Although some diseases are rare, the number of people suffering from them is significant. There are between 6,000 and 8,000 rare diseases affecting a total of 6 to 8% of Belgian people.
A lot of rare diseases are affected by the problem of an errant diagnosis: wandering from one doctor to another, trying ineffective treatments that follow incorrect diagnoses and sometimes never even receiving a diagnosis.
This difficulty to identify diseases is an additional source of psychological suffering for the patient and for those close to them.
Rare diseases are difficult to diagnose because:
- the symptoms are varied, complex and involve multiple medical specialties
- not all doctors are aware of all rare diseases
- some rare diseases have not even been described yet.
80% of rare diseases have a genetic origin. Genetic tests are available for approximately 50% of rare diseases.
A genetic test can be carried out:
- if someone is suffering from symptoms that resemble those of a rare genetic disease
- if a genetic disease has clearly been identified within the family
- within the framework of a pre-implantation diagnosis (detection of a known genetic or chromosomal abnormality in the embryos conceived following in-vitro fertilization)
- during pregnancy with prenatal screening (combined or triple test for trisomies 13, 18 and 21), with a non-invasive prenatal test (NIPT) or another genetic test
- at birth (neonatal screening)
To find out more about genetic tests: