There are over 8000 rare diseases worldwide, and only 5 percent have been researched!
This rarity has the consequence that there is little expertise compared to other diseases. Affected persons as well as specialized physicians often live at great geographical distances. This makes diagnosis more difficult. Through nationwide and cross-border cooperation, the creation of specialized centers and the dissemination of expertise, it has been possible to improve the correct and faster diagnosis and also the care of those affected.
Important steps on the way to diagnosis
1. Step: prenatal examination at the gynecologist's office
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.
2. Step: Newborn screening in hospital
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.
3. Step: Initial clarification by pediatricians
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.
4. Step: In-depth clarifications by specialists
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.
5. Step: Genetic examination by geneticists
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.
6. Step: clinics and centers for rare diseases, if previous steps did not result in a diagnosis
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.
Note 1: Only by asking questions can answers be found
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.
Note 2: Physicians are not always able to make a diagnosis using the above steps
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.
Note 3: Togetherness on the path to diagnosis is central
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.
Note 4: Early psychological care can help cope with emotional challenges
Note 5: Social Counseling will assist you in answering unanswered questions
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.
Note 6: Inform those around you about your child's illness/diagnosis
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
Note 7: The focus is on the well-being of the child, secondary is the definitive diagnosis
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.
Important questions - prenatal examination
Which examinations can already be performed during pregnancy?
For pregnant women between the 12th and 14th week of pregnancy. First trimester screening is offered. This includes an ultrasound examination with nuchal fold measurement of the fetus. The Pregnant women are informed about all the possibilities of prenatal diagnostics but are completely free to decide which of them they want to use They wish to use. In addition, the blood of the pregnant woman can be tested for genetic Blood of the pregnant woman can also be examined and it can be determined, for example, whether the down syndrome is present in the expected child. If there are abnormalities in the Ultrasound, however, it would be advisable to puncture the amniotic fluid or the placenta Placenta,because this would allow more detailed examinations of the chromosomes and individual genes are possible. But even these examinations are of course voluntary.
What is the procedure if abnormalities are already detected during pregnancy?
Gynecologists detect abnormalities in the unborn child during screening examinations,
this is followed by an examination by a prenatal physician. If the suspicion is confirmed
If the suspicion is confirmed, the parents concerned are cared for by a team of specialists. However, the decision for or against the child must be made by the parents alone
Important questions - newborn screening
Why does a diagnosis of a disease sometimes take so long and is not already detected during newborn screening?
There are two elementary reasons for this: on the one hand, the screening is is not too comprehensive. The diseases tested are selected very carefully selected very carefully in order to minimize the risk of false positives, i.e. that a that is, that a disease is reported as present that may never break out or be Never breaks out or is not present. On the other hand, any Change in newborn screening is a very complex process that requires a lot of information and Amount of information and facts. In Switzerland, it is hardly possible to obtain sufficient meaningful figures, so that it is necessary to wait until the appropriate data and data and adjustments from abroad. This fact is also not easy for This fact is not always easy to accept, even for specialists and hospitals.
Switzerland: Useful information for parents
Important questions - pediatricians
How is the collaboration between pediatricians and the hospital departments organized?
Many children's hospitals now have
Hospitals have so-called case managers who take care of complex cases
cases. The aim is to ensure that for every child with a complex illness, it is clearly
defined who is in charge of the case at the hospital. This facilitates
Communication within the hospital with the child and the parents, and also improves
cooperation with the pediatrician's office.
Important questions - specialists
Which specialists should be involved on the way to diagnosis?
There is no universal answer to this question. Depending the rare disease the child is afflicted with, the symptoms, organ-specific Symptoms, organ-specific changes or even the external features of the Peculiarities are different. For example, a child will be referred to Pediatric cardiology if the pediatrician detects abnormalities in the heart Heart are detected by the pediatricians. Other specialized physicians who may be important for the important in the search for a diagnosis are: Otolaryngologists, Dentists, immunologists, orthopedists, etc. And so it can also that a child has to see several specialists until a diagnosis can be found and Diagnosis can be found and unfortunately this is not always possible.
Important questions - geneticists
Are genetic tests covered by health insurance?
Duration to receive the results?
For the genetic tests themselves, we are talking about timeframes ranging from
one or two weeks to several months. If nothing is found during the genetic
analysis, it can take much longer or it can even happen that the search is
the search is stopped for the time being. However, it is important to emphasize
that specialists know more and more genes from year to year. It can therefore
make sense - in consultation with the doctor in charge - to search
physician - to reassess the existing test data two years after a genetic test, for example, or
Test data again or to carry out a new test.
Perhaps a genetic defect can then be identified and the disease determined
Important questions - Centers for Rare Diseases
Where are there centers for rare diseases in Switzerland?
Based on the national "Rare Diseases" concept
nine kosek-certified centers for rare diseases have been established throughout Switzerland
have been established. The aim of these centers is to provide competent support to patients, their relatives
patients, their relatives and health professionals, and to bundle their knowledge
knowledge. This should enable a faster diagnosis and improve the coordination of treatment
Coordination of treatment. With their hotlines, the
Centers offer advice by telephone, but the referral is made by the treating
referral to the center in question is made by the treating physicians.
