Rare or infrequent diseases are those that have a low prevalence in the population and World Rare Diseases Day stresses to the general global population the need to take into account their effective treatment.
To be considered rare, each one can only affect a limited number of people: approximately less than five out of every 10,000 inhabitants. There are currently around 7 thousand rare diseases in the world, which affect the lives of nearly 400 million patients. More than 50% of diagnosed patients are children and 30% will not live beyond five years.
In terms of treatments, only 5% of known rare diseases have one or more treatments approved by the United States Food and Drug Administration (FDA), reflecting the lack of options for meet the patient’s care needs.
What are the challenges faced by patients with this type of disease?
Lack of information
These diseases have gone unnoticed due to their low prevalence, which has generated a delay in their research, knowledge, diagnosis, development of treatments and the possibility of informing the patient about it.
Affection of the quality of life and mental health
About 65% are chronic, degenerative or incapacitating -without a curative treatment-, which generates uncertainty about the future and the type of life that the patient will have. This uncertainty added to the physical repercussions can affect the mental health of those who suffer from it, generating stress, anxiety, emotional exhaustion or even suicidal thoughts. Therefore, it is important to try to provide adequate care to the person, not isolate or generate rejection.
More than 70% of those who suffer from them have suffered discrimination in their lives and in different areas such as education, health care and daily activities.
Delays in diagnosis
Families spend a lot of time between one specialist and another. It takes between six and eight years to obtain an accurate diagnosis, which can have serious consequences for the health of the patient and the health care system in general.
Another concern that arises among the loved ones of a patient with a rare disease is whether or not it is transmitted. It is estimated that 80% of cases are genetic, which means that parents can carry a mutation in their genome and transmit it to their children and even other relatives could also be carriers.
High investments in time and money to travel to the medical centers of reference to attend diagnostic consultations, review and even treatment, which in most cases is not recovered.
About two-thirds of rare disease cases are detected in children under two years of age. Therefore, parents must face a large amount of expenses related to this condition, from medical appointments to diagnoses, care and attention and possible treatments, in addition to travel and investment in time.
Search for new avenues of research to develop innovative treatments
The existence of patient associations and their networks has been essential to move towards a better understanding of this type of disease and for the development of potential therapies. While rare diseases collectively affect millions of people around the world, they are individually small and heterogeneous, requiring new treatments and initiatives on how to bring them to as many patients as possible.
Much progress has been made in recent years in the provision of innovative (more personalized) therapies and in the optimization of existing ones. For example:
Gene therapy: It uses the transfer of genetic material from the patient, to prevent or cure genetic diseases. Specifically, it goes to the root of the problem by transferring the correct version of a faulty gene, which is the one that causes the disease.
Multidisciplinary monitoring: Involves different specialists in the care and monitoring of each case, considering the passage from childhood to adulthood.
Biochemical markers and immunotherapy