The XV International Conference on Rare Diseases-D’Genes was streamed in sixteen countries in April 2022. Juan Carrión, D’Genes President, announced that the theme for 2022 is Equity and Rights for individuals with rare diseases.

The subject of social exclusion was discussed as being one of the risks affecting thousands of rare disease patients registered with the WHO.

Over three hundred million people worldwide are coping with the effects of a rare disease. The majority of these individuals have not received a diagnosis or adequate treatment. Most people involved are aware of the immense misunderstandings surrounding rare diseases.

Josefina Garcia of UCAM spoke to the health students in the audience. Ms. Garcia emphasized that awareness is key. That the way in which a patient is treated has the same impact as technical knowledge.

Several people whose lives are affected by rare and thus far incurable diseases were invited to speak at the event.

Juan Unzué is an ex-football coach and former player who has amyotrophic lateral sclerosis (ALS). Juan sent a message to researchers and health professionals that expressed his admiration for helping people in difficulty. He said that it conveys empathy which is what rare disease patients need.

Oscar Gonzalez, whose young daughter is coping with Ehlers-Danlos syndrome, spoke of the importance of promoting not only communication but the exchange of patient experiences.

As an example, he said that if a treatment has proved to be successful, it should be shared among other hospitals in the region.

Despite sustaining injuries from an accident and being diagnosed with an illness called spondyloepimetaphyseal dysplasia that left Juan Carrasco a quadriplegic, he is working on a project to convert standard wheelchairs into power-driven chairs for low-income individuals. His new company is called Avant Devices.

More doctors and other healthcare professionals are attempting to get a better understanding of the patient’s needs to share their fears, hopes, and sorrows.