Path to

Diagnosis

Path to Diagnosis

Prenatal diagnostics are part of the standard Diagnostics are standard examinations during pregnancy and help to determine helps to determine whether or not certain diseases are present in the unborn child or not. Pregnant women are informed by their gynecologist about all the Gynecologist about all the possibilities of prenatal diagnostics, but they are free to decide whether and which of these they wish to make use of they wish to make use of. Certain rare diseases can be detected here, but most cannot.

After birth, newborn screening can be performed at the hospital without can be carried out in the hospital after birth, without the need for a Disease must already exist. This screening includes special examinations for Newborns for the early diagnosis of certain rare diseases. Thus diseases can be detected just a few days after birth and treated accordingly treated accordingly. For this purpose, blood is taken from infants shortly after birth and examined is taken from infants shortly after birth and tested in the laboratory for certain diseases. Participation in the screening is voluntary and requires the consent of the parents.

In many cases, symptoms of a rare disease do not appear until the affected when the affected children are already several months or even years old years old. So the first step on the way to a diagnosis is usually to see your pediatrician Pediatrician. This is when you notice that something is "different" in your child is "different" in your child. At the beginning there is usually a the cause of which is not (yet) known. For example developmental disorders, organ-specific changes, but also very inconspicuous inconspicuous features can provide a first suspicion of a rare disease disease. Even if it is often not clear at this level which rare disease it is disease, pediatricians can nevertheless document the initial findings Document initial findings. In addition, they help to refer to the right specialist as the next point of Specialists as the next point of contact for further clarification. On the way to Diagnosis or also in relation to the treatment of the affected children, pediatricians can Pediatricians can also take on different roles, as: Medical accompaniment the family, coordinating between the various specialists, hospitals and therapists, Hospitals and therapists, and, if necessary, also as a supporter in the Application for insurance benefits from IV and/or health insurance Health insurance.

The selection of specialists is made by pediatricians based on their assessment of your child's symptoms and on the initial initial findings. At this level, explanations for the symptoms are Which sometimes require very different specialists (e.g. developmental pediatricians) (e.g. developmental pediatricians, neuropediatricians, pediatric cardiologists, etc.) etc.). For example, if the cause is suspected to be cardiac, you will be referred to the pediatric cardiology. They will take care of it (just like all the other other specialists in their field) will then take further steps to clarify the situation and in particular the organ-specific diagnosis. The specialists have specialist knowledge and are strongly networked in order to exchange information with other specialists exchange information with other specialists. Of course it is possible that that the specialists recommended by the pediatricians do not reach a diagnosis diagnosis. However, they can refer you to other specialists and/or geneticists and/or to geneticists. Often, additional tests are needed to make a Additional examination methods are needed to make a reliable diagnosis. In this context genetic tests are becoming increasingly important.

Geneticists either confirm a suspected disease through genetic testing or genetic testing, or they bring another perspective to the diagnosis, one that Perspective on the path to diagnosis, looking at the child holistically on a genetic level genetic level. Finding a diagnosis is sometimes easy, but more often it is very also very difficult, since each person has tens of genetic variants. So that a genetic examination does not amount to a blind flight, it helps to know whether certain diseases are already present in the family or not. The The exact organ findings and, if necessary, special observations of the treating observations of the treating physicians are very important. The genetic laboratory tests usually take the form of a blood test. By means of the genetic tests a diagnosis can be made in 50 to 60 percent of cases. In the rest of the Cases, the diagnosis is not made. This can be explained on the one hand by the fact that reasons are that of the 22,000 disease genes, only about 4,500 are currently known or that known or because the disease-causing gene is already known, but not its mutation type (e.g., its mutation type), but not its mutation type (e.g., because the currently available technology does not does not recognize it). In both cases, it may be worthwhile to repeat the genetic Genetic testing after a few years, since hundreds of new disease genes are Disease genes are identified each year. Before these years have elapsed, it may it may also be worthwhile to visit a center for rare diseases center.

