She has suffered since her childhood. Debbie Schwartz has a condition so rare it doesn’t yet have a name. A case so unique that she usually passed for a liar when she mentioned her symptoms. “As an 11-year-old kid, being told the tests don’t show anything, there’s no reason for the doctors to be wrong because they’ve done all these tests, it’s the doctors, They know it. The diagnosis must be that I made it up. It was destructive. I was desperate and isolated. I felt humiliated,” she told our BBC colleagues.

Growing up, Debbie developed breathing problems, neurological and immune disorders as well as dystonia, a movement disorder. Her eyesight, speech, hearing and mobility began to deteriorate in her late teens. The Briton went back and forth to the hospital, in vain. Doctors struggled to make a diagnosis. At the time, doctors thought his symptoms were psychosomatic or related to depression and anxiety. The forties felt “like a failure” at this time. But these many difficulties did not prevent her from obtaining her diploma to become a teacher.

She remains hopeful despite the disease

In 2005, Debbie finally got a partial diagnosis. She suffers from a rare mitochondrial disease. This leads to a deficit of the respiratory system and can cause DNA mutation. Today, the Briton is followed by several specialists at the University Hospital in Cardiff, Wales. This clinic, dedicated to rare and nameless pathologies, treats thousands of people whose cause of ailments is still unknown. The 40-year-old is still waiting for answers to her questions: “I hope this team of multidisciplinary doctors can come to the conclusion that this is one disorder instead of all these separate disorders.”

TESTIMONY My disease is so rare that it has no name


Maria T.
Maria T.

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