Health: “My disease is very rare and has no name”.

Debbie spent much of her teenage years touring the country with her anxious parents trying to figure out what their only daughter was going through.

“I felt like I let my parents down,” she recalls. “They took me back and forth to the Newcastle and London hospitals.

He adds: “Since I was eleven, and tests and analyzes showed no cause or cause for the disease, other than my parents feeling it, the idea that doctors could be wrong is completely out of the question because they did. all these tests, besides being medical, are people of knowledge in their field, so the diagnosis must be that I invented the disease.

“The burden was a lot on me and I felt pressured for it,” she says. “I was in school and I was just a little girl. It was difficult.”

Debbie felt that medical professionals were “very dismissive” about the idea that she had some disease. Then, in late adolescence, sight, speech, hearing and movement deteriorated.

However, this did not stop her from completing her undergraduate studies in biochemistry in London and qualifying to become a science teacher.

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

“Then it was decided that I didn’t have asthma and I started doing a lot of different tests with different doctors,” she recalls.

“They often get excited at first because I was a unique case and they thought it was interesting, but they lose interest when they get tested and find 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 soul destroying is just because they said I had no problems, so I didn’t come home and everything seemed fine, but my condition continued to deteriorate,” explains Schwartz.

“I felt like a failure – and the doctors were so intentionally insulting,” he says.

After years of struggle, 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 affecting the immune system, failing which her dystonia.

He suffers from hearing loss, vision problems, lack of balance, has lost sensitivity in his hands and under the knees and needs the help of those who take care of them three times a day and his life is “getting worse” .

One of the things that frustrates Debbie is that although she believes her illnesses are related, they are so far examined separately.

Now, with the help of consultants from the first national center for unnamed 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 suffering 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 individually treat her various medical conditions.

“There are several teams, one team for each case, these are supervised by specialists,” he says.

He adds: “They weren’t looking at the entirety of my disease (each team looks at a specific case) and they don’t have a coherent whole. That’s what this new clinic will do.”

Now, after a 35-year battle, Debbie hopes to get a full diagnosis of a disease she believes has had a “profound impact” on her life for so long.

“Hopefully, with a multidisciplinary team of doctors looking at me as a case, they can come to the same conclusion that I have one disorder instead of all these separate disorders,” he says.

It is estimated that every year 6,000 babies are born with a condition so rare that it has no name and around 350,000 people in the UK have the condition without a name.

Experts estimate that there could 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 age five.

Adults and children across Wales can examine the new Swan Clinic (Syndromes No Name) at Cardiff University Hospital in Wales via a referral to the hospital doctor – an estimated 150,000 people are affected in Wales.

“Rare diseases are a serious health problem that is sadly associated with poor outcomes,” said Dr Graham Shortland, clinical case manager at the new clinic.

“The impact on patients and their families is significant, as most patients who actually received the diagnosis waited an average of four years,” he added.

“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 are waiting to know the final diagnosis,” he added.

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 inheriting a child for rare cases.

Medical experts in Wales said the clinic was another example of Wales pioneering rare diseases after becoming the first UK country to offer whole genome genetic testing in critically ill children.

Professor Iolo Dole, President 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 will become a specialized center. And you can look at Wales as a place too small or big enough to do important things like this. And in this case, Wales is big enough to do such a job that probably would have failed and it would fall in places like this. ” Others are under the radar.