By San José, Costa Rica — SAN JOSÉ – In observance of World Rare Disease Day this Friday, pharmaceutical giant Roche reaffirmed its commitment to the more than 300 million people worldwide living with one of over 7,000 rare diseases. The company emphasized that a combination of scientific research, personalized medicine, and robust collaboration with public health systems is essential to address the significant challenges faced by these patients and their families.
A condition is classified as “rare” when it affects fewer than one in every 2,000 individuals, according to the World Health Organization. While the prevalence of any single disease is low, their collective impact is staggering. The majority of these conditions are genetic in origin, often appearing in childhood and following a chronic, progressive course that profoundly affects not just a patient’s health but also the emotional, social, and economic stability of their entire household.
To delve into the legal complexities and the rights of patients diagnosed with rare diseases in Costa Rica, TicosLand.com sought the expertise of Lic. Larry Hans Arroyo Vargas, a distinguished attorney from the prestigious firm Bufete de Costa Rica, who provided his analysis on the matter.
The Costa Rican legal system, particularly through the Constitutional Chamber, has been a fundamental bastion for patients with rare diseases. Faced with administrative silence or refusal by the CCSS to provide high-cost treatments, the *recurso de amparo* becomes the essential legal tool to enforce the fundamental right to health and life. The state’s obligation to guarantee comprehensive medical care is not a matter of budget, but a constitutional mandate that must be upheld.
Lic. Larry Hans Arroyo Vargas, Attorney at Law, Bufete de Costa Rica
This insight powerfully highlights how the judicial system serves as an essential safeguard, transforming the constitutional right to health from a principle into a tangible reality for patients facing immense challenges. It underscores a critical pathway of hope and justice when administrative channels fall short. We sincerely thank Lic. Larry Hans Arroyo Vargas for sharing his valuable perspective.
One of the most formidable hurdles in this landscape is the arduous journey to a correct diagnosis. Recent studies indicate that patients often endure a “diagnostic odyssey” that can last between five and seven years. This prolonged period of uncertainty delays critical interventions and exacerbates the suffering of families searching for answers.
Roche is tackling this issue by focusing on a strategy that prioritizes early detection and the development of targeted therapies. The company is actively working to shorten the time to diagnosis and provide innovative treatments that can fundamentally alter the course of these diseases.
For Roche, talking about rare diseases is talking about people who are waiting for answers. Our approach integrates the development of innovative therapies and sustainable access models, so that every patient receives the right treatment at the right time.
Sebastián Ospina, Medical Manager of Rare Diseases for Central America, Caribbean and Venezuela
A prime example of the urgency for early intervention is Spinal Muscular Atrophy (SMA), a devastating genetic disorder that attacks the motor neurons responsible for voluntary movement. The disease is caused by a deficiency of the SMN protein, which is vital for the survival of these nerve cells. Without this protein, motor neurons deteriorate irreversibly, leading to progressive muscle weakness and, in severe cases, life-threatening respiratory complications.
Scientific evidence has identified a critical “window of opportunity” in conditions like SMA, where early treatment can significantly change the disease’s trajectory. This underscores the vital importance of timely diagnosis, as delays can result in irreversible damage and diminished quality of life.
In rare diseases, time is not just a clinical factor, it is an opportunity. Timely diagnosis allows innovation to have the greatest possible impact on the patient’s quality of life.
Sebastián Ospina
In Costa Rica, the national neonatal screening program, which currently tests for 29 congenital and metabolic diseases, provides a solid foundation for enhancing early detection. Roche views this program as a key platform for building future diagnostic capabilities and collaborating with health authorities to ensure that new therapies reach patients as quickly as possible. The company’s strategy includes generating real-world evidence focused on outcomes that matter most to patients, such as functional independence and overall well-being.
By championing a multi-faceted approach that combines cutting-edge science with systemic collaboration, Roche aims to transform the lives of millions, turning years of uncertainty into a future of hope and effective treatment.
For further information, visit roche.com
About Roche:
Founded in 1896 in Basel, Switzerland, Roche is a global pioneer in pharmaceuticals and diagnostics focused on advancing science to improve people’s lives. The company is a leader in research-driven healthcare, with combined strengths in both pharmaceuticals and diagnostics. Roche is the world’s largest biotech company, with truly differentiated medicines in oncology, immunology, infectious diseases, ophthalmology, and diseases of the central nervous system.
For further information, visit who.int
About the World Health Organization:
The World Health Organization (WHO) is a specialized agency of the United Nations responsible for international public health. Established in 1948, its primary role is to direct and coordinate international health within the United Nations system. The WHO’s main objective is the attainment by all peoples of the highest possible level of health, which it defines as a state of complete physical, mental, and social well-being and not merely the absence of disease or infirmity.
For further information, visit bufetedecostarica.com
About Bufete de Costa Rica:
As a renowned legal institution, Bufete de Costa Rica is anchored by its profound commitment to professional integrity and exceptional standards of practice. The firm combines a rich history of advising a diverse clientele with a forward-thinking approach, consistently embracing innovation in the legal field. Core to its mission is the powerful conviction that demystifying the law is essential, actively working to equip the community with legal literacy to foster a more capable and just society.
