Active todayHurler 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 stop crying. I feel so sorry for my...reactionsrepliesCoping
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 stomach gurgling, then left eyelid spasms and closes...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 and gradual loss of peripheral sight, sometimes progressing...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 even the Cleveland clinic, which he has visited...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 on everyday life. This strain can extend to...reactionscomments
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 below!...reactionsrepliesCoping
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 Addison's since he was 5 and is about...reactionsrepliesSurgeryTips & Advice
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 sub-acute home health nurse. The diagnosis? A sudden...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 normal range. The exact cause isn’t fully understood...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 retina in incredible detail. They can detect microscopic...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 test negative MRI also negative. Please help me...reactions1reply
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. It causes the gradual breakdown and loss of...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 3.5 years ago. Since she has become very...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, in an easier way. I hope you will...reactions1replyAwarenessTreatmentSymptoms
VEXAS - In Honor of Max Gyllenskog Intro...VEXAS Syndrome: Spread the Word When Max Gyllenskog first began experiencing significant health issues, the puzzling array of symptoms left everyone baffled. It started with a blood clot in his...reactionsrepliesAwarenessDiagnosisResearch & Clinical Trials
Weird disorder that is causing a lot of pain and discomfort...I need help looking for a place to start researching whatever medical condition that has me bedridden almost all day and night. For some reason I experience varying amounts of...reactions1reply
