'Illness so rare, doesn't have a name': UK woman opens up about her mystery illness, says she felt "hopeless, isolated and humiliated"

47-year-old UK woman Debbie Shwartz has been living with a rare illness that up until now has not been identified by medical experts and does not have a name. The mystery illness has restricted her to a wheelchair and has impacted her whole life. She was continuously told that her illnesses were all in her head and that there was nothing wrong with her. But over time, she started experiencing symptoms and complications that could not be overlooked.

Despite her rare condition, Shwartz has a biochemistry degree and is qualified to become a teacher. However, she could not continue, given her illness.

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It all began when Debbie Shwartz was just a little child. She developed a wide array of symptoms, to which doctors had no answers. They couldn't identify the source of her ailments, which is why, during her adolescence, she had to visit several doctors and hospitals just to get a diagnosis for her condition.

In an interview with the BBC, she said: “I felt like I was letting my parents down.

"They were traipsing me around back and forth to hospitals in Newcastle and London.

"As an 11-year-old being told the tests aren't showing anything and your parents are hearing that, there's no thought the doctors are wrong because they've done all these tests, they are the doctors, they know.”

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Given that doctors and medical experts could not identify the source of her disease, they were 'very dismissive', as per the 47-year-old former teacher.

She said, "So the diagnosis must be that I've made it up. The onus was very much on me and I felt pressured by that. I was in school and just a child. It was difficult."

"It was soul destroying. I felt hopeless, isolated and humiliated," she adds.

In 2000, Debbie collapsed and spent 10 months in hospital. She has not walked or worked ever since.

"It was then decided it wasn't asthma and I started having a lot of different tests with different doctors," she said.

"They would start off excited because I was a unique case and thought it was interesting but they'd lose interest when they did the tests and they still couldn't come to a diagnosis.

"They didn't find much wrong so put everything down to being psychosomatic or depression and anxiety.

"The soul destroying part was just because they said there was nothing wrong, I didn't go home and everything became good... I kept deteriorating.

"I felt like a failure - and the doctors were quite humiliating," she adds.

After having battled the illness for years, she was partially diagnosed in 2005 with mitochondrial disease, a group of conditions caused by defects in key parts of the body's cells, reports the BBC.

Over time, she was diagnosed with three more "very rare disorders" - a neurological condition, another affecting her immunology and movement disorder dystonia.

From hearing loss, sight loss to difficulty with balance and lack of feelings in her hands and knees, she had experienced multiple symptoms.

According to Debbie, what was most frustrating was that even though she believes that her conditions are linked, medical experts have been treating it in isolation, meaning separately.

But there is a ray of hope with the opening of the UK’s first clinic for people with syndromes without a name.

With this new initiative, Debbie hopes to get a diagnosis for her condition and treatment to improve her quality of life which she says is getting worse.

"I'm hoping that with a team of multidisciplinary doctors looking at me as one, they might come to one conclusion that it is one disorder instead of all of these separate ones," she said.

SWAN - Syndromes Without A Name, is the new clinic, based at Cardiff University’s Hospital of Wales.

Clinical lead at the new clinic Dr Graham Shortland said: “Rare diseases are a significant health problem that are unfortunately associated with poor outcomes.

"The impact on patients and their families is considerable, with the majority of patients who do receive a diagnosis waiting an average of four years.

"A diagnosis brings hope and reassurance to families and the goal of the clinic is to shorten the diagnostic journey, improve access to specialist care and support those who continue to await a diagnosis.”

It has been estimated that around 6,000 babies are born every year with an illness without a name. Furthermore, 350,000 people in the UK with unnamed conditions such as Debbie’s.

In addition, experts believe that there could be over 8,000 rare diseases and that children make up 50 percent of the patient cohort. Shockingly, around a third of these patients die before the age of five.