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 a horrible genetic disease that Nicky Zahorcak was born with. A lot of his skin is raw, the slightest touch can cause blisters that quickly spread.  He says, "Right now, all the bandages that you see everywhere even on my sides, they're all raw … [more here...]

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

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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!

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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...]

Mom Gets “Lowe” Down to Get Son Right Diagnosis and Treatment


My son, Noah, was born in July 2011 with cataracts. That was the first sign something was wrong. Doctors would speculate what could have caused … [more here...]