Centre Maladies Raraes des Hôpitaux Universitaires de Genève (Geneva)
Centre Maladies Rares du Centre hospitalier universitaire Vaudois (Lausanne)
Centro per le Malattie Rare della Svizzera Italiana (Ticino)
Center for Rare Diseases of Eastern Switzerland (St. Gallen)
University Center for Rare Diseases (Basel)
Center for Rare Diseases (Zurich)
Center for Rare Diseases at the Lucerne Cantonal Hospital (Lucerne)
Center for Rare Diseases (CRD) at the Kantonspital Aarau AG (Aarau)
Center for Rare Diseases Inselspital (Bern)
In Germany, the so-called SE Atlas Provides information about centers for rare diseases. In Austria such an overview is available through the Forum Rare Diseases can be found.
What is a rare disease registry?
Switzerland has a national registry for rare diseases (the SRSK) Diseases (the SRSK). This register collects information on as many people as possible rare disease living and/or being treated in Switzerland. The goal is to record rare diseases more precisely, to create knowledge and to and also to support research. The aim is to ensure better Care for those affected. By participating in the SRSK patients have the opportunity to take part in studies (e.g. on new therapeutic Therapy options) or to participate in surveys. In addition, participation in the Participation in the SRSK gives them the opportunity to establish contact with other patients.
Important questions - Further family planning
What is the likelihood that another child could again suffer from the sibling's rare disease?
genetic cause can be identified, a clear answer can often be provided
Answer can be provided. However, statistics do not help in individual cases, because
for those affected it means diseased or not diseased. Many diseases
diseases lead to different manifestations of the clinical picture, while other diseases
other diseases cannot currently be assigned to a genetic cause.
In this case, many questions remain unanswered about the risk of recurrence, developmental prognosis and
Treatability remain open.
What options are available to support families regarding further family planning when their child has a rare disease?
A genetic diagnosis helps to quantify possible effects on possible further children. In other words, it can provide information on the Information can be offered on the risk of recurrence and on prenatal diagnostic can be offered. Accordingly, a genetic examination (as described above described above) of the affected child and/or parents may be recommended to help Assist parents in assessing future family planning. If a chromosomal disorder or genetic defect has already been detected in the family, it is family, the affected site can be checked relatively easily and specifically in relatives Affected site can be checked.
See above: step 1 and the section "Prenatal examination" Examination".
Interesting technical articles from the KMSK knowledge books "Rare Diseases
1. KMSK Knowledge Book "Rare Diseases - Insights into the Lives of Affected Families"
Dr. med. Valérie Oesch, Pediatric Surgery at the Cantonal Hospital in Aarau: Every diagnosis includes a family history
Prof. Dr. Reinald Brunner, Neuroorthopedics at UKBB Basel: Compared to other diseases, CMT is relatively benign
Prof. Dr. Beatrice Früh, Inselspital Bern, University Clinic for Ophthalmology: A child with such a diagnosis is a big, lifelong task
Marion, M.D Jäger-Strasser, pediatric and adolescent medicine FMH, Ärzte im Zentrum, Weinfelden: NF1 is a disease with many faces
Seraina Prader, MD, Immunology, Pediatrics and Adolescent Medicine:
Sina and Thilda have very good prognoses
Tobias Iff, MD, Pediatrics and Adolescent Medicine Focus Pediatric Neurology, Zurich: I would like to see a coordination center for affected parents
Prof. Dr. Matthias Baumgartner, Department of Metabolic Diseases at the University Children's Hospital, Zurich: We are glad that GA-1 is now included in the newborn screening
Prof. Dr. Urs Eiholzer, Pediatric and Adolescent Medicine, Pediatric Endocrinology Center Zurich, PEZZ: You have to constantly stay tuned
Dr. med Sossai, Pediatric Surgery, Children's Hospital Lucerne: The Brittle Bone Disease
Dr. med. Iris Ataia-Bühler, Children's and Adolescents' Practice, Tittwiesen: I admire the parents very much, how they deal with the fate of their children fate of their children
Dr. med. Philip Julian Broser, Center for Child Neurology, Development and Rehabilitation (KER Center) of the Children's Hospital of Eastern Switzerland in St. Gallen: Andrina is already receiving the best possible support
2. KMSK Knowledge Book "Rare Diseases - The Way - Genetics , Everyday Life, Family and Life Planning"
Dr. med. Gian Bischoff Pediatrician, Pediatric Practice Altstetten: The difficult role of the pediatrician in a complex disease
Dr. med. Kerstin Hug, Practice for Gynecology and Obstetrics Stans:
there is practically never 100% certainty
Prof. Dr. Anita Rauch, Medical Genetics, Institute of Medical Genetics, University of Zurich: Genetic diagnostics provide certainty, but do not heal
Agnes, M.D Genewein, Neonatology, University Children's Hospital Basel (UKBB): Sick or not? In individual cases, even statistics are of no help
3. KMSK Knowledge Book "Rare Diseases - Therapies for Children and Support for the Family"
Ernst Niemack, Association of Pharmaceutical Companies in Switzerland (visp): Rapid doubling of basic medical knowledge helps sufferers
4. KMSK Knowledge Book "Rare Diseases - Psychosocial Challenges for Parents and Siblings"
Dr. med. Katrin Lengnick, Pediatrics and Adolescent Medicine, Focus on Neuropediatrics and Developmental Pediatrics, Children's Hospital of Eastern Switzerland: Often the symptoms of affected children are often very unspecific at first
5. Knowledge Book "Rare Diseases - Digital Knowledge Platform for Parents and Professionals"
Dr. med. Irene Dingeldein, Practice for Gynecology and Obstetrics: From the first abnormalities to the decision for or against the sick child
Tobias Iff, MD, Center for Child Neurology AG, Zurich: Communication between parents and physician helps in making a diagnosis
Prof. Dr. med. Anita Rauch, Institute of Medical Genetics, University of Zurich: By genetic test to diagnosis