Active todayExperience with Rare Eye Diseases like Retinitis Pigmentosa?...I recently learned about Retinitis Pigmentosa (RP), which is a rare inherited eye disease that slowly affects the retina and can lead...reactions1replyAwareness
Active 4 days ago45 years diagnosed Scleroderma...Because outwardly I appear to be fine most people just f fr o not understand how you can look ok but be...reactions2replies
My Rare Disease: Primary Immunodeficiency CVID...Hi. My name is Sandy. Here's my story. All my life I struggled with multiple infections, viruses and sickness. I can remember...reactions2comments
No One Thought to Check...I have had hematuria most of my life. I was diagnosed with it in my 20s. I had so many Intravenous Pyelograms...reactions2comments
Beta Thalassemia ...I’ve gone through growth (extra long arms) and bone problems, enlarged spleen and liver, heart problems (like arrhythmias and heart failure from...reactions1reply
Persistence in believing in yourself....It has been a long ten years. Ten years feeling like they were stolen only to realize that they were actually wrapped...reactions1reply
Common Variable immune deficiency ...I was ill from birth. Was not diagnosed until 45 years old. I have damage to my lungs from many infections. Two...reactions1reply
How does someone get a diagnosis without understanding what's going on?...I have been on a diagnosis journey for two to three years. My primary symptoms are syncope, joint and muscle pain, and...reactions2repliesDiagnosis
Getting doctors to understand ...I spent 10 years of my life in excruciating pain. The last two years of my life I considered not being here...reactions2replies
My Journey with HER2-Positive Breast Cancer and Discovering Trastuzumab Botidotin – Anyone Else on This Path?...I wanted to share my story here because I know how isolating it can feel when you're dealing with something like HER2-positive...reactions1reply
My Son Has Familial Adenomatous Polyposis (FAP) Syndrome...My ex was not happy with our son’s height,. He felt our son wasn’t growing.I reminded him that our older son, Michael...reactions3comments
A Lifetime of Being Disbelieved...10 years ago I was diagnosed with progressive systemic sclerosis, SSc.For many years I've suffered with severe gastrointestinal issues, and for years...reactions4comments
One In Fifteen: My Story...I was born at 24 weeks - weighing under a pound and was only 8 inches long. My parents were told I...reactions1comment
Seeking others with Houge-Janssens Syndrome...Hello. My son received a diagnosis of Houge-Janssens Syndrome type 3. It is caused by a mutation in the gene designated PPP2CA...reactions1replyDiagnosisNewly DiagnosedAwareness
Stange constellation of symptoms - anyone had a similar experience and found a diagnosis or effective treatment?...Hello, I've been struggling for years now with massive changes in my body, and I'm really worried for my health, as I...reactionsrepliesDiagnosisSymptomsTips & Advice
Hurler syndrome...My one-year old granddaughter has just been diagnosed with Hurler syndrome (MPS1). To say I am devastated is an understatement. I can;t...reactions2repliesCoping
Dystonia, epilepsy or something else?...I gave been having worsening bilateral facial spasms 1-3x per day that last 2-5 minutes. They are preceded by light nausea and...reactions1reply
At 77,my long life with Hypermobile Ehlers-Danlos Syndrome Is beyond painful; others can’t see it...reactionsreplies
Has Anyone Here Been Diagnosed with Retinitis Pigmentosa?...Has anyone here been diagnosed with Retinitis Pigmentosa (RP)? It’s a rare inherited retinal disease that often starts with night vision problems...reactions1replySymptoms
