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Skin diseases, genetic defects People with rare diseases usually suffer greatly
Sometimes it is a skin disease or even a genetic defect: More and more often become known diseases in which not a few - often only a handful - people suffer. For many of the affected patients, the first symptoms are accompanied by the beginning of a veritable medical and treatment odyssey.
Rare diseases are often not so rare
According to the European definition, a disease is considered rare if it affects less than five out of every 10,000 people. In Germany alone, around four million people suffer from one of the approximately 6,000 rare diseases that have so far had a name. Across Europe, 30 million patients are affected. Rare diseases are therefore often not so rare. Because there is a lack of specialists and often effective therapies, the diagnosis is often difficult and lengthy. Promising here is an innovation that was introduced a few years ago at the "Frankfurt Reference Center for Rare Diseases" (FRZSE). There, young medical students look for the diagnosis of rare diseases. They often recognize these better than older, more experienced physicians.
Rare diseases often associated with much suffering. Image: Stokkete - fotolia Long way to the diagnosis
It is also welcome that a new center for rare diseases is opened again and again at clinics. On the website "seatlas.de" you can find care facilities for people with rare diseases. But despite all the improvements, it takes an average of seven years, according to experts, until a patient gets the right diagnosis. The research is expensive and not very lucrative for the pharmaceutical industry. In addition, the majority of the "rare" according to experts incurable. Many are life-threatening and chronic. In a message from the news agency dpa the day of rare diseases on the fate of individual sufferers is reported.
One of five worldwide known cases
When Florian was born, the sisters hugged the healthy boy of mother Hannelore Rüsch. It quickly became clear that the latecomer of the family was slightly different from their siblings. He initially moved relatively little and later began to speak. The family did not worry though. "We thought Florian was a late bloomer." It was not until years later that an extremely rare genetic defect was the cause of his delayed development. The family only noticed the rare illness of Florian because the gap between him and his peers was getting bigger and they had him tested. First it was said the boy had a mental disability, then experts of the Frankfurt University Hospital so-called partial trisomy 7 as the cause. According to the then findings Florian is one of five known cases worldwide, said the mother. "We could not believe it." But the diagnosis also relieved her: "It was clear then that we were not to blame." In the past, she had been worried that her favorite child might have been harmed in the womb.
To rely on help for a lifetime
Also, Concetta Tatti was born as a completely healthy baby. The girl's life changed abruptly at the age of three. "My legs felt like someone had tied my feet under my feet," the 40-year-old said. She did not want to run, did not fall asleep, her body ached, she had a fever and glowing patches on her face. According to various studies, the doctors diagnosed Juvenile Dermatomyositis, an inflammatory disease of the skin and muscles, in which the immune system fights the body. As Hannelore Rüsch explained according to dpa, you can not see the now 13-year-old Florian his illness today. The boy visits a special school, mentally as far as a first grader. The kindergarten friends are now teenagers.
The hospital had told the family that Florian would need a lifetime of help. "We were always alone," said the mother. But she does not look bitter and calls her son laughing as a "surprise package". In the meantime, he has found children with Down syndrome as friends. "Grown up in the children's hospital"
People who are dealing with patients who suffer from rare diseases report that those affected often feel lost. Constantly researched online, both after other victims as well as treatment options. While Hannelore Rüsch has bundled her experiences in a book, Concetta Tatti founded a self-help group in Munich. She was tired of being controlled by others. According to the press agency, she still suffers from the trauma caused by the onset of the disease, which made her "in need of care" overnight. "I grew up in the children's hospital." Tatti described painful farewells from the mother, the loneliness in the clinic and incomprehension about what happens to her own body.
A psychosomatic cause is quickly assumed
If complaints about patients remain unclear over the long term, they often turn from an expert to an expert. "Out of ignorance then diagnoses are often attributed, but do not grasp the present disease," said Christine Mundlos, who advises physicians and therapists at the Charité for the self-help network axis e.V. "Doctors can not and must not know all illnesses, should admit this ignorance but also once. And then act in the interests of the patient, "says the expert. With an unclear diagnosis, a psychosomatic cause is quickly assumed, which further increases the suffering pressure.
"In 90 percent of the cases, it's not doctors, but patients who call, email or come to us", explained Prof. Annette Grüters-Kieslich from the Berlin Center for Rare Diseases of the Charité, founded in 2011. In particular, in children and adolescents with unclear symptoms sometimes an innovative diagnostics is needed to make a diagnosis. Adults, however, often did not feel well understood by their doctors, said Grüters-Kieslich. "Meeting them, even if they are not in a rare disease center, is a big challenge."
As a 40-year-old in the body of a nine-year-old child
Also Concetta Tatti knows problems with doctors only too well. She often feels like "the particularly difficult and elaborate case", for which no one feels responsible in the long run. With 1.46 meters and 28 kilograms, the 40-year-old was "caught in the body of a 9-year-old child". Adult medicine has little experience with cases like hers, because sufferers usually have not reached their age. Tatti also fears being admitted to an adult-centered clinic in an emergency. This could be life-threatening because her thin arms and legs rely on child-sized medical instruments.
Tatti, however, is happy to finally be able to decide about her life again. In the meantime, she has her professional Abi, a training as a media designer and the driver's license. A total of 15 assistants take care of them in layers - organized by herself. (Ad)