News

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

Tumors in the thymus that produce too much of the adrenocorticotropic hormone (ACTH) may be the cause of ectopic Cushing’s syndrome, a case report shows. ACTH staining may be useful to confirm ACTH production in suspicious tumors, researchers said. The study, “Ectopic Cushing’s syndrome due to adrenocorticotropic hormone secreting…

Cases of adrenocorticotropic hormone (ACTH)-independent Cushing’s syndrome are often caused by unilateral tumors in the adrenal glands, but Indian researchers have now reported a rare case where the condition was caused by tumors in both adrenal glands. Fewer than 40 cases of bilateral tumors have been reported so far, but…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Patients with Cushing’s disease may develop post-traumatic stress symptoms, which are generally resolved once they undergo surgery to remove the tumor, but can persist in some cases, a study shows. The study, “Posttraumatic stress symptoms (PTSS) in patients with Cushing’s disease before and after surgery: A prospective…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

In the modern era, three new cases of Cushing’s syndrome are being diagnosed annually per one million inhabitants, according to results from a study conducted in a region of Sweden. Also, more patients with ectopic Cushing’s syndrome are being diagnosed compared to prior reports, which researchers attribute to an increased awareness…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

The oral chemotherapy temozolomide might be an effective treatment for Cushing’s disease caused by aggressive tumors in the pituitary gland that continue to grow after surgery and taking other medications, a case report suggests. The study, “Successful reduction of ACTH secretion in a case of…

Clinical outcomes of Cushing’s disease patients who undergo endoscopic endonasal surgery to remove a pituitary adenoma are similar to those seen in patients who underwent previously used microscope-assisted techniques. According to a new study, that means despite the need for specialized training and equipment, using an endoscopic endonasal approach…