Almost half of people with rare diseases without follow-up in reference centers

Almost half of people with rare diseases without follow-up in reference centers

Almost half of people with a rare disease are not monitored in reference centers for their pathology. The reasons are lack of knowledge, non-existence or follow-up in a specific consultation, reveals a survey released this Thursday.

The survey promoted by the Union of Rare Disease Associations (RD-Portugal) took place in November 2023 and involved more than 200 patients. According to the study, 48% of respondents are not monitored at Reference Centers (CR). Of these, 19% say they are being followed up in a specific consultation, 17% say it does not exist for their disease and 7% are unaware of its existence.

Although there are around 30 reference hospitals spread across seven groups of rare diseases, their existence is not properly publicized and accessible to patients, said a person responsible for the organization.

On the other hand, noted Raquel Marques, “not all rare diseases or groups of diseases have a defined reference center and this leaves some people without specialized care for their disease”.

The study, released on World Rare Disease Day, shows that a quarter of respondents have to travel between 20 and 50 kilometers from their home to the hospital. 17.8% travel between 50 and 100 and 12.7% more than 100 kilometers.

“Every time they go to a hospital for a consultation they go in the ambulance (…) it ends up becoming expensive for the State and for the person it is very complex”, explains Raquel Marques, cited by the Lusa agency. Many of these patients do not have their appointments combined or scheduled for the same day and have to go to the hospital several times over a short period of time and travel a long distance.

Some patients have appointments at a nearby hospital, but the problem is that communication often fails between the professionals who accompany them and the specialists at the referral center. More than 70% of patients are followed up between three and five specialty consultations, the study states, adding that 91.8% have separate consultations and only 8.2% have a multidisciplinary consultation.


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