- Neurofibromatosis type 1 causes the appearance of benign tumors in any part of the body and increases the risk of developing cancer up to five times more than the rest of the general population.
- Specialists point out that timely diagnosis and treatment are key to a better quality of life for people living with this condition.
- Currently it is estimated that one in 3,000 children develops it.
Medical specialists warn about the importance of an early diagnosis of the Neurofibromatosis type 1. It is a rare disease that affects one in three thousand children and currently has no cure. Therefore, adequate follow-up and treatment is key to improving the quality of life of people with the condition.
What does it consist of?
The Neurofibromatosis type 1 It is a genetic disorder that causes tumors in any part of the body. It is due to mutations in the NF1 gene and in 50% of cases it occurs in a new way in a family, that is, without another affected member. While in the other 50% it is by inheritance from the parents.
Dr. Liliana Fernández Hernández, a medical geneticist, attached to the molecular biology laboratory of the National Institute of Pediatrics, indicated that “affected people have five times more risk of developing cancer throughout their lives, so they require close monitoring. In addition, it is confirmed that it can cause problems such as learning impairment, heart problems, vision loss and / or intense pain.
Timely detection of this disease is one of the main concerns of doctors. In the case of children, symptoms usually appear at birth or in the first 10 years of life.
“One of the first ways to identify Neurofibromatosis type 1 is with the appearance of brown spots in different parts of the body and with very well defined contours. When a parent observes this situation, it is extremely important that they go to the doctor to have the child checked out. In addition, this disease tends to evolve and, over the years, can bring more problems. Hence the importance of treating it in its early stages.
For her part, Sandra Liliana Magallón, president of the Association Friends with Neurofibromatosisemphasized that in Mexico it is a disease that is not known and that unfortunately the person goes through many subspecialists before obtaining an adequate diagnosis.
“It is urgent that we start talking about it. That we provide information to parents about the dangers that minors are in and we can identify the symptoms so that their sons and daughters have an early diagnosis. Although there is no cure, there is a treatment that exponentially improves their quality of life.”
What is a rare disease?
According to the World Health Organization (WHO), rare diseases are those that occur in fewer than five people per 10,000 inhabitants. But although it seems like a minor and insignificant problem, in total it is estimated that there are 350 million people with a problem of this type.
To give greater visibility to this type of disease, the last day of February was designated as the World Rare Disease Day. This date was chosen because it is the only one in the whole year that changes when it is a leap year. In this way, the ephemeris works as a symbolic way of associating this rarity of the calendar with a special group of ailments.
The objective is to raise awareness and help people who suffer from this condition to receive, in a timely manner, the proper diagnosis and treatment. For this reason, today more than ever the cooperation of governments is needed to make these treatments accessible to a greater number of people who suffer from these disorders.
It should be noted that currently there are between six thousand and eight thousand pathologies that fall into this category in the world. Of these, 72 percent are of genetic origin, while 70 percent exclusively affect the pediatric population.
This is the first Medical Unit for Rare Diseases in Mexico
Chart of the day: The only 20 rare diseases that are recognized in Mexico
Genetic medicine, the solution against rare diseases?