Here it is enough to mention Pompe disease or Noonan syndrome: we have specific therapies for both. For the latter in particular, a rare form of congenital cardiomyopathy, the first Italian child was successfully treated at Monaldi in April, thanks to the administration of an innovative drug. In other words, today it is not enough to say "you have cardiomyopathy", but you need to give it a name, precisely define the cause in order to treat it with effective weapons.
It is a significant change in medical knowledge and consequently in the doctor-patient relationship
It is a concept that implies a completely different management of the patient. It is no coincidence that with this approach we are becoming a model of precision medicine: precise in diagnosis and therefore in therapy. Today awareness of the need for training of specialist doctors and information for the general public is growing. If I have an early suspicion I can reduce the diagnostic delay and therefore increase the efficacy of the therapy. As the Campania Region we have carried out an information campaign on a sailing boat in many cities (Left the sails - Wind in the stern for research - #thinkrare), up to Marseilles, to let people know what are the alarm bells that can trigger the suspicion of a rare disease, and teach to listen to them.
How many centers for rare diseases are there in Italy?
Contrary to what one might think, Italy is the country with the most reference centers in Europe, in almost all regions. The Monaldi hospital in Naples in particular is one of the ten reference centers in our country for rare heart diseases. In southern Italy ours is the only reality and therefore we welcome a large number of patients, adults and children, not counting our genetic counseling clinic and the multidisciplinary (multi-specialist) clinic.
Among many things, you are the scientific and institutional referent of patient associations for rare diseases at the Monaldi hospital, but also in the Campania region. Is this joint part of your “precision medicine” model?
The patient is a source of understanding, he represents the other side of the coin. We doctors have our own vision, but it is necessary to constantly compare it with that of the patient. The doctor is clinical and scientific, the patient has a sphere of unsatisfied needs that must be highlighted and understood: starting from inaccurate diagnoses, to doctors who do not take care of them, passing through analyzes that are difficult to perform or therapies that are too expensive. Each of them is a source of valuable information. After all, who do we do healthcare for? Ten patients or trade associations can say ten different things, it is true, but a virtuous collaboration between institutions, doctors and patients is the only way to give effective answers and associations between patients and doctors are fundamental.