Women’s disease is so rare that it has no name

Debbie is one of the UK’s first national first syndromes patients without a clinic for the name

As a teenager, Debbie Schwartz felt humiliated when doctors said her illnesses were all in her head.

“It was a destruction to the soul,” said the 47-year-old former teacher. “I felt hopeless, isolated and humiliated.”

Debbie has such a rare disease that experts have not been able to identify it – and she is among thousands of people looking for answers.

It is now among the first in the UK’s first specialist clinic of its kind for patients with unnamed syndromes.

Debbie spent much of her teenage years getting carried around the country by her worried parents who were trying to figure out what was wrong with their only daughter.

“I felt like I was letting my parents down,” she recalled. “They were dragging me back and forth to Newcastle and London hospitals.

“Since an 11 year old was told that the tests show nothing and that your parents are hearing it, there are no thoughts that the doctors are wrong because they did all these tests, they are the doctors, they are. they know. So the diagnosis must be that I made it up.

“The burden was a lot on me and I felt under pressure. I was in school and just a kid. It was difficult.”

Debbie felt the medical experts were “very dismissive” and then, in her late teens, her sight, speech, hearing and mobility all deteriorated.

Debbie Schwartz's parents Suzanne and Anthony

Debbie’s parents Suzanne and Anthony Schwartz took their daughter around the country to various specialists, hoping for a diagnosis.

This did not stop her, however, from completing a biochemistry degree in London and qualifying to become a science teacher.

But Debbie collapsed in 2000, spent 10 months in the hospital, and hasn’t walked or worked since.

“Then it was decided it wasn’t asthma and I started doing a lot of different tests with different doctors,” she recalled.

“They would have started excited because I was a unique case and thought it was interesting, but they lost interest when they took the tests and still couldn’t find a diagnosis.

“They didn’t find much wrong, so you attribute it all to being psychosomatic or to depression and anxiety.

“The part that destroyed the soul was just because they said there was nothing wrong, I didn’t come home and everything was fine … I continued to deteriorate.

“I felt like a failure – and the doctors were pretty humiliating.”

Debbie Schwartz

Debbie has carers three times a day in the caretaker-controlled apartment she shares with dog Ellie and cat Neil

After years of fighting, Debbie finally got a partial diagnosis in 2005 of mitochondrial disease, a group of conditions caused by defects in key parts of the body’s cells.

She was subsequently diagnosed with three other “very rare disorders”: a neurological condition, another affecting her dystonia with movement disorders and immunology.

He has hearing loss, is visually impaired, has difficulty with his balance and has no sensitivity in his hands and under the knees and needs the help of those who take care of him three times a day and his quality of life is “getting worse”.

One of the things that frustrates Debbie the most is that although she is convinced that her condition is connected, they have so far been looked at in isolation.

Now, with the help of consultants from the first national syndromes from all over Wales in the UK without a clinic name in her hometown of Cardiff, Debbie hopes she can get close to identifying what her underlying condition might be.

It was created by specialists because Debbie is not alone in having such a rare condition.

University Hospital of Wales

The new clinical unnamed syndromes at Cardiff University Hospital of Wales are accessible to any patient in Wales

Although individually these conditions are very rare, all together they can affect thousands of people.

Previously Debbie had to rely on several specialists to manage her various conditions.

“But they are different teams that remain within their specialty,” he said.

“They don’t look at me as a whole person and my symptoms as a whole, which is what this new clinic will do.”

Now, after a 35-year battle, he hopes to get the only general diagnosis he believes has had a “profound effect” on his life for so long.

“I hope that with a team of multidisciplinary doctors looking at me as one, they could come to the conclusion that it is a disorder instead of all of these separate.”

It is estimated that 6,000 babies are born each year with a disease so rare it doesn’t have a name – around 350,000 people in the UK.

Experts estimate that there could be more than 8,000 rare diseases and that children are disproportionately affected by 50% of rare diseases that affect children – and nearly a third of them will die before the age of five.

The new SWAN (unnamed syndromes) clinic at the University Hospital of Wales in Cardiff is accessible to adults and children across Wales through a referral by a hospital doctor, with approximately 150,000 people in Wales affected.

“Rare diseases are a significant health problem that is sadly associated with poor outcomes,” said Dr Graham Shortland, clinical director of the new clinic.

“The impact on patients and their families is considerable, with most patients receiving 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 path, improve access to specialist care and support those who continue to wait for a diagnosis.”

Prof Iolo Doull

Professor Iolo Doull says Wales is at the forefront of rare diseases

Since many of these diseases often have a genetic cause, it is hoped that the clinic will also be able to advise families on the risks of a child inheriting rare diseases.

Medical experts in Wales said the clinic is another example of Wales at the forefront of rare diseases after becoming the first nation in the UK to offer genome-wide genetic testing to very sick children.

“The SWAN Clinic is the first commissioned clinic of its type in the UK and as far as we know there are no others in Europe,” said Professor Iolo Doull, President of the Rare Diseases Implementation Group.

“It will be a one stop shop. You can look at Wales as a very small place or big enough to do important things. In this case Wales was big enough to do this that perhaps in other places it would have fallen under radar control.”

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