- On the occasion of International Rare Disease Day on February 29th, the Iberoamerican Alliance for Rare, Orphan, and Infectious Diseases (ALIBER), the Mexican Organization for Rare Diseases (OMER), and CENTOGENE hosted patients and their families as well as patient advocates and healthcare professionals from all over Latin America.
- A rare disease is an illness that affects less than 5 in 10,000 people. Collectively, more people are affected by rare diseases than from cancer and HIV combined.
- It is estimated that almost 8 million Mexicans suffer from a rare disease, which equals 5% of the population.
- There are around 180 active rare disease patient associations in Mexico.
Mexico City, February 29, 2020 - More than 300 participants gathered on Saturday at Hotel Marriot Reforma in Mexico City to raise awareness about rare diseases on International Rare Disease Day. Patients, affected families, international patient associations, scientists, medical specialists, and representatives from the private sector shared experiences and discussed studies, diagnostic options, treatments, and areas of cooperation.
The event served as a platform to discuss the role of patient associations and their valuable contributions to ensuring rare disease patients have access to early and adequate diagnostic methods as well as to discuss the development of new therapies and the potentials of social media as well as new technologies in the field.
"There is still a significant delay in diagnosis and access to specific treatments for rare disease patients. In many cases, it takes more than 10 years from the onset of symptoms to an accurate diagnosis. This can lead to irreversible damage and sequelae," said Prof. Dr. Atul Mehta, Head of the Hematology Service at the Royal Free Hospital in London. "One important path to shortening the diagnostic odyssey is to expand neonatal screenings and include rare diseases, in particular those for which treatments are already available today. As a first-line diagnostic tool, neonatal screening provides a unique and extremely valuable opportunity to act in the best interest of our patients," added Dr. Juan Inés Navarrete, Head of the Genetics Department, Hospital Central del Sur de Alta Especialidad in Mexico City.
Representatives of patient associations from Mexico, Brazil, Peru, Ecuador, and Spain as well as medical experts and representatives of the biotechnology and pharmaceutical industries engaged in vivid and fruitful exchanges around a number of highly important topics. "The small number of rare disease patients with a verified diagnosis and their geographical dispersion pose serious obstacles to clinical studies. Patient associations can play an important role in overcoming these hurdles as they engage in setting up national patient registries and facilitate cooperation with researchers and the pharmaceutical industry on clinical trials and therapy development," stressed Karla Luis de Castilla, Director of the ESPERANTRA patient organization in Peru.
The role of social media and new technologies in improving health care and quality of life for these patients, including telemedicine and the use of applications on mobile phones, was also discussed. "The use of mobile phone applications by patients constitutes an important empowerment in the comprehensive management of many rare diseases. Patients can manage their appointments, provide quality of life data, monitor their own clinical developments ─ all things that are very helpful for doctor – patient communication," emphasized Dr. Jordi Pérez López, rare disease specialist and Head of the Patient Liaison and Advisory Unit at CENTOGENE.
"The event has really highlighted the role of patient associations in the improvement of care