Building awareness and communities to support and find treatments for Rare Diseases and Genetic Conditions
By Ricki Lewis, PhD “When you hear hoof beats, think horses, not zebras.” So goes the mantra of first-year medical students. If a common disease is a horse and a rare disease a zebra, then giant axonal neuropathy (GAN), with only 50 or so recognized cases [...]
I’m not going to lie. The moment I landed my second rare disease diagnosis, I basically threw my hands up in the air and said, “Alright—I’m screwed.” Career-wise, there was no way I was coming back from this. I mean who hires a girl who [...]
Twin brothers Forrest and Daniel Thiess had always wanted to serve in the U.S. military, but because of a rare illness, they can’t, WKRC reported. Both men, who live in Mason, Ohio, enlisted at the age of 17 – Forrest as a Marine, Daniel as [...]
Eosinophilic Esophagitis….it’s a mouthful. For a while, my daughter called it “E-something” when trying to explain to others about her condition. In January 2011, I received a call from my daughter’s pediatric gastroenterologist. Abbey had been diagnosed with a condition that I had to ask [...]
Read Stacey’s Original Story Here. Hello to those who suffer from this horrible, debilitating and painful disease. My update since I posted last (which, forgive me, has been a while): I just barely received PCN Medicaid, which is the lowest Utah state medical insurance. It won’t cover the surgery I [...]
I have Ehlers-Danlos syndrome. One name. A thousand problems. It started when I was born. The doctors said I was a “floppy” baby–which generally indicates a form of autism. But I was also born with hyptonia, scoliosis, dislocated hips and breathing problems. So the warnings of [...]
I first wrote about Abby here. I was encouraged to give an update about Abby because so much has happened since this was published in August! On September 6, 2012, Abby was officially trach-free! She had a successful decannulation and proved the doctors wrong [...]
My personal journey with Mal de Debarquement Syndrome (MdDS or disembarkment syndrome) began over eight years ago, even though it is supposed to be a “self-limiting” disease. I have been part of the MdDS Balance Disorder Foundation to help get recognition for this rare and [...]
How do you tell the story of someone who has no words? As her mother, I can only give my side of the story and just hope that I can put into words just how very special Sierra is in this life. Sierra was born [...]
