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.
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
- during a pre-implantation diagnosis (detection of a known genetic or chromosomal abnormality recognised 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)
DID YOU KNOW? Pregnant women are advised to take folic acid. This vitamin B9 also known as folate, can reduce the risk of congenital neuronal anomalies, which give rise to malformations, such as spina bifida for example.To find out more about genetic tests:
Within the context of neonatal screening, quick and appropriate treatment of certain rare diseases avoids complications.
Other preventative measures
Vaccination enables the prevention of certain infectious diseases that have become rare, precisely thanks to vaccination (mumps, rubella, tetanus, yellow fever, malaria, typhus).
Preventative treatments are recommended before travelling to regions where certain diseases are still endemic (such as malaria in Africa for example).
Improving quality of life
Even if numerous rare diseases do not have a specific treatment, tailored care can reduce the functional incapacities to improve quality of life and facilitate social and professional integration.