Building awareness and communities to support and find treatments for Rare Diseases and Genetic Conditions
Read Stella’s original story here. An Update: Stella was born with Type 2 Gaucher Disease. She was diagnosed at six months of age. She is now two and a half years old and continues to fight this uphill battle every day. Since October, her neurological symptoms have increased [...]
My Name is Harper Elle Howard. We met back in July 2012. You might remember me as Harperpotamus, as my family likes to call me. I am three years old and have a rare, life-threatening, non-hereditary, genetic disorder known as CDKL5 (Cyclin Dependent Kinase Like 5) [...]
Gage was born with a rare form of an even rarer disease called Diffuse Cutaneous Mastocytosis (DCM). He has struggled so much with thickened, red skin, blisters, hives, flushing episodes, skin and bone pain, as well as stomach pain and uncontrollable, fierce itching. DCM has [...]
When my mom was in her early forties she was diagnosed with Systemic Lupus and Sjogren’s disease. She was followed by a rheumatologist and given medications for supportive care when her Sjogren’s (which always seemed more active) flared. Then one morning, in early January, she [...]
Don’t miss Jonny Lee Miller on “Sanjay Gupta, MD,” talking about Jonah’s Just Begun and his ultra-marathon. Saturday, May 11th, at 4:30 p.m. ET and Sunday, May 12th, at 7:30 a.m. ET. (CNN) – It was the most devastating news an unsuspecting new parent could ever hear. I [...]
It’s all in your head… or I don’t “see” anything wrong with you. That is all I heard for many years. I was a freak show as a child. My friends all wanted to see the tricks I could do. It was all fun and [...]
We last heard from Carla Davies in August of 2012 in her story, “Newly Wed Mom Battles Idiopathic Intracranial Hypertension and Raises Awareness for Rare Disesase.” After being diagnosed with IIH and migraines, I try to keep positive for my son who is now 18 [...]
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 [...]
