News

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

A case report of a person diagnosed with Fahr’s disease related to post-thyroidectomy hypoparathyroidism highlights the importance of doing regular screening, including brain scans and blood tests, after this surgery. “Secondary Fahr’s Disease: A Consequence of Post-Thyroidectomy Hypoparathyroidism” was published in the European Journal of Case Reports…

Noting low parathyroid hormone (PTH) levels on the first day after total thyroidectomy can be useful for identifying patients at risk of developing permanent hypoparathyroidism, a single-center study in Italy has found. The findings were described in the report “Correlation between iPTH levels on the first postoperative…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

Hypoparathyroidism can trigger serious changes in heartbeat rhythm as a consequence of reduced blood levels of calcium, a case report highlights. The case was described in the study “Ventricular Arrhythmia Precipitated by Severe Hypocalcaemia Secondary to Primary Hypoparathyroidism,” which was published in the journal Case Reports…

The annual rate of surgeries should increase to reduce patients’ risk of developing hypoparathyroidism after undergoing thyroid surgery, a study says. The study, “Effect of surgeons’ annual operative volume on the risk of permanent Hypoparathyroidism, recurrent laryngeal nerve palsy and Haematoma following thyroidectomy: analysis of United Kingdom registry…

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…

Preserving at least three parathyroid glands is key to avoiding permanent hypoparathyroidism — resulting in abnormally low calcium levels in the blood and bones, and an increase in phosphorus in the blood — after thyroid removal surgery, research shows. The study, “Hypoparathyroidism After Total Thyroidectomy: Importance…

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…

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,…