Patients Benefit from Open Dialogue and Scientifically Accurate Information on Medicines


Some draft guidances issued by the Food and Drug Administration (FDA) have a more direct impact on patients than others. The Agency’s recent draft guidance on social media could have a direct impact on the ability of me and other patients to get information on the medicines we take and also to share our feedback with the biopharmaceutical companies that develop those medicines. While I joined … [more here...]

FOX LA Reports: Nicky with Recessive Dystrophic Epidermolysis Bullosa


Thanks to FOX LA for this piece. Hell on earth, that's how some doctors describe Recessive Dystrophic Epidermolysis Bullosa also known as E.B. It's … [more here...]

Family of Young Girl with Sanfilippo Syndrome Raises $400,000 Towards a Cure

Screen Shot 2014-04-16 at 10.39.03 AM

Eliza O'Neill has Sanfilippo syndrome, and her body and mind is expected to begin deteriorating within months without treatment. The family raised … [more here...]

Duchenne Muscular Dystrophy Patient, 8-Year-Old Max, Becomes Iron Man for the Day!

Screen Shot 2014-04-16 at 10.36.10 AM

An eight-year-old with a rare disease got his wish on Tuesday and it was a day like no other for him and his family. The Vertin family stepped out … [more here...]

Exclusivity: How The Government Keeps Orphan Drugs in Production


Why did the FDA grant BioMarin this permission, known in bureaucratic lingo as a “six-month pediatric exclusivity extension”? BioMarin … [more here...]

Comprehensive Study of Ménière’s Disease Reveals New Insights


n the most comprehensive study of Ménière's Disease to date, researchers at the University of Exeter Medical School have been able to suggest what … [more here...] Brings Unique Patient Communities to Rare Patients


When a person is initially diagnosed with a rare disease, it’s vital for them, their family, their friends and their caregivers to know that they are … [more here...]