2023-12-04 12:49:43
Like every morning, Rocky’s music bursts into the silence of Javi’s room.
Javi slowly gets out of bed with measured movements, aware of his body and its limitations. He suffers from Kearns-Sayre syndrome, a rare form of neurodegenerative mitochondrial disease. This disorder affects the mitochondria, responsible for generating energy in cells, leading to decreased motor ability and other systemic problems.
There is no drama in his awakening, just the routine of someone who lives with a condition that requires him to adapt every day and who faces his reality with the determination and firmness of someone who knows his situation and moves forward aware that it is the life that has given him He has touched life and is willing to live it without anyone telling him how to do it. Choosing the melody for your mobile alarm is not a coincidence. Seven years ago, a classmate of Javi’s at school made fun of him when he found out that he wanted to learn boxing. “You will be the one who would receive the blows from the bag, not the bag,” he told her, laughing. Javi never forgot that phrase and since then he wakes up every morning to Rocky’s music.
Madrid, Spain – November 21, 2023: Javier Pardo Adeva during one of his Boxing training sessions with his friend José at the Feijoo gym in Madrid. Javier suffers from a rare disease: Kearns-Sayre syndrome, a rare form of neurodegenerative mitochondrial disease. This disorder affects the mitochondria, responsible for generating energy in cells, leading to a decrease in motor capacity and other systemic problems Álvaro Ybarra Zavala
Javi, who is now 26 years old, was born without any signs that would reveal his illness. It was later, when he was still a child, when the diagnosis came and his life changed from one day to the next. «I was twelve years old and I noticed that something was not right. Little by little I began to lose autonomy and my life changed. Before the diagnosis, my life was, so to speak, normal, they called me to go to birthdays, to friends’ plans, but following they diagnosed me with the disease they stopped calling me,” Javi tells us while he finishes getting ready.
«When you are diagnosed with a disease like mine, it changes your life forever»
Today, Javi, like every Tuesday and Thursday of each week, has boxing training with José, his friend and personal trainer for seven years. Boxing for him is more than a sport; It is a constant demonstration to himself that, despite the limitations imposed by his illness, he will always find a way to overcome them. Every hit on the bag, every workout, is an act of rebellion and an affirmation of Javier’s capacity in the face of the limits and oblivion that society in general imposes on those who suffer from some type of disability due to a rare disease. «When you are diagnosed with a disease like mine, it changes your life forever. However, if I had to say something to someone who has just been diagnosed with a neurodegenerative mitochondrial disease, I would tell them that life is not over, that they have a lot to live and that they are still a normal person like anyone else no matter how hard they are. Society wants to tell us otherwise,” he says.
Javi does not deceive himself or anyone else with false optimism. He is fully aware of the reality of his illness but, nevertheless, he does not give up a full life and his deepest desires, as he himself assures: “I would love to meet someone and fall in love, have a girlfriend, create a family and have children”. But just as he is not afraid to look to the future and face the challenge of his dreams, the future also reminds him how vulnerable his situation is to the disease. «My biggest fear is loneliness. Loneliness when I’m older and the people who love me are no longer with me scares me. Given the limitations to my autonomy caused by my illness, being alone without having anyone to take care of me is something that worries me, I cannot deny it.
Madrid, Spain – November 21, 2023: Javier Pardo Adeva takes his blood pressure in a pharmacy in Madrid near his home Álvaro Ybarra Zavala
In Spain, the reality of rare diseases presents a complex, if not bleak, panorama. A patient with a rare disease waits on average 4 years to obtain a diagnosis, and in 20 percent of cases, this process extends more than a decade. During this time of uncertainty, many patients do not receive adequate support or treatment, and in some cases, their condition worsens.
Attention, another challenge
Healthcare for these diseases is another challenge. Almost half of patients are dissatisfied with the care they receive, and many consider the treatment provided to them to be inadequate. The lack of knowledge regarding these pathologies on the part of healthcare personnel contributes to this problem. Coverage of necessary health products is limited, and the costs often fall on the families of those affected, representing regarding 20 percent of their annual income. Furthermore, there is significant discrimination towards people with rare diseases. This discrimination manifests itself in several areas, from social relations to health care and education. Given the lack of adequate state care for rare diseases in Spain, numerous foundations and associations have emerged as a beacon of hope for these patients and their families. Organizations such as Feder (Spanish Federation of Rare Diseases), Fundame (Spinal Muscular Atrophy Foundation), Aepmi (Association of Patients with Mitrochondrial Pathology) or the Ana Carolina Díez Mahou Foundation play, like many others, a vital role in providing guidance and the support they so desperately need. These entities not only offer information and advice on diseases, but also become a community for those who often feel isolated and marginalized by society. «Our foundation has wanted to focus on what we consider to be the greatest need of families who live with a rare disease, which is support in therapies and rehabilitation and leisure activities that improve the quality of life of patients. and their families, the great forgotten ones,” says Javier Perez-Minguez Caneda, director of the Ana Carolina Díez Mahou Foundation.
“Life teaches you to expect success, not adversity”
Nuria, sitting in a chair in the garden of the Ana Carolina Diez Mahou Foundation, is wearing headphones while the sun hits her face. It is a moment of silence, of meditation, intimate, just for her, while her son Javi finishes his rehabilitation session at the Ana Carolina Diez Mahou Foundation. “No one prepares you for something like this,” she tells us. «Life teaches you to expect success, not adversity. And when they tell you that your child has a rare, incurable disease, you just can’t believe it. Denial envelops you completely, and it takes time, much more than days, to accept the new reality that you have had to live.
Madrid, Spain – November 24, 2023: Javier Pardo Adeva with his physiotherapist Elena, during a rehabilitation therapy at the Carolina Díez Mahou Álvaro Ybarra Zavala Foundation
Like many families who face this challenge, Nuria has had to change her life from one day to the next, immersed in uncertainty and loneliness. The lack of information at the time of diagnosis and the lack of knowledge regarding these pathologies on the part of health personnel turn this experience into a true hell.
Madrid, Spain – November 22, 2023: Javier Pardo Adeva walks supported by the arm of his mother Nuria Aveda through the gardens of Santander Park in Madrid Álvaro Ybarra Zavala
To face this reality, Nuria sought psychological help, essential support to accept and adapt to her new life. “We don’t need pity, we need people asking us: ‘what can I do for you,'” she says. And she adds firmly: «I am not a supermother, I am a normal mother who takes care of her son like any other. “Having a child with a rare disease does not make me special.” She insists on the importance of family members finding time for themselves, spaces for personal well-being and moments of leisure. «If one does not take care of oneself it is not good. And if one is not well, he cannot take care of anyone,” she says.
Madrid, Spain – November 22, 2023: Javier Pardo Aveda with his mother Nuria Aveda in a moment of tranquility inside their Álvaro Ybarra Zavala home
Nuria does not hide her fears either. The fear she feels is not related to economic aspects; This is a deeper concern. It focuses on the emotional emptiness Javi might experience when she and her loved ones are gone. “What will become of him when we are gone?” This concern reflects the fear of imposed loneliness, not only for Javi, but for many in his situation. “We are alone,” says Nuria, evidencing a harsh reality in a society that is often indifferent to the daily lives of people with rare diseases. Nuria’s fight is not only for the survival of her son, but for her right to a life full of affection and understanding in a world that, too often, seems to forget them.
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