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Normal or rare? – Medicine and Health, Medical Specialists and Wellness

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Normal or rare?  – Medicine and Health, Medical Specialists and Wellness

Observe children’s diseases sensitively

Photo: stock.adobe.com Africa Studio (No. 9297) (Image source: Photo: stock.adobe.com Africa Studio)

sup.- Children’s diseases are the most normal thing in the world. The name is characteristic. Most people contract it as a child because they are usually highly contagious. The classic diseases are measles, mumps, rubella or chickenpox, against which vaccinations can and should be given. Such infectious diseases usually lead to lifelong immunity. A positive effect.

They can be remedied quickly with tried-and-tested home remedies or light medication. They should not be taken lightly, even if the term “teething” suggests it. Adults can also contract these infections, which then often take a severe course.

Developmental disorders that become apparent in infants or young children are something completely different. Parents are the first and also important diagnosticians for such developmental disorders. They have expectations of the natural development of their children and compare their offspring with other children of the same age. Of course, every child develops individually. There is no standard. The eleven check-ups from birth to the age of 18 are also an important help. These must be used. In this way, not only physical, but also psychological problems should be recognized and treated early on.

Despite all precautions, there are rare cases of diseases that are overlooked. When parents have a strong feeling that something is wrong with their child, they should persevere. Your feeling is an important indicator for discussions with the doctor and, in the case of unsatisfactory diagnoses, for a change of doctor. The so-called rare diseases, which in some cases can lead to lifelong suffering, often show their first symptoms in the form of childhood illnesses. These can often be recurring colds or middle ear infections. Respiratory tract infections that keep recurring despite treatment should not be dismissed with a slogan like “It’s all right”. In such cases, caring parents are not overly sensitive or hysterical, but responsible. The parents should then see themselves as the doctor’s coaches in order to arrive at a reliable diagnosis and treatment as early as possible.

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A crucial problem with rare diseases is that the path to diagnosis is often very long. On average, it is only given after around five years. This period can be reduced with the perseverance of the parents in order to arrive at an earlier effective treatment. Parents should also have the courage to talk to the doctor about special examinations that deviate from the conventional ways. Since genetic defects are often the cause of rare diseases, diagnostic genetic testing should be considered, which can confirm the clinical suspicion.

In the case of hearing loss in small children, frequently recurring infections or insecurities in movement, a defective gene can be the cause, which leads to the lack of a necessary metabolic enzyme. In such cases, a certain type of sugar accumulates in the cells and leads to functional disorders. With the right diagnosis and enzyme replacement therapy, this rare disease can be treated effectively.

The doctor can see the symptoms visually, but not the genetic problems. Parents who are unhappy with what they consider to be an inadequate diagnosis should persevere and take action. A responsible doctor sees the parents as valuable partners in the diagnosis. He will then be convinced by a genetic test on the child.

Parents who want to find out more and who are looking for arguments can find support on the websites of competent support organisations. These are websites from ACHSE, MPS-Germany and the national action alliance NAMSE.

Image Source: Photo: stock.adobe.com Africa Studio

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Editor Detlef Brendel

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Detlef Brendel
Graf-Adolf-Strasse 41
40210 Düsseldorf
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