- Owen Clark
- Health Correspondent for Wales – BBC News
Debbie Schwartz is one of the first patients at the first national clinic for no-name syndromes in the UK
As a teenager, Debbie Schwartz was offended when doctors said all her illnesses were just fantasies in her head.
“It was soul-shattering and I felt hopeless, isolated and humiliated,” said Schwartz, a 47-year-old former teacher.
Fdebe suffers from a very rare disease, which specialists have not been able to identify – and this makes her one of the thousands of people searching for answers.
But she is now among the first patients at the first specialist clinic of its kind in the UK for patients with syndromes without a name.
Debbie spent many of her teenage years cruising across the country with her anxious parents trying to figure out what their only daughter was going through.
“I felt like I had let my parents down,” she recalls. “They took me back and forth to Newcastle and London hospitals.
And she adds, “Since I was eleven years old, and the tests and analyzes did not show any cause or cause for the disease, besides that my parents used to hear that, the idea that doctors might make mistakes is completely out of the question because they did all these tests, in addition to being doctors, they are people of knowledge in their field, so the diagnosis must be that I made up the disease.
“The burden was on me a lot and I felt pressured because of it,” she says. “I was in school and I was just a kid. It was hard.”
Debbie felt that the medical professionals were “very dismissive” of the idea that she had any disease. Then, in her late teens, her eyesight, speech, hearing and movement deteriorated.
However, this did not prevent her from completing her undergraduate studies in biochemistry in London and qualifying to become a science teacher.
photo released, Debbie Schwartz
Debbie’s parents, Susan and Anthony Schwartz, have shown their daughter to various specialists across the country in hopes of a diagnosis.
But Debbie broke up in 2000, spent 10 months in the hospital and hasn’t walked — or worked — since.
“Then it was decided I didn’t have asthma, and I started doing many different tests with different doctors,” she recalls.
“Often they get excited at first because I was a unique case and they thought it was interesting, but they lose interest when they do the tests and find that they still can’t get a diagnosis,” she says.
“Because they didn’t find anything wrong with me, so their diagnosis was that everything was psychosomatic or depression and anxiety,” she says.
“The part that was destroying the soul is just because they said I had no problem, so I didn’t go home following that and everything seemed fine, but my condition continued to deteriorate,” Schwartz explains.
“I felt like a failure – and the doctors were so intentionally insulting,” she says.
Debbie gets care from caregivers three times a day
After years of struggling, Debbie finally received a partial diagnosis in 2005 of mitochondrial disease – a group of conditions caused by defects in key parts of the body’s cells that are the energy-intensive parts of the cell.
Later she was also diagnosed with three “very rare” disorders – a neurological condition, another that affects the immune system, failing which her dystonia.
She suffers from hearing loss, poor eyesight, lacks balance, has lost feeling in her hands and under her knees and needs the help of caregivers three times a day and her life is “getting worse”.
One of the things that frustrates Debbie is that although she is convinced that her illnesses are linked, so far they are looked at separately.
Now, with the help of consultants at the first national center for non-name syndromes across Wales in the UK in Cardiff, the Swan Clinic, Debbie hopes to get closer to identifying and diagnosing her underlying condition.
This center has been prepared and equipped by specialized doctors, because Debbie is not the only one who suffers from such a rare condition.
Although these conditions are rare individually, together they can affect thousands of people.
Previously, Debbie had to rely on several specialists to treat her various medical conditions individually.
“There are different teams, a team for each case, these are supervised by specialists,” she says.
She adds: “They were not looking at the totality of my disease, (every team looks at a specific case) and not have a coherent whole. This is what this new clinic will do.”
photo released, Getty Images
The new, unnamed Syndrome Clinic is located at Cardiff University Hospital in Wales
Now, following a 35-year battle, Debbie hopes to get a comprehensive diagnosis of a disease that she believes has had a “profound impact” on her life for so long.
“Hopefully, with a multidisciplinary team of doctors looking at me as one case, they might come to the same conclusion that I have one disorder instead of all these separate disorders,” she says.
It is estimated that every year 6000 babies are born with a condition so rare that it has no name, and an estimated 350,000 people in the UK have a condition with no name.
Experts estimate that there may be more than 8,000 rare diseases and that children are disproportionately affected by 50 percent of rare diseases that affect children, and that nearly a third of them die before the age of five.
Adults and children across Wales can review the new Swan Clinic (Syndromes No Name) at Cardiff University Hospital in Wales via a referral from the hospital doctor – an estimated 150,000 people are estimated to be affected in Wales.
“Rare diseases are a major health problem that is unfortunately associated with poor outcomes,” said Dr. Graham Shortland, who is responsible for clinical cases at the new clinic.
“The impact on patients and their families is significant, as the majority of patients who actually received their diagnosis waited an average of four years,” he added.
“Diagnosis brings hope and reassurance to families, and the clinic’s goal is to shorten the diagnosis journey, improve access to specialized care, and support those waiting to know their final diagnosis,” he added.
Professor Iolo Doll says Wales is leading the way in the field 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 regarding the risks of inheriting a child for rare cases.
Medical experts in Wales said the clinic was another example of Wales being a pioneer in the field of rare diseases following it became the first British country to offer whole-genome genetic testing in critically ill children.
Professor Iolo Dole, chair of the Executive Group for Rare Diseases, said: “The Swan Clinic is the first clinic of its kind in the UK and as far as we know there is no comparable clinic in Europe.”
“The clinic is going to be a specialist centre. And you can look at Wales as either a place that’s either too small or big enough to do important things like this. And in this case, Wales is big enough to do a job like that which would probably have failed and fallen in places like this.” Others are under radar.