Of low prevalence among the population and often unknown until they must be faced, rare diseases are little investigated and it is difficult to achieve an opportune diagnosis, since it can take up to ten years to discover the origin of a disease.
There are very few that have treatments, which are also usually expensive.
According to the World Health Organization (WHO) rare or low-prevalence diseases are those that occur in less than five people per ten thousand inhabitants and to date more than seven thousand have been registered internationally.
On February 28, World Rare Diseases Day is commemorated with the aim of recognizing the existence of those genetic diseases that occur in low prevalence and have as a common denominator that they are highly disabling and progressively weaken the people who suffer from them.
Fortunately, advances in genomic medicine make it possible to improve the health of people with some rare disease, with biotechnological treatments and appropriate clinical approaches that help patients improve their quality and life expectancy, as well as family members and doctors. specialists to make better decisions.
It is estimated that there are currently 350 million people with rare diseases in the world, which are often difficult to diagnose; however, physicians specialized in genomics can work on next-generation sequences, thus allowing timely and accurate detection, with precise molecular diagnoses.
In the last two decades, genomic medicine has registered great scientific and technological advances that allow us to understand human diseases to the point of being able to count on new therapies that help improve quality of life.
However, many highly complex diseases remain to be understood, so the scientific community continues to search for therapeutic options that improve the living conditions of patients.
The revolution in genomic medicine and its relationship with other areas of study facilitate the development of preventive medicine, in addition to addressing diseases in a comprehensive manner, including biological, environmental and behavioral factors that can modify and even cause rare diseases.
obstacles
Every year, on the last day of February, the world day of these conditions is commemorated. Why was that day chosen? Because February is the only different month that, depending on the year, can be a leap year or not. This rarity makes it unique.
In Mexico there is no exact record of rare diseases, although it is estimated that 6% of the population could have one and that 70% is of genetic origin. For example, in the case of hemophilia, it is estimated that six thousand patients in Mexico have this condition, for which there is therapy and people can lead a normal life. However, the care of these conditions faces great challenges such as ignorance, stigma, discrimination and lack of timely diagnosis and treatment, to thereby avoid disability or a fatal outcome.
“After confirming the diagnosis of any of the rare diseases, family members should be notified, because other family members affected or who are carriers of the gene that triggers the disease can be identified. The benefits of early diagnosis are particularly convincing: they allow an extension of life expectancy”, points out Juana Inés Navarrete, from the Mexican Association of Human Genetics.
The specialist adds that “some patients with rare diseases live for months, years or in many cases their entire lives with an undiagnosed disease, since obtaining it can be a long and difficult journey. This can generate high levels of anguish and stress, even causing feelings of isolation and exclusion that worsen the chaotic journey through the evolution of the disease.
Luis Carbajal, from the National Institute of Pediatrics, says that “diagnosing a rare disease implies more or less than 30% being diagnosed during a period of five to ten years; also, that at least 20% be reviewed by more than ten doctors; And that’s one of the problems because they don’t know exactly what they’re up against.”
genetics
For all these reasons, “on this day we want to raise awareness about these diseases and their symptoms, which progress differently among people. Patients can take between five and ten years to be diagnosed, delaying access to timely treatment, preventing disability and diminishing their quality of life. Listening to these patients, having up-to-date information and taking advantage of science and research are key points for the care of these conditions”, highlights Daniela Morales, associate director of Genetic Diseases at Takeda Mexico.
Almost 70% of rare diseases are genetic and also 70% of them affect children. Hereditary angioedema, Hunter syndrome, Fabry and Gaucher disease are rare diseases that, although they are different from each other, have a genetic origin. Hemophilia is also considered a rare disease due to its low frequency. On average, 6% of people may have a rare or unknown condition without knowing it, details the specialist.
Similarly, Mike Vivas, medical director of the same pharmaceutical company, says that they focus on the innovation of treatments for rare diseases. “We go beyond drug innovation to deliver integrated therapeutic solutions that redefine the patient journey from diagnosis through condition management, with an eye to one day having a cure.”
In the same tone, Jesús Navarro, president of the Mexican Organization for Rare Diseases (OMER) and the pharmaceutical company Novartis México, says that synergy will be created through various public initiatives to achieve recognition of low-incidence conditions such as Spinal Muscular Atrophy (AME) and hereditary retinal dystrophies (DHR) in the country.
He highlights that “through this collaboration we will seek to promote in public forums, with parliamentary groups, with patient associations and with public institutions the relevance to recognize the AME and the DHR in the National Registry of Rare Diseases of the General Health Council (CSG), which will improve their health condition”.
Because of this diversity of disorders, symptoms differ not only from one disease to another, but from one patient to another with the same condition. In this regard, Yuriria Valle, medical director for Rare Diseases at Novartis Mexico, adds that “hence the importance of raising awareness and also training the medical community in the diagnosis, monitoring and understanding of genetic diseases.”
That is why “we developed a series of videos to give visibility to the challenges faced by families and doctors. We want to publicize them throughout the year to keep the topic alive and with it the relevance of helping patients. We seek to be that valuable ally for patient organizations in order to build sustainable initiatives and above all that integrate the perspective of patients with the aim of really providing them with a benefit that is reflected in quality of life”, he concludes.