The term "Center for Rare Diseases" creates the impression many parents the impression that this center is the first point of contact on the on the path to diagnosis. However, this is not common and is not recommended by And is not recommended by specialists. Thus the visit of such a center is "only" the last on the way to a last on the way to clarifying the diagnosis Diagnosis. The reason for this is that the involvement of pediatricians, specialists and Pediatricians, specialists and geneticists, a disease can be diagnosed if necessary can be diagnosed. The Center for Rare Diseases only becomes important when even the geneticists geneticists are unable to make a diagnosis (in 40-50% of cases) and your child's Disease of your child cannot be assigned to a specific specialty. If case, the geneticists themselves will usually consult a center for rare diseases for rare diseases. In this center, all the different specialists and geneticists will be brought together to make further clarifications to make further clarifications. The advantage of such a center is is that specialists from different disciplines can come together and develop their and develop their expertise at a single location. You can be sure that parents, if you are not satisfied with the clarifications/measures taken by the pediatricians and Specialists regarding your child, you can contact a center for rare diseases directly Center for rare diseases. Otherwise, however, you can trust that that the first steps on the way to diagnosis are the recommended ones.

Often when you parents ask yourselves questions in everyday life, you are on your on your own. You fight your way through the Internet and don't always find what you're you are looking for or need. It's even more problematic when you never hear about offers or claims or claims you never hear. So questions do not arise at all. The first and most important contact person is your child's pediatrician. It is essential that you also ask yourself questions that go beyond the medical beyond the medical. This is the only way to involve psychologists, social workers or other other specialists will be involved.

It is not self-evident that a diagnosis is made and that a rare a rare disease is even recognized as such. This can be challenging and challenging and stressful for both you parents and the doctors treating you stressful. In some cases, there is a lack of experience because certain diseases are rarely encountered in practice due to their rarity. In addition, the Symptoms of rare diseases are often very different, which means that the course of the disease is always somewhat different. Even genetic tests do not always lead to a diagnosis. It is therefore increasingly the case that you parents parents cannot be given an exact diagnosis.

You as parents can make a fundamental contribution. You are around your child for most of the day, whereas doctors usually only see usually only see snapshots. In the course of the day, it is usually you who know best about the best with the disease and become experts. Do not be your experiences and assessments to the doctors who are treating you and to meet the medical community on an equal footing. And yet, remember that these same doctors still have knowledge that you lack and that is also available on the Internet, which you lack and which is also elementary on the way to the diagnosis. It cooperation and clear communication between you parents and the medical you parents and the professionals of the medical world.

The social counseling at the Children's Hospital is not only for families with low with low income (as the name might suggest), but is available to all families of children with rare diseases regarding a multitude of open questions. The counseling center is not only in the context of hospital stays of the affected child, but may also be consulted by you parents in everyday life. Because many practical problems related to the disease do not (only) arise during hospital stays during the hospital stay. Here it can be helpful to contact the social counseling of the respective children's hospital. You may express what concerns you most! you are most concerned about! Often these are quite different things than the specialists may assume. Only in this way can suitable solutions be sought and found.

It can be helpful to inform your (closest and, if necessary, also your work) environment about your child's About your child's illness/diagnosis so that the various behavioral patterns of your Your child's different behavioral patterns can be better understood and accepted. And this can also be a sign for your child that you stand by him/her and that he/she does not have to feel does not have to feel "weird. Education is also central at school central, because children expect other children to be the same. Education helps to create understanding and accept diversity

In principle, the correct and early diagnosis is important for the optimal medical care and treatment of your child. However, since many rare many rare diseases often no diagnosis can be given, it is important to look primarily at the well-being of the child and the current needs and only and only secondarily on the definitive diagnosis. The treatment of Children with rare diseases is divided into the following time horizons:

(1) Acutely, the first thing to do is to treat the Symptoms that present themselves directly, and to treat them. For this purpose it is the underlying disease, it is much more important to address the needs of the child directly the needs of the child must be directly addressed.

(2) Once initial stabilization has been achieved is achieved, one plans the further procedure. For this purpose it is helpful, but not necessary to determine the underlying disease. Rather, rather, the needs of the child can be assessed and responded to. In addition, the classical methods of diagnostics (e.g. laboratory, Ultrasound, etc.) can be used to identify and treat organ dysfunction can be treated.

(3) For a prognosis as well as for a possible long-term therapy diagnosis can be important - also for the health and/or disability insurance to cover certain Disability insurance to cover certain benefits.