Different ways to seek diagnosis
Wilhelm Foundation believes that all children who have a disease that has no diagnosis have the right to a genetic investigation even a second opinion (an assessment by another expert).
If the child has never carried out a genetic investigation, we think that the parents should ask for a referral to geneticists at the university hospital in the hospital where the child lives.
If a genetic investigation was done a few years ago, it may be time to redo it. Genetics and genetic investigation methods have developed enormously in recent years and continue to develop, which is why a new genetic investigation may be an opportunity to get a diagnosis for the child. Ask the child's doctor to write a referral to a genetic clinic at one of Sweden's seven university hospitals, genetics clinics may be linked to CSD (Centre for Rare Diagnoses). The doctors in Sweden are very good so there are great opportunities that they can give your child a diagnosis.
Many people may have heard of gene sequencing and this is where the major development takes place, which is of great benefit to anyone who lacks diagnosis. We also want to add that not all diagnoses are made by geneticists, but also good neurologists and sometimes also other disciplines (e.g. physiotherapists, orthopedic surgeons, cardiologists, metabolists) to be able to make a diagnosis. Neurologists and geneticists also work closely together to make a genetic diagnosis.
Is the child still undiagnosed
If the undiagnosed child has recently undergone a genetic examination at one of the university hospitals, there may be an opportunity to come to an Undiagnosed Diseases Program (UDP), which is a center for diagnosis. Read more under UDP Undiagnosed Diseases Program.