Talking about the unknown or little investigated is still a taboo. However, rare diseases are more common than it is believed. Currently, specialists estimate that one in 2,000 people suffer from some of these pathologies.
At least 8 thousand diseases cataloged as difficult to diagnose, many of which compromise the quality of life of patients in the difficulty of obtaining an appropriate and timely diagnosis.
In an effort to make visible these conditions, World Day of Rare Diseases commemorates the last day of February, varying between 28 and 29 according to the year. Its purpose is to raise awareness about the struggle of those who live with these conditions and promote medical research.
Pathologies with genetic origin
Dr. René González Flores, general director of the Center for Genetic and Genomic Diagnosis and President of the Dard Foundation Aldana for the Development of Science and Technology, said that these diseases, classified as rare, have increased in the population and are now called diseases of difficult diagnosis.
Although it is estimated that one in 2,000 people suffers from them, the figure could be greater due to the lack of precise information and diagnoses.
“If they were only five rare diseases, it would not be a problem. However, almost 8 thousand are known today, and 90% have a genetic basis, ”said González Flores.
According to experts, these pathologies represent a public health challenge, since between 5% and 7% of the world’s population could be affected.
“In Guatemala, with a population of approximately 18 million inhabitants, between 800 thousand and 1.2 million people could suffer a rare disease, know it or not,” said the doctor.
Not all of these diseases are disabled or visible, but many are serious and represent a vital risk, so their study is essential to develop treatments or even priests.
Late Diagnosis: The greatest obstacle
Specialists consulted by Free press They agreed that the main problem of rare diseases is the difficulty in diagnosing them. It is estimated that worldwide exist between 8 thousand and 10 thousand diseases of this type, although the figure varies due to the complexity to identify them.
This challenge can delay the diagnosis for years and make it even more difficult to obtain adequate treatment.
To dimension the impact of this problem, Dr. González Flores explained:
“In Europe, where there are more studies on the subject, a patient with a rare disease can take up to eight years to obtain a precise diagnosis and be referred to a specialized center. If that happens in Europe, what will happen in Guatemala, where health services are even more limited? ”
The expert said that, although there are highly trained doctors in the country, the approach to these pathologies is complicated due to the shortage of genetics specialists and rare diseases.
“It’s not just about having advanced technology, but having trained professionals to interpret the results and using them for the benefit of patients,” he said.
For her part, Dr. Jenny Portillo, a neurologist specialized in neuromuscular diseases – a closely related to rare diseases – explained that a disease is considered rare when its prevalence in the population is low.
“One of the biggest challenges is that these diseases are very similar to each other, which delays the diagnosis. Doctors can take four and eight years to identify them and, in some cases, up to 40% of patients never receive a definitive diagnosis, ”Portillo said.
In addition, he warned that four out of ten diagnoses of rare diseases are wrong due to the similarity of symptoms with other conditions, since these pathologies can manifest with neurological, immunological or even dermatological symptoms common, which further complicates their identification.
Portillo stressed that another of the obstacles is that many patients consult with specialists outside the genetic field or rare diseases, which further hinders the diagnosis.
“You can’t diagnose what is not known,” he said.
Therefore, he emphasized the importance of going to specialists with genetic training and difficult diagnostic diseases to avoid delays in medical care.
Symptoms and detection of rare diseases
The diagnosis of these diseases is complex, since in their early stages the symptoms are usually common and can be confused with other pathologies, including other rare diseases, according to specialists.
Dr. René González Flores stressed that these conditions can manifest in various ways, but there are warning signs in children who could indicate the presence of a rare disease:
- Growth delay
- Delay in the development of march or language
- Intellectual disability
- Behavioral disorders, such as hyperactivity, attention deficit or autistic spectrum disorder
- Learning difficulties
- Congenital or acquired deafness
- Deformities in the skull, face, limbs or thorax
“If one in 2,000 people suffer from a rare disease, it is crucial for doctors to consider these signs to avoid diagnostic delays,” said the specialist.
Dr. Jenny Portillo explained that currently only 10 % of rare diseases have an established treatment worldwide, which means that 90 % of cases are still under investigation.
“It is essential to diagnose more cases because medical research progresses constantly. The greater the amount of diagnoses, the greater the information available to develop effective treatments in the future, ”said the expert.
There is no age to express symptoms
Some diseases considered rare, such as Miasthenia Gravis, are more common than what is believed and found among the most treated pathologies in neurology. This condition affects approximately 30 people per million inhabitants.
Portillo indicated that there is no specific age to make a diagnosis or a check that determines whether a person will suffer or suffer from any of the 8,000 rare diseases identified, since each one has different periods of manifestation.
In the case of myasthenia gravis, for example, the disease can occur in two ways:
- Youth or early: Before 40 years
- Late: After 40 years
Each has different symptoms according to age and, in some cases, does not show obvious physical signs, which makes its diagnosis even more difficult.
“Some rare diseases can be mortal if they are not diagnosed and treated in time. However, when they identify correctly and receive proper treatment, patients can lead a normal life, ”added Portillo.
An example is myasthenia gravis. Without treatment, the patient can develop a neuromuscular fault crisis, in which the muscles stop working, including those that allow breathing. This condition can be fatal. However, with a timely diagnosis and a maintenance treatment, people can lead a completely normal life.
Lack of knowledge Diagnosis and treatment delay
Dr. René González Flores emphasized that rare diseases are not really unusual; The strange thing is not to have diagnosed any.
“If doctors have not seen a rare disease, they are probable that they have not recognized it. Early detection is key to improving the quality of life, autonomy and patient’s happiness, ”he explained.
According to experts, the lack of recognition of these pathologies is due, in large part, to the shortage of funds for medical research, especially in the public sector. This limits the training of doctors, preventing them from becoming specialists in low prevalence diseases.
González Flores highlighted the need to strengthen the medical sector:
“As a society, we must promote research, access to treatments and medical training so that more people receive the diagnosis and attention they deserve,” he said.
Ignorance about these diseases not only affects the physical health of patients, but also their emotional well -being. The lack of an accurate diagnosis generates anxiety and uncertainty.
A frequent case, according to Dr. Jenny Portillo, is that of patients diagnosed with neuropathy. This term is used to describe disease symptoms, but many people do not know that neuropathy is not a pathology itself, but a symptom.
“If neuropathy is caused by diabetes, treatment focuses on controlling blood sugar. However, if it is caused by a rare disease and it is not properly treated, it can progress until the patient walks, ”explained the neurologist.
The problem is that many patients receive incorrect diagnoses and, not finding solutions, lose confidence in doctors. In turn, health professionals cannot identify diseases they do not know. Therefore, specialists emphasize the importance of investing in research and medical education to improve the detection and treatment of these pathologies.