72% of rare diseases are genetic in origin. More than 75,000 people suffer from some in the Canary Islands (almost 4% of the population) and two out of every three pathologies appear before the age of two. These are some of the headlines that this week has left the only forum dedicated to this topic that has been held in the Canary Islands for 12 years and that makes Granadilla de Abona the speaker of patient associations and a meeting place to learn about the latest advances on the lines of action and research.
But, beyond the data, the meeting held in San Isidro also allows us to learn first-hand experiences of struggle and suffering, stories of pain and overcoming, confessions of heroes and heroines who ‘ruminate’ in solitude or in family on their personal ordeal, aggravated in most cases by a delay in diagnosis that can reach 10 years.
They are stories like that of Obdulia Falcón, president of the Association of Neuromuscular Diseases of the Canary Islands (Asenecan), a carrier of muscular atrophy that she has transmitted to two of her three children, diagnosed in 2004 with Duchenne muscular dystrophy.
“Love, patience and courage”, recommends to anyone who goes through what has happened to her and her family. “This is a constant mourning, but every day that passes we cheer ourselves up,” he emphasizes, as he confesses that his sons Pablo and Adrián were given 15 years of life. One has already passed his twenties and the other is approaching that age. “Maybe I will go first,” says his mother, who boasts of the ability that both show for the study.
Obdulia rebels every time she hears the phrase “there is nothing to do” and especially when a sentence reached her ears for the first time that still hurts her today: “You are going to lose your children prematurely.” All three have participated in a “multitude” of medical trials, “traveling a lot to Barcelona”. “Hopefully, if they don’t serve my children, they serve others.”
Despite everything, the president of Asenecan does not lose her ability to fight or the reasons to get excited every time the sun rises. “There is nothing better in this world than giving oneself out of love, and to those who suffer from a rare disease I tell them, from the hardness of knowing that we have no cure, that in life we should never give up, under any circumstances.”
Maby García (in the attached image) is another example. She has been dealing every day for years with a disease that eats away at her lungs with an almost unpronounceable name: lymphangioleiomyomatosis. “They call us the women of the air,” he jokes. She is one of the 200 people diagnosed in Spain with a disease that affects women of childbearing age. The detection average is around 35 years after a study period that can take seven years to certify the origin of the lung cysts that prevent normal breathing. Maby defends that patients are grouped in associations to “pressure” to demand more funding for research.
“I had time to give birth to a girl, but we are forbidden to have children,” she explains, while pausing to take off her mask and take in the air she lacks. “To donate is to love” is the motto of the national association AELAM, of which it is a vocal member, and it emphasizes it by ensuring that “all lung transplants have gone well.” But he leaves his best phrase for last: “The disease knows which women to choose: we are fighters.”
The psychologist Verónica Doval, who specializes in the care of patients with infrequent pathologies, points out that this type of medical condition not only affects self-esteem and affects the work, social and family areas, but also opens the door to anxiety and anxiety. depression.
After a feeling of denial, expressed through fear, anger, guilt and sadness appear, in this order, until leading to acceptance, which he defines as a “key phase to live with the diagnosis, since it is to understand that there are circumstances that do not depend on us; at that moment, the patient takes control of his illness ”, he explains. Doval argues that “blaming yourself is never the way” and that a positive attitude is essential: “Acceptance is wisdom that leads us to learning, it is the master key to enter a new lifestyle.”
Juan Carrión, president of the Spanish Federation of Rare Diseases (FEDER), highlights the “need of patients to feel heard” and points out that at least half of them have suffered a delay in diagnosis due to ignorance of the pathology. In addition, he regrets that the pandemic has caused a “serious interruption” in the care and care of the sick and calls for more investment “to give greater impetus” to the investigation. In this sense, he describes the associative movement and its vindictive character as a “necessity”, which in Spain has experienced a notable leap, going from 6 associations in 1999 to a total of 384 today.
The Canary Islands began in 2011 the development of the current Rare Diseases Registry and has two care units in Tenerife and Gran Canaria. The next challenge is to activate a comprehensive plan that allows setting the roadmap for the next five years with the aim of “guaranteeing a complete approach to people with a diagnosis or suspected of rare disease and promoting early detection”, indicates Francisco Javier Afonso , a technician from the General Directorate of Assistance Programs of the Canary Health Service, who insists on a message: “The global vision is key.” More than 40 professionals and 8 external reviewers have been involved in the development of the plan, structured in 7 strategic lines, 16 projects and 64 measures, including reinforcing the commitment to genetics and rehabilitation units.
Beatriz Layosa, social worker of the Oliver Mayor Canary Foundation against Cystic Fibrosis, celebrates the recent inclusion, on December 1, of the drug Kaftrio in the portfolio of the National Health System, which “will bring as a more important consequence the departures in the transplant lists, ”he says. Health statistics indicate that one in 10 people living with cystic fibrosis has undergone a lung transplant.
The forum dedicated to the infrequent diseases of Granadilla de Abona also included the interventions of Viviana Alonso, delegate in the Canary Islands of the National Association of People Affected by the Meowing Cat Syndrome; Beatriz Escobar, social worker of the Hemophilia Association in Santa Cruz de Tenerife; María Pino Brumberg, president of Stop-Fa Ataxia de Fiedreich, and María Elida Medina, a neighbor of the municipality and self-taught painter who suffers from optic neuromyelitis, author of the painting on the poster of the day. All demanded more support and greater awareness with those affected and their families.
For their part, both the Mayor of Granadilla de Abona, José Domingo Regalado, and the Councilor for Health Promotion, María de la O Gaspar, highlighted the importance of the forum as a meeting point and space to update information by the associative movements.
In addition, both highlighted the municipal services aimed at protecting health, among which they cited physiotherapy sessions for patients with breast cancer, fibromyalgia and chronic fatigue or the ‘Abeona’ program, a specialized intervention aimed at the youth population with health problems. addiction.