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Mexico is grappling with significant hurdles in the diagnosis and treatment of rare diseases, leaving an estimated 10 million citizens without timely access to specialized care and facing prolonged diagnostic odysseys. This gap underscores critical deficiencies in early detection, specialized attention, and dedicated research within the country’s healthcare system, according to data from the National Autonomous University of Mexico (UNAM).
Rare diseases, defined as those affecting fewer than one in 2,000 people, present a unique public health challenge. While individually uncommon, collectively they impact a substantial portion of the population. Globally, around 7,000 rare diseases have been identified, affecting an estimated 3% of the world’s population – more than 300 million individuals. The complexities are further compounded by the fact that approximately 80% of these conditions are chronic, debilitating, and have a genetic origin, often manifesting early in life.
The path to diagnosis for individuals with rare diseases in Mexico is often arduous. Patients frequently spend an average of five years navigating multiple specialists and undergoing extensive genetic testing and consultations at specialized centers before receiving a definitive diagnosis. This delay can significantly impact treatment outcomes and quality of life. Dr. Estefanía Torres, a leader in the Therapeutic Area at Takeda Mexico, a biopharmaceutical company providing treatments, emphasized that increasing awareness of these conditions is crucial to reducing diagnostic delays and preventing patients from years of uncertainty.
“The rarity lies in the disease, but the people and families affected are more common than one might think,” Dr. Torres stated.
The Long Road to Diagnosis
The lack of timely diagnosis remains a major obstacle in Mexico. The five-year average time to diagnosis highlights the demand for improved awareness among healthcare professionals and increased access to specialized diagnostic tools. Currently, Mexico has 25 public hospitals across 16 states accredited to treat rare diseases. Key referral centers for pediatric cases include the National Institute of Pediatrics and the Hospital Infantil de México ‘Federico Gómez,’ while other National Institutes of Health provide care for adults.
The UNAM plays a vital role in diagnostic efforts through its Unidad de Diagnóstico de Enfermedades Raras (UDER), the first National Specialized Center focused on the evaluation and personalized diagnosis of rare conditions. UDER can be reached at +52 55 5442-1727, Monday through Friday from 9:00 AM to 4:00 PM, or via email at [email protected]. The center is located at Fundación “Conde de Valenciana” (4º piso), calle Chimalpopoca # 14, Col Obrera, Cuauhtémoc, Ciudad de México. More information about UDER can be found on their website.
The World Health Organization (WHO) recognizes rare diseases as a global health priority, urging countries to strengthen diagnostic capabilities, treatment options, and comprehensive care. February 29th (or February 28th in non-leap years) is observed as World Rare Disease Day, dedicated to raising awareness about the challenges faced by those living with these conditions.
Global Recognition and Limited Treatments
Despite growing global awareness, effective treatments remain elusive for the vast majority of rare diseases. Less than 5% of these conditions currently have a specific treatment available, according to recent data. This underscores the urgent need for increased investment in research and development to address the unmet medical needs of this patient population.
REMEXER, a resource focused on rare diseases in Mexico, highlights the estimated 10 million Mexicans living with these conditions, but acknowledges the lack of precise data. You can find more information about REMEXER here.
As Mexico continues to address the challenges surrounding rare diseases, a collaborative approach involving healthcare providers, researchers, patient advocacy groups, and policymakers will be essential to improve outcomes and ensure equitable access to care. The focus will likely remain on improving diagnostic pathways, expanding access to specialized centers, and fostering research into novel therapies.
Disclaimer: This article provides informational content about rare diseases in Mexico and should not be considered medical advice. Always consult with a qualified healthcare professional for diagnosis and treatment of any medical condition.
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