MSL2 syndrome...Hi everyone, at first sorry for my english I didn't write for a long time and I live now in Germany. Our...reactions1replyDiagnosis
CMT type 4c1, hEDS, PsA, Fibro, Ichthyosis ...I wish Drs wouldn't laugh off multiple diseases. Even a dna test didn't help. " only thier clinical opinion matters, not a...reactions4repliesCopingDepressionDiagnosis
I’ve had eye muscle weakness and droopy eyelids from Myasthenia Gravis , Has anyone else experienced vision problems due to a rare......I’ve experienced vision issues linked to a rare condition — specifically eye muscle weakness and droopy eyelids, which were early signs of...reactionsrepliesSymptoms
The Diagnosis Journey: Primary Immunodeficiency (PI)...A long and difficult road may face people with primary immunodeficiency, also known as PI. It is not always easy to diagnose...reactionscomments
Patient of HHT and Mom of child with HHT...I was diagnosed with HHT (a rare blood vessel disorder) in 2023 after 4 years of searching for answers. My son was...reactions3replies
Awake but trapped...I’m awake, fully aware that I cannot move. No idea how long it will last? Will I stop breathing? Nobody home for...reactions16replies
A Nauseating combo of disorders from birth only to worsen 14 years later...So Being born with the combination of ADHD, Autism and Tourette syndrome was bad enough only to have injury after injury then...reactions10replies
lichen sclerosus ...I was having TERRIBLE itching in my genital area. i would explain my problem. they would say i must have vaginal infection...reactions1reply
Healthcare navigator specializing in rare diseases...I’m a physician-turned healthcare navigator specializing in rare diseases. Visit my website and blog at maryrodriguezmd.com...reactionsrepliesHealthcare TeamTips & AdviceNewly Diagnosed
Managing Overstimulation as a Parent...Overstimulation occurs when sensory input overwhelms an individual's ability to process and respond appropriately. For medical caregivers and families, overstimulation can be...reactionscomments
10 Year old with medical mystery...Good Day Everyone My son has been sick for about 4 months. He is seeing doctors and was in the hospital more...reactions1reply
Life with Rare Coexistence of Systemic Lupus and Ankylosis Spondylitis...Hello, I just curious to find the other 8 - 10 individuals living with the Rare Coexistence of Systemic Lupus and Ankylosis...reactionsrepliesTips & AdviceCopingDiagnosis
Anyone experience this and how do we get help??...My son and I started having symptoms a year and a half ago, started after a camping trip and we had a...reactions4repliesSymptoms
Building Your Child's DMD Care Team...Caring for a child with Duchenne muscular dystrophy (DMD), a condition that makes muscles weaker over time, will likely involve a team...reactionscomments
Aunauthorized people try to get your medical information...Hello, My deceased brother’s ex wife contacted Mayo Clinic and my brother’s attorney trying to get access to my medical records. Has...reactions1reply
Ancestral inbreeding...As a decendent of lots of inbreeding, I have many expressed recessive "rare" traits. None have proven fatal or longevity-altering (yet), but...reactionsreplies
FATTY LIVER CANCER...MY CANCER WAS MISSED ON MY XRAYS 1 1/2 YEARS AGO AND NOW I HAVE A DEATH SENTENCE IS THERE ANYTHING THAT...reactions3repliesHealthcare Team
