The defense is beat, infections hächeck and vaccinations are repeatedly ineffective. However, even Ädoctors don’t often think of an innate immune defect. Up to Stefanie H.’s diagnosis took years
Stefanie H. ill as a child again and again to serious infections. But it was not until three years ago, Ä found;doctors the cause dafür
Rare Erkrankungen
Rare diseases, due to their diversity häfrequently. A total of schä suffering in Germany;up way four million people. Every single Disease is, however, less than one out of 2000 people. In about 80 percent of the Fälle is the cause of genetic defects.
Since many Äthe disease doctors hardly know, it often takes years until the Affected get a diagnosis. There is no specific Therapien. Rare diseases are therefore as a "Orphans of the Medizin" .
Important information to be Concerned, and Angehörige axis, the Alliance of rare chronic diseases: www.achse-online.de.
In our series of reports by patients of their story. In the second part of the hereditäres Angioöthe part 3 of the disease Fabry disease is dedicated to.
To learn what they have to suffer, had to Stefanie H. break together. The young woman weighed only 42 kilos, an infection was chasing the other. Just had your dreijäold son from the Kindergarten picked up, as the cough struck again. Stefanie H. was gasping for air, spitting up blood, collapsed on the roadside. Veräscared stroked her little son to her üabout the hair. "I’m so sad, Mama", he complained quietly. "We köcan’t miteinander play. You don’t have to promise me that you’re leaving?"
That was three years ago. Stefanie H. mägirl-like face, with the impression of a short, very seriously. Still, you have to swallow, if she remembers the Moment. But it also was a turning point. The young mother dragged herself home and ließ from your ENT doctor admitted to the hospital. "They remain there until you decide what ist" with you;, he warned his langjämany years of patient and asked a friendly hospital doctor, persöphotography you to küinhibitors.
Weak immune system due to a Mutation in the genome
After two days and many tests, it was clear why Stefanie H. of viruses and bacteria &ndash is followed; and since their Childhood. She suffers from a congenital immune defect. A genetischer error führt, bacteria have an easy game. To fight off disease germs, the human Köbody a ausgeklügeltes defense system developed. However, various diseases and Medrugs köit can partially lahm. In the case of a congenital immune defect, the cause is usually an error in the genome.
"So far, about 350 mutations are known, the function of the immune system beeinträchtigen", erklärt Professor Volker Wahn, immunology expert at the Berlin Universitätsklinikum Charité. In Germany, for example, 5000 patients, the knowledge of your immune deficiency of life. "Wahrscheinsignificantly more betroffen" but;, suspected delusions. The defense is strong geschwächt, früh of first symptoms. "Children with severe combined Immundefects untreated ­ hardly;äolder than a Jahr", Wahn says.
The disease frü is;h detected, köthe most Affected may, after a transplant of bone marrow stem cells from a donor but an almost normal life führen. Infections have the Köthe body already geschwächt, the chances are significantly worse. An important success it was, therefore, that soon all newborns will be tested for the Defect, doctors delusions. In many patients, the Anfä begins;maturity but only später. For example, if you – as H. – the variables Antikörperdeficiency syndrome suffer from CVID (). The disease often remains undetected.
The administered vaccinations will not work
"Your daughter should do more sports and gesüof ernähren." Stefanie H. can’t remember how many times your parents the Ädoctors gehört have; and später, you told it your self. Here you can gesü hardly;of growing up. In her home village in Magdeburg, the Gemü comes;se from the garden, milk from the farmer next door. After school it goes out to the Elbe river for Swimming and rowing. "I’ve never lassen" wars;, erzählt Stefanie H. it has not been Easy.
Each child is even sick. But Stefanie seems to collect infections: it has a Mittelohrentzümaking, then severe cough, the Nasennebenhömiss vereitern, the cecum entzü. Again and again you have to go to the hospital. Some of the children were kränkside, says the doctor. But there was früh signs, that’s all it is. Stefanie erhält all important vaccinations. Nevertheless, you are ill with Mumps, measles, Röstuffs. As the red spots for the second Time, your Köbody übersäen, is the mother suspicious. The pediatrician reassured: Maybe a different shape, the könne occur.
