Patient Story

A Family Travels the World for Diagnosis of Rare Skeletal Dysplasia for Two Sons
By Nenna Janseen In 2008, Adam and I were planning to start a family. At the time, we were plagued by uncertainty and fear. Dozens of… Continue Reading
May-Thurner-Syndrome
20-Years-Old With With May Thurner Syndrome
My name is Maria and I’m 20-years-old. I am from the island of Puerto Rico. I will be sharing my story of how I found out I have the May… Continue Reading
Levi’s Story: From ADHD to MPS III C
Levi was born on July 11th, 1998. He was a healthy 6lb, 7oz little boy. We had no clue at the time he was sick with a deadly disease. He… Continue Reading
How Astigmatism Saved My Daughters Life
When my daughter turned five-years-old, I had scheduled her a yearly check-up with her pediatrician. Just like every year Cienna appeared to… Continue Reading
Undiagnosed Disease Awareness: Eli’s Story
by Meital Benari Our journey started on January 16, 2011 when our son Eli of 4 month old suddenly collapsed at home. He was taken to the ER.… Continue Reading
One Patient’s Warning to Not Rely on One Doctor for a Diagnosis
By Alésia Chevaleret As a young child growing up, I was super active. I’ve dealt with asthma and allergies since before I could remember… Continue Reading
Genetic Testing Proves Unimaginably Useful for 5-Year-Old Keira
by Christina Defina Keira is 5 years old. She was born with a rare genetic eye disease called LCA or Lebers Congenital Amaurosis. It’s a… Continue Reading