Rare diseases may have diverse origins but if there is one thing that unites them, it is the lack of research and the helplessness of patients faced with a pathology that no one understands.

The diagnosis of a disease is not only a necessary medical situation in the medical protocol, it is a very important emotional support for patients and eases the burden of living with a pathology. When it comes to rare diseases, this diagnosis is especially important because it guides treatment and gives hope to patients. A good diagnosis is the gateway to effective treatment.

But when we talk about rare diseases, we are grouping them under a single denomination. more than 6,000 pathologies that are not only different from each other but also have their own particularities for each patient. And if we also add misdiagnosed illnesses such as the Chronic LymeWe could go on to many more pathologies. This term, rare diseases, cannot hide each of the people who suffer from them and who cannot find answers.

A rare disease is one that affects fewer than five people per 10,000 population. Around 3 million people in Spain are in this situation. and, despite the diversity of pathologies, they have commonalities:

• are often diseases chronic and degenerative diseases
• in 75 per cent of cases, they manifest themselves as before the age of two yearss, it has an early onset
• cause chronic pains in one fifth of cases
• limit autonomy to one in three patients.

If the The average time a person waits for a diagnosis is four years.In addition, almost half of the patients have received or are receiving inadequate treatment and their support needs are significant.

As for the causes, predominantly genetic (in fact, almost all genetic diseases are rare) but there are also autoimmune diseases, infectious diseases and types of cancers with such a low incidence that they are considered rare diseases.

Autoimmune diseases, rare diseases

In general, the self-immune diseases are frequent and chronic. They affect 10 percent of the population in Spain, a figure that rises to 14 percent after the age of 55. What happens to patients in this group who suffer from a very rare disease and do not find a good diagnosis and treatment? Life, in all its aspects, is conditioned by the disease.

Type I diabetes, psoriasis, rheumatoid arthritis, polymyalgia rheumatica, ulcerative colitis, celiac disease or Sjögren's syndrome are some of the most common autoimmune diseases and are not considered rare diseases.

But more than naming the pathology, We must be able to understand the biological mechanisms that are activated in each case. and trigger the autoimmune response, what is the cause or the set of factors at work? In the case of rare diseases, knowing this is particularly relevant as effective treatments have not been developed because research into them is not cost-effective.

The integrative approach in the treatment of rare diseases

As specialists in the diagnosis and treatment of autoimmune diseases, at Biosalud Day Hospital we have published several articles on these pathologies in which the genetic or hereditary component is very high.

This factor is not reversible but we can address causality and make a precise diagnosis of what and how the autoimmune disease affects each system. In addition to genetics, there are environmental, hormonal and even infectious aspects. With all the scientific and clinical knowledge to date, why not change the approach and look at the patient as a whole?

The approach to a rare autoimmune disease must be comprehensive and involves different phases. The application of the Biosalud Method of personalised medicine provides immunomodulation, improvement of the digestive system and proper liver function. A personalised diet with natural foods and without additives, together with appropriate supplementation, form part of the treatment that the patient must follow at home. In addition, psychological therapy, mind-body harmonisation and other therapies that alleviate pain or improve some of the patient's symptoms should also be included.

A person with a rare disease and his or her family members are protagonists in the treatment, play an active role and are well informed. From the first symptoms until a diagnosis is made, there are many specialists, tests and situations in which they do everything possible to improve the patient's life.

Why are rare diseases rare?

The answer lies in the profitability and health policy of the United States. In the 1960s, the Thalidomide crisis broke out: thousands of children around the world were born with birth defects because their mothers took the drug to prevent nausea. Because of the complaint of the supervisor of the Food and Drug Administration, the Kefauver Harris amendment was introduced in the Senate, and President Kennedy signed it into law in 1962.

Since the enactment of this regulation, medicinal products could only be authorised after clinical trials that ensured their efficacy and safety, as well as information on the side effects of their administration.

This legal obligation increased the price of drug research and development, and the pharmaceutical industry has since turned to research into drugs for more prevalent and therefore more profitable diseases.

The curious thing is that in the United States this drug was not authorised but, in view of the cases of malformations that arose throughout Europe, its approval was halted with this regulation.

The history and regulation of the pharmaceutical industry is much more complex but, in the face of rising drug prices, research into "orphan drugs", necessary for the treatment of rare diseases, was regulated both in the United States and in Europe.

Much-needed therapeutic innovation is already being developed with genomics but can also come from data processing, predictive systems and other technical disciplines. But integrative medicine has already been innovating for years with an individualised and comprehensive approach.. To all the knowledge of conventional medicine we add techniques that allow us to work with all the "layers" of the disease, especially when they do not have that hereditary origin.

The great diversity of people is reflected in the causes and symptoms of the diseases we suffer from, and it is just as important to learn from traditional classifications and treatments as it is to take a more transversal view of the disease and to take into account the patient himself.