After graduation and training Stefanie H. ö changes;fter the Employer – also because they are so häoften sick. In Dresden they met their zuküfuture husband. "He met me with chamomile tea and nose drops in the handbag." Most of the Ädoctors füthe young woman feels not taken seriously. One of them says to her face: "Do you know what a hypochondriac is?" She gets up and goes. However, she begins to wonder at some point, seek the advice of a psychotherapist. The infections remain.
Permanent Schäthe: It often takes years to diagnosis
As Stefanie gets pregnant, with 31 years, is the für your geschwäwant to Köthe body too much. "In pregnancy, you are Antiköthe body of the child ab", weiß you today. At the time, she didn’t know she has hardly enough to keep herself healthy. After the birth you will not come again on the legs. Hörstücoming soon and Paukenergüsse, dental problems, Lungenentzündungen – until you schließon the Straße breaks down and a clinic doctor takes you seriously. For two hours he talks to her, asks for Lebensumstä, family history, diseases. Quickly the doctor has a suspicion that soon bestäneeded. Stefanie H. picks up the phone and call your mother. "Mama, we have nothing &ndash forms; and you did everything right gemacht", she says relieved.
But why the diagnosis came as spät? As Stefanie H. was pregnant, wondered a Frauenärztin, that in the blood hardly Antiköbody against Röto find stuffs were – despite vaccination and multiple disease. Another Test is not followed. Once " even on the laboratory findings: ;Immunoglobulins prüfen. Suspected immunodeficiency." Nothing happened. Had Stefanie H. just bad luck? "Unfortunately, höyou rt such stories always wieder", expert delusion says Immune. If the defense schwäsmiles, many to Pülverchen and vitamin pills. Also Ädoctors don’t often think of a disease.
A frü is;Hey diagnosis üintoxicated is important. "The infections are not only lästig, you leave Schäden", so delusional. Also at the Stefanie H. how strong is your Kö showed up in the clinic, ;the body had already suffered. A lung fungus had taken root, Tuberkulosepathogens, intestinal parasites. Bronchi and Stimmbägoods irreversible geschädamaged, the spleen was four times vergrößert. Nevertheless, schöknocked the young woman back soon hope. Antibiotics helped, your Köto rid the body of germs.
Über infusions füStefanie H. Antikö hrt;body to
In addition, you got Infusions, which contain what your Köbody only bad Antikö can produce: ;body. They originate from the blood plasma of donors. Stefanie H. decided für a Präof Europe, you can be at home under the skin to administer. On Sundays, if in the television of the "Tatort" läuft, all three weeks of the infusion needles. The therapies to beat. After a year it went so well, that she was ready, once again, a risk einzugo. She is second Time pregnant and bring a healthy Mägirl to the world.
Still need to Stefanie H. in front of agents hüth. In the Winter träyou gt a Mouth guard, her son with Reißzästand up painted. "The people look in wonder in the Tram, then sie" laugh;, erzäyou hlt. Stäconstant companion is a disinfectant and rubber gloves &ndash are; für the case that, for example, in the nursery an infection handle.
If Stefanie H. goes for a walk at the Elbe river, seems to be the hard time, as her disease prevailed almost hätte, but far away. On your Rücover schläft of your little daughter, wäwhile your son is with his father, skateboarding übt. Since may träStefanie gt a new Ring on your Finger – it is a wedding ring. "Wäre the disease has not been detected, who weiß, if I was still there wäre."
These warning signs of an immune defect think
Ill a Patient several times in the year at a Lungenentzümaking, you should test on an immune defect. Notes are also häufige infections of the middle ear, Nasennebenhöselect, internal organs, recurrent Abscesses, severe Verläufe harmless infections as well as Rückfälle after antibiotic therapy.
In Säuglingen often occur Gedeihstöretention and chronic Durchfälle, also Hautrösightings and hartnästorey fungal infections.
Attention should also be, if vaccination has not hitting or Lebendvaccinations for the disease by the vaccine.
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