Daniel Bustelo is a 41-year-old man from San Juan who suffers from Marfán Syndrome, one of the strangest diseases in the world and unfortunately there is no cure. One of the most striking symptoms that he presents is that the people who have it are excessively tall, like the protagonist who is 2.12 meters tall. However, the bone problem is not the only one since it also affects the heart, vision, lungs and blood vessels.
With an average life expectancy of 45 years, Daniel gets up every morning with the necessary strength to overcome the limit that reality imposes and, accompanied by his wife, stands up to adversity. That is why, among so many occupations involved in the treatment of pathology, a space was made to talk regarding the disease and for the rest of society to know that it exists and what it is regarding.
The owner of the story explained that MS is a genetic disorder that affects the connective tissue and attacks the soft parts of the body. In his case, it caused damage to 50% of his vision following the retinal detachment he suffered in his left eye and it is not ruled out that the same might happen with the other eye.
However, what keeps him alert is the functioning of his cardiac system and that is why in the coming weeks he will undergo surgery on the largest artery in the body, the aorta. Although the intervention is highly risky, it is a maneuver to -nothing more and nothing less- continue living. It is that people who have this disease are exposed to heart failure that can be fatal.
Daniel, who since he was 8 years old lives with the rare pathology that inhabits his body and that his closest relatives also have, said that he always led a normal life and even practiced various sports, although it is not recommended that those with MS do so, since In the past, very little was known regarding the disease. He was detected in the early years of Primary, when he stood in front of the blackboard because he “didn’t see anything.” An ophthalmologist diagnosed him and referred him to Buenos Aires.
Throughout his years of youth he did not present complications in his health, although his drama was in everyday life. Because of his large size, he had trouble getting clothes and shoes and so he got used to dressing in whatever he found. The economic conditions of those times were not helpful either and therefore, something as simple as choosing what to wear was impossible.
His partner, Andrea Di Stéfano, a woman who injects him with strength and pushes him to get ahead, confessed that just when he grew up he was able to know what it was like to choose what clothes to wear and what shoes to wear. “He didn’t know what flip flops was, he had never gotten a pair of his number. Seeing him put on a shirt for the first time and the look on his face was exciting,” she detailed.
Something similar happened when he went to live with his wife. At that time he had the chance to adapt the house to his needs. Until then, Daniel had no choice but to bathe in two stages due to the discomfort caused by the height at which the shower was located. “Perhaps one does not realize these things, because they are small, but for people like Daniel they make a big difference,” added Andrea.
Despite imposing a presence due to its large size, surprisingly shyness wins over the protagonist who made a significant effort to sit in front of a camera and tell his story. It is that his objective, according to him, is to be able to help make his rare pathology known, that those who have it know where to go and how valuable it is to find a team of professionals who attack the symptoms.
He asserted that due to malpractice and inadequate treatment he lost an eye and, despite the fact that this is not reversible, he stated that if his testimony serves to prevent the same thing from happening to others, then his effort will have been gratifying. Meanwhile, in what is to come, he admitted that he thinks positively and, when asked regarding how he saw himself in the coming years, his response – clinging to hope – was literal: “I hope to see me.”
Marfán, one of the EPOF
Rare diseases (EPOF) are those that affect a limited number of people with respect to the general population, which often translates into a lack of specific policies that protect patients. Marfan syndrome is one of those pathologies.
The last day of February of each year, World Rare Diseases Day is commemorated in order to raise awareness and promote the development of policies that guarantee access to health and other rights of people who suffer from them.
That is why organizations were created that link patients of this type. One of the best known is the Argentine Federation of Rare Diseases (FADEPOF), with which the protagonist of the story and his wife maintain permanent contact.
The Argentine Marfan Association (AMAR) was founded around the disease, which was specifically dedicated to researching the disorder.
