I HAVE A
RARE DISEASE
Most rare disease have no cure, and the drugs, when available, can be expensive, so living with a rare disease is an ongoing learning experience, both for patients and families. Contacting the rare disease help line and patient associations can help you clarify some doubts and reach out to other people that may suffer from the same disease.
People living with a rare disease are frequently faced with a critical lack of information and support. Consulting a reference center can help you attain specialized monitoring and detailed information on your condition.
| Rare diseases | Places of access to reference centers for rare diseases |
|---|---|
| Pediatric oncology | IPO do Porto, EPE Centro Hospitalar de S. João, EPE Centro Hospitalar Universitário de Coimbra, EPE IPO Lisboa, EPE Centro Hospitalar Lisboa Central, EPE Centro Hospitalar Lisboa Norte, EPE |
| Hereditary metabolism diseases (including lysosomal storage disorders) | Centro Hospitalar do Porto, EPE Centro Hospitalar de S. João, EPE Centro Hospitalar Universitário de Coimbra, EPE Centro Hospitalar Lisboa Central, EPE Centro Hospitalar Lisboa Norte, EPE |
| Lysosomal storage disorders | Hospital da Senhora da Oliveira Guimarães, EPE |
| Congenital coagulopathies | Centro Hospitalar do Porto, EPE Centro Hospitalar de S. João, EPE Centro Hospitalar Universitário de Coimbra, EPE Centro Hospitalar Lisboa Central, EPE Centro Hospitalar Lisboa Norte, EPE |
| Cystic fibrosis | Centro Hospitalar do Porto, EPE Centro Hospitalar Lisboa Norte, EPE |
| Familial amyloid polyneuropathy | Centro Hospitalar do Porto, EPE Centro Hospitalar Lisboa Norte, EPE |
| Refractory epilepsy | Centro Hospitalar do Porto, EPE Centro Hospitalar de S. João, EPE Centro Hospitalar Universitário de Coimbra, EPE Centro Hospitalar Lisboa Central. EPE Centro Hospitalar Lisboa Norte EPE Centro Hospitalar Lisboa Ocidental, EPE |
| Onco-ophthalmology | Centro Hospitalar Universitário de Coimbra, EPE |
