Patient Stories

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


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

First Skin Travel

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


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 […]

Girl, Three, Diagnosed With Coat’s Disease After Facebook Photo Shared


When Tara Taylor posted a photo of her daughter Rylee on Facebook, she thought the glow in the little girl’s left eye was just a reflection of the flash. However, Tara’s friends started to leave comments suggesting that Rylee get her eye checked just in case. Soon […]

Meghan Talks Bravery When it Comes to Cowden Disease


At just two weeks post-op from a complete thyroidectomy, Cowden’s patient Meghan Ortega addressed her school during a movie night screening of Brave. In honor of World Rare Disease Day, Meghan bravely took the podium to discuss what life is like for kids with rare […]

Sent Home Twice from the ER, Lara-Jade Diagnosed with Guillain-Barre and CIDP


My name is Lara-Jade, I am 26 years old and live in South Australia. In March 2013 I was diagnosed with Guillain-Barre Syndrome (GBS). It started off one day waking up with a cramping pain in my calf muscles. Over a week, this worsened and […]

Baby Nora Battles Dandy-Walker Malformation


My 11 month old daughter was diagnosed in utero with Dandy-Walker Malformation. The doctors gave us the most grim outcomes and encouraged us not to go through with the pregnancy. I never listened to them and I knew from others with DW that there was hope […]