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Unknown Illness - Side pain & Snycope

For the past few years I have seen multiple specialists and had many tests. Physical - Female, white, 32yo, 200 lbs. Historical symptoms: Ongoing: Low blood pressure, bradycardia (normal resting...

Pola1 gene variation

Hello, I would like to connect with a family who has a child with POLA 1 gene variation, specifically Van Esch-O'Driscoll Syndrome, my son has this variation....

METHEMOGLOBINEMIA: AN UNCOMMON HEMOGLOBIN DISORDER"

METHEMOGLOBINEMIA DEFINITION Methemoglobinemia is a blood disorder where an unusual quantity of methemoglobin is generated. Methemoglobin is a formation of hemoglobin in which the iron in the heme group is...

Colonoscopy to rule out Mast Cell Activation Syndrome...

What exactly are they trying to find out from the results of Colonoscopy?...

Patient with strange symptoms

I have a patient who has severe pain in her ear that extends down to the inside of her mouth and causes burning and what seems like nerve pain. She...

Living With Adult-onset Still's Disease?

Has anyone been diagnosed with adult-onset Still's disease? What was your diagnosis experience like? How do you manage life with AOSD?...

what are some tips for managing rar disease?

Early Diagnosis: First and foremost, it's crucial to get a proper diagnosis as early as possible. Due to the rarity of the disease, it might take longer than usual. Consulting...

SMS

Does anyone on here have Smith-Magenis syndrome or have family members with it?...

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