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Empathy and equality, the demands of rare disease patients

More than four hundred people attended the first day of the event organised by D'Genes and UCAM, which was streamed in sixteen countries

More than 100,000 people in the Region of Murcia, more than 3 million in

Spain and more than 300 million in the world suffer from a rare disease,

figures that illustrate the dimension of a problem that millions of families cope

with. For this reason, the XV International Conference on Rare Diseases

D'Genes - UCAM
continues to grow in importance, providing a

multidisciplinary vision to face the challenges that arise in all areas:

research, healthcare, diagnostics, institutional involvement and associations.

The event, streamed to sixteen countries, was attended by more than 400

people on its first day, including those who were present at the Los Jerónimos

Monastery and those who followed the presentations online. All of them were

able to listen to the experiences of people who live their daily lives with the

disease, such as Juan Carlos Unzué, ex-football player and coach, who

suffers from ALS: ‘To all health professionals and researchers, I want to

convey my admiration. When you were very young, you decided to help

people in difficulty, and that shows an enormous empathy. That empathy is

what we patients need when we are in front of you’.

Juan José Pedreño, Minister of Health, Josefina García, Rector of UCAM, and Juan Carrión, President of D'Genes, talk to Juan Antonio Carrasco and Óscar González, who live with a rare disease

Óscar González, father of a young girl suffering from Ehlers-Danlos

, stressed the importance of strengthening the relationship between

those who live with a rare disease, as ‘associationism is the way in which

patients and families structure our efforts and our means, promoting

communication and the exchange of experiences. For example, a successful

treatment received by a patient in one hospital in our country can be quickly

shared and successfully replicated elsewhere, as was the case with our

daughter’. Juan Antonio Carrasco, who suffers from

spondyloepimetaphyseal dysplasia, explained some of the challenges he

faces, despite the difficulties caused by his illness and an accident that left him

quadriplegic: ‘I have a project to develop devices that convert manual

wheelchairs into electric ones. For people with limited resources. It's called

Avant Devices, and I'm developing it in collaboration with UCAM HiTech’.

The Minister of Health Speech

The inauguration of the congress was attended by Juan Carrión, President of

the D'Genes Association; Juan José Pedreño, Regional Minister of Health

of the Region of Murcia; and Josefina García, UCAM Rector, with Carolina

, Minister of Health, speaking online. According to Carrión, this year's

theme is Equity and rights for people with rare diseases, because ‘the

approach to these diseases in our country also reflects situations of inequality.

We can see this in the access to diagnosis. For example, the Region of Murcia

includes forty rare diseases in the neonatal screening tests, but in others there

are only twelve, which are those established at state level. On the other hand,

there is treatment, as we need to achieve equity in the access to orphan drugs.

The Regional Minister of Health stressed the importance of further research:

‘above all in genetics, as 80% of these diseases are genetic in nature and

approximately 65% are discovered at paediatric age, so we want to focus on

this point in the Region of Murcia’. From the UCAM perspective, Josefina

García reminded the health students present at the congress that ‘you have to

be very aware that how you treat the patient is as important as technical

. You can face situations with hope and closeness, and that will

always be better than doing it coldly’.

Juan José Pedreño, Minister of Health, Josefina García, Rector of UCAM, and Juan Carrión, President of D'Genes, talk to Juan Antonio Carrasco and Óscar González, who live with a rare disease


One of the risks of suffering from a rare disease, beyond the health problems,

is not having the necessary support to cope with a difficult and complex

situation. In this regard, the Minister of Health commented that ‘many of the

people suffering from one of the more than seven thousand rare diseases

registered by the WHO are in a precarious state of social exclusion; most of

them need improvements in their situation, both patients as well as their