Patient Stories

FOX LA Reports: Nicky with Recessive Dystrophic Epidermolysis Bullosa

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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 […]

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 $160,000 alone within a week of releasing an online video about her to raise money to fund a clinical trial for the cure […]

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 of a limousine at Skyventure Colorado in Lone Tree to high fives all the way from […]

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

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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 the cataracts but nothing seemed to solve the puzzle. I didn’t think the doctors were trying hard enough and a […]

Our “Labeled” Child’s Name is Simon: Fighting for Treatment

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My name is Sheryl Crosier and most importantly, I’m Simon’s mom. I am also Simon’s voice and the voice of our most vulnerable children. The lives of children, regardless of the diagnosis or syndrome, possess inherent dignity and value and deserve the best care. Our […]

Brian Gass, Affected With Ichthyosis, Will Travel 2,650 Miles

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As many of you affected with ichthyosis already know, at times, this condition can present enormous challenges. And yet, as many of you also know there are still other times when ichthyosis is simply a background hum to the music of life. Member Brian Gass, […]

Family Fights Daughter’s Diagnosis, Epidermolysis Bullosa, in High Style

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Four-year-old Melina Spinazola has been dealt a tough hand in her short life, but that didn’t stop her from dancing the night away with over 200 of her closest friends. Born with a rare, genetic skin condition called epidermolysis bullosa (EB), the Windham girl was […]