Ireland’s First Rare Disease Plan Published

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Rare diseases, by their very nature, are one of the most challenging issues for any health service to deal with. A rare disease is defined in the EU as a disease or disorder affecting fewer than five in 10,000 of the European population. Difficult to […]

Drug Derived From Milk of Genetically Modified Rabbits to Treat Rare Swelling Disorder

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The FDA has approved new drug, Ruconest, to treat people with Hereditary Angioedema. The new drug, developed in partnership by Salix Pharmaceutical and Pharming, is intended as a protein replacement treatment for people with hereditary angiodema. The disease affects between 6,000 and 10,000 people in the […]

UK Girl Dies After Doctors Fail to Diagnose Addison’s Disease

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A “VIVACIOUS and lively girl” died after her rare medical disorder went undiagnosed by doctors. Clare Cooper died aged 24 in February 2013 from Addison’s disease, a rare disorder of the adrenal glands affecting the production of the hormones cortisol and aldosterone. An inquest into […]

Parents Share Hope, Concern Over the Future for Daughter with Niemann Pick Type C

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They say life can throw a curveball at you at any time. As a mother of a child with Niemann Pick Type C (NP-C) I know how that feels. Our curveball was thrown in 2007 when Hollie was diagnosed with the disease and we were […]

Diagnosed with Common Variable Immune Deficiency at 62

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My medical journey began in 2009, when I was 62, but I didn’t have real answers for another two years. After months of severe abdominal issues, my gastroenterologist diagnosed lymphocytic colitis, a chronic disease. After months of rest, diet change and medication, I was finally […]

Neuropathy Association Partners with Research Match

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The Neuropathy Association is now collaborating with ResearchMatch to bring together people who are trying to find neuropathy clinical research studies and researchers who are looking for people to participate in their studies. Why? To accelerate neuropathy research! If you’ve ever been told “There is nothing that can […]

College Student Bikes Across America to Honor Late Boyfriend with Sinonasal Undifferentiated Carcinoma (SNUC)

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When Katie Gundlach’s boyfriend Ryan Donaghey died suddenly from a rare form of nasal cancer at the age of 21, she felt like her world had been flipped upside down. After experiencing chronic nosebleeds, Donaghey was diagnosed with sinonasal undifferentiated carcinoma (SNUC) in the summer […]