producing Ewing sarcoma, a rare type of tumor that arises in bones or in its surrounding soft tissues. This case, according to the report’s authors, highlights the diagnostic challenges in identifying and…

Global Genes, Diversity Coalition Team Up to Advance Health Equity

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…

Rare Pituitary Carcinoma Managed With Radiation, Chemotherapy

An aggressive tumor in the brain’s pituitary gland, which caused severe Cushing’s disease, was successfully treated with rounds of radiation and chemotherapy with temozolomide, as described in a recent case report. The study, “ACTH secreting pituitary carcinoma: Rare, durable response to concurrent chemotherapy and re-irradiation with a review of…