These are some of the challenges faced by those dealing with rare diseases. Javier Pardo Adeva, a 26-year-old man living with Kearns-Sayre syndrome, a neurodegenerative mitochondrial disease, is one of those individuals. Javi shared his story about living with this rare disease and how he has adapted to the challenges it presents.
Javi wakes up every morning to the sound of Rocky’s music, a reminder of his determination to pursue his passion for boxing despite the limitations imposed by his illness. Javi was diagnosed with Kearns-Sayre syndrome at the age of 12, and since then, he has had to adjust his life to accommodate the changes brought on by the disease.
Like Javi, many individuals with rare diseases face long waits for a diagnosis and inadequate support and treatment. The lack of knowledge about these diseases among healthcare professionals compounds the challenges faced by patients and their families. The cost of necessary health products and the discrimination experienced in various areas of life add to the burden placed on those dealing with rare diseases.
Amidst these challenges, organizations such as Feder (Spanish Federation of Rare Diseases) and the Ana Carolina Díez Mahou Foundation have emerged to provide much-needed support and guidance to individuals and families affected by rare diseases. These organizations offer information, advice, and a sense of community to those who often feel isolated and marginalized by society.
Nuria, the mother of Javi, shared her experience of supporting her son while also facing the uncertainties and emotional toll that come with having a child with a rare disease. She emphasized the importance of self-care and personal well-being, urging others in similar situations to find time for themselves amidst the challenges they face.
Javi’s story sheds light on the resilience and determination of individuals living with rare diseases, as well as the need for greater awareness, understanding, and support for those affected. Despite the adversities they face, people like Javi continue to live life to the fullest and strive to overcome the limitations imposed by their conditions.