UK: His disease is so rare it has no name

Debbie Schwartz, a 47-year-old Briton, suffers from a condition so rare it doesn’t yet have a name.

She experienced the “humiliation” of not being taken seriously. Debbie Schwartz suffers from a condition so rare it doesn’t yet have a name. A rarity that made this 47-year-old British teacher look like a storyteller in the eyes of the world before a diagnosis was finally made.

Many symptoms

To our colleagues at the BBC, Debbie Schwartz shared her story of her battle with her illness. Numerous and varied symptoms have confounded all attempts at diagnosis for years. Including breathing problems as well as several other neurological and immune disorders, but also dystonia, which is a movement disorder.

The disease started in her childhood and then progressed into adolescence, forcing her to scour hospitals across the country. Faced with the complexity of her case, doctors have always struggled to establish a coherent diagnosis, and even Debbie’s parents have begun to no longer believe in their only daughter.

“Like an 11-year-old kid being told that the tests don’t show anything, there’s no reason for the doctors to be wrong because they’ve done all these tests, the doctors are the ones who know. The diagnosis has to be, that I made it up,” testified the teacher.

In her late teens, Debbie began to develop more noticeable symptoms. She had become almost deaf, struggled to speak normally and her mobility was severely impaired. Despite these difficulties, she managed to pass her diplomas and became a teacher.

In the meantime, she nevertheless made the decision to have new health examinations done, which ended up confirming that she was suffering from a real and, above all, new illness.

A rare mitochondrial disease

“The doctors started to get excited because I was a unique case and thought it was interesting, but they lost interest when they did the tests and they still couldn’t come up with a diagnosis.” Debbie who says she “felt like a failure” at this point in her life.

It was therefore only in 2005 that the first diagnosis could be made. She suffers from a rare mitochondrial disease. Mitochondrial diseases are a diverse set of diseases that affect the respiratory system and can lead to DNA mutation. Some of them are the cause of better known diseases such as Alzheimer’s or Parkinson’s.

In the end, although Debbie’s symptoms were diagnosed and tracked, the cause was still not discovered.

Debbie Schwartz is now followed by specialists in “diseases without a name”, in the syndrome clinic in Cardiff (Wales), her hometown. This clinic dedicated to rare diseases treats and supports thousands of patients whose rarity does not allow them to be named.

“I hope that with a team of multidisciplinary doctors who see me as one, they could come to the conclusion that this is one disorder instead of all these separate disorders,” said Debbie, who is awaiting a final diagnosis of the cause for all. his sufferings.

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