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
Undiagnosed: chest tightness and pressure in head...For the last 3 years my male partner of 8 years, who appears perfectly healthy, has been plagued by unexplained symptoms that...reactions2repliesDiagnosisSymptoms
Crafting Hope: How Art Helps Me Navigate Rare Disease...Living with a rare disease can be exhausting and monotonous. The uncertainty of living with a chronic condition can cast a shadow...reactions4comments
Art to cope with your rare disease...Do you use art or creative outlets to cope with your rare disease? If so, please share your favorite projects with us...reactions14repliesCoping
Wisdom Teeth Removal...Hi Everyone, I hope you are all doing ok. I am just looking for some guidance. My son is 21, has had...reactionsrepliesSurgeryTips & Advice
Understanding and Managing the Non-Pancreatitis Symptoms of Familial Chylomicronemia Syndrome...When people talk about familial chylomicronemia syndrome (FCS), they often focus on acute pancreatitis. This severe abdominal pain is a serious and...reactionscomments
Andersen-Tawil Syndrome Diagnosis: Full Circle...In 2009, my baby brother collapsed while running in a track meet. He was 16, and I already worked as a pediatric...reactions3comments
Can glaucoma develop even if your eye pressure is normal?...Yes. This condition is called normal-tension glaucoma, and it occurs when the optic nerve is damaged despite having eye pressure within the...reactionsrepliesCaregiving
How can OCT and retinal photography reveal eye diseases before you even notice symptoms?...OCT (Optical Coherence Tomography) and retinal photography are advanced imaging techniques that allow eye doctors to see beneath the surface of your...reactionsrepliesAwareness
Myasthenia gravis...My 2 year boy baby suffering droopy eyelid and we have taken acytylcholinestrease receptor test and observed 1.08 value.though RNS negative, tensilon...reactions1reply
What Is Familial Chylomicronemia Syndrome (FCS)?...Familial chylomicronemia syndrome, or FCS, is a metabolic disorder. This means it is a problem with how the body processes substances to...reactionscomments
What is Retinitis Pigmentosa, and how does it affect vision over time?...Retinitis Pigmentosa (RP) is a rare, inherited eye disease that affects the retina, the light-sensitive tissue at the back of the eye...reactionsrepliesSymptoms
Lymphangioleiomyomatosis (LAM)...I am diagnosed with Lymphangioleiomyomatosis or LAM & asthma. Looking for others that have the same thing....reactions3repliesCoping
Feeling isolated and alone with a severe rare disease...My husband and I have tried to do many things to support our daughter diagnosed with metachromatic leukodystrophy, rare terminal brain disease...reactions3repliesCaregivingCopingFriends & Family
VEXAS - In Honor of Max Gyllenskog Part 1...Here's part 1 of a series I'm working on to try to help other people understand this disease as I'm learning it...reactions1replyAwarenessTreatmentSymptoms
