Imagine you have a child who's sick. You take your child to the doctor, who takes tests but they can not understand what is wrong, but send your child on. Now a new sampling begins, new examinations and even though you visit doctor after doctor, no one can understand what kind of disease your child has. It can take years for some children to get diagnosed and unfortunately a large part of it has a disease that is not yet discovered by medical science. But all the time new diseases are discovered and how to proceed for a possible further investigation, we tell you more about during the diagnostics.

The undiagnosed diseases are divided into three groups;

  • Children and teenagers who have no diagnosis because they have not been given come to a doctor who has great knowledge and knowledge of the rare diseases. There are about 6,000-8,000 known rare diseases. The child can also wait for test results that can sometimes take up to a year.
  • For some of the undiagnosed children, all tests and examinations are done normally (without notice) and for other undiagnosed children, test results do not match any currently known disease – in both cases, the children's disease is not detected by medical science. 
  • All the children who are misdiagnosed are also counted among the undiagnosed children. 

A delayed diagnosis can mean that the disease gets worse and, at worst, becomes life-threatening. The Wilhelm Foundation believes that all children have the right to a diagnosis and work to combat undiagnosed diseases, but also with information to parents on ways to seek diagnosis.

Wilhelm Foundation facts

  • There are no fetal samples the mother can take, to see if the fetus has an undiagnosed disease because no one knows what to look for - the disease is unknown to medical science.
  • There are also no samples you can take to see if the baby is sick or will fall ill with an undiagnosed disease. Nor if siblings will fall ill.
  • Some of the symptoms the undiagnosed children may have: epilepsy, mental retardation, motor impairment, speech difficulties, eating disorders, vision problems including scoliosis and mispositions in the limbs.
  • Having an undiagnosed disease can lead to the child not getting the help from the community that the child should receive.
  • There is no prognosis when you have a disease that is not described by the medical literature.
  • The fact that the child has an undiagnosed illness can be difficult for the environment, family and, for example, the school to understand.
  • No one knows what the diseases are due to as long as the disease is undiagnosed, but one one suspects that many of the children have genetic or biochemical errors. A very small percentage is possibly due to an infection acquired during the fetal period.
  • There is no treatment, only symptom relief such as epilepsy medicine. 
  • How the disease will manifest itself over time, no one can say, forecast is missing. 
  • How the disease is inherited, doctors also can not say, as long as the disease lacks diagnosis. 
  • It is estimated that there are 15 million undiagnosed in Europe. The figure comes from Prof. Olaf Riess, Tübingen, Tyskand.