As a teenager, Debbie Schwartz felt humiliated as doctors said her illnesses were all in her head.
“It was soul destroying,” said the 47-year-old former teacher. “I felt hopeless, isolated and humiliated.”
Debbie has an illness so rare, experts have not been able to identify it – and she is among thousands of people looking for answers.
Now, she is among the first at the UK’s first specialist clinic of its type for patients with syndromes without a name.
Debbie spent many of her teenage years being taken the length and breadth of 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 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 thoughts the doctors are wrong because they’ve done all these tests, they are the doctors, they know. 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.”
Debbie felt the medical experts had been “very dismissive” and then, in her late teens, her eyesight, speech, hearing and mobility deteriorated.
It did not stop her, however, completing a biochemistry degree in London and qualifying to become a science teacher.
But Debbie collapsed in 2000, spent 10 months in hospital and has not walked – or worked – since.
“It was then decided it wasn’t asthma and I started having a lot of different tests with different doctors,” she recalled.
“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.”
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.
Subsequently she has also been diagnosed with three more “very rare disorders” – a neurological condition, another affecting her immunology and movement disorder dystonia.
She has hearing loss, is partially sighted, struggled with balance and has no feeling in her hands and below her knees and needs the help of carers three times a day and her quality of life is “getting worse.”
One of the things that frustrates Debbie most is although she is convinced her conditions are linked, until now they have been looked at in isolation.
Now, with the help of consultants at the UK’s first national all-Wales syndromes without a name clinic in her home city of Cardiff, Debbie hopes can get closer to identifying what her underlying condition might be.
It has been set up by specialists because Debbie is not alone in having such a rare condition.
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’re different teams that stick within their specialty,” she 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, she is hoping she will get the one overall diagnosis that she believes has had a “profound effect” on her life for so long.
“I’m hoping that with a team of multi-disciplinary doctors looking at me as one, they might come to one conclusion that it is one disorder instead of all of these separate ones.”
It is estimated that 6,000 babies are born every year with an illness so rare it does not have a name – an estimated 350,000 people in the UK.
Experts estimate there could be more than 8,000 rare diseases and children are disproportionally affected with 50% of rare diseases affecting children – and almost a third of them will die before the age of five.
The new SWAN (syndromes without a name) clinic at Cardiff’s University Hospital of Wales can be accessed by adults and children across Wales through a referral by a hospital doctor – with an estimated 150,000 people in Wales affected.
“Rare diseases are a significant health problem that are unfortunately associated with poor outcomes,” said Dr. Graham Shortland, clinical lead for the new clinic.
“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 hopes 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.”
As many of these diseases often have a genetic cause, it is hoped the clinic will also be able to give advice to families about the risks of a child inheriting rare conditions.
Medical experts in Wales said the clinic is another example of Wales leading the way in the field of rare illnesses after becoming the first UK nation to offer whole genome genetic tests to very ill children.
“The SWAN clinic is the first commissioned clinic of its type in the UK and as far as we’re aware there are no others in Europe,” said Prof Iolo Doull, chairman of the Rare Diseases Implementation Group.
“It’ll be a one stop shop. You can look at Wales as being either very small place or big enough to do important things. In this case Wales has been big enough to do this which perhaps in other places would have fallen under the radar.”