Patient Stories

Jacob with Hyperekplexia Experience Extreme Stiffness

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A 4-year-old boy has been diagnosed with a rare, life-threatening illness that means he could literally be scared stiff at any moment, The Chronicle Live reported. At 8-months-old, doctors diagnosed Jacob Madgin, of North Tyneside, England, with hyperekplexia – a disease which causes him to […]

The Heart and Smile of a Champion: Brigitte with Noonan Syndrome


For eight year old Brigitte Kaiser, the Tewksbury Youth Football program was more than just a fun thing to do after school. It was a chance for her to escape a lifetime of medical concerns and social isolation, a chance to be with children her […]

Allison’s Rare Breathing Disorder: Taking Life One Breathless Night at a Time


I have a rare breathing disorder called Congenital Central Hypoventilation Syndrome (CCHS). An hour after I was born I stopped breathing. Six months later I was diagnosed with CCHS – a rare disorder that causes the inability to breathe when asleep. I use a tracheostomy […]

A Surprise Ataxia-Telangiectasz Diagnosis for Baby Brian


On December 29, 2010, our beautiful baby boy Brian came into this world and I was instantly in love. For the next year everything was bliss. He was reaching every milestone right on time and he filled our family with joy…we were complete. When Brian […]

Skye’s Paho Journey with Pheochromocytoma


For years I would blackout & hit the ground. I thought it was due to anything, except what it was. For years I had high blood pressure that would spike so high, till I would go to the emergency room and be diagnosed for anything […]

Recognize Rare, Son Starts Company to Benefit Mom and Other Rare Patients


My name is Jacob Shelt. I’m 19 years-old and a student at Bowling Green State University. In 2012, towards the end of my senior year of high school, my mom got very sick. She fell down an escalator, began stuttering words and complained of headaches. […]

Model Melanie Gaydos Opens Up About Ectodermal Dysplasia

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From the Huffington Post. No one is more beautiful and inspiring than model Melanie Gaydos. In this interview — part of a series called The What’s Underneath Project, which asks people to take their clothes off to prove “style is not the clothes you wear” — Gaydos […]