Celebrating an Angelversary for Daughter with Trisomy


Our daughter, Mataya Grace, was diagnosed at 22 weeks gestation with Trisomy 13. We were told her defects were so severe that we should expect her to die before she was born. We made the decision to put her life in God’s hands and to […]

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. […]

Mom Creates “Remarkably Rare” Apparel for Daughter with Alagille Syndrome


Our daughter Emmery was born in April of 2013. At birth she was seemingly born happy and healthy with just a slight increase in her billirubin levels. At the age of 6 weeks we noticed she was still very jaundiced and took her into the […]

Leslie with Pseudohypoparathyroidism Type 1B Reaches out Fellow Patients, Researchers


My name is Leslie and I am 34-years-old with a rare genetic disorder called Pseudohypoparathyroidism Type 1b. This was proven by genetic testing at the Cleveland Clinic, but completed at a Johns Hopkins lab. I was diagnosed with it at age ten along with hypocalemia, but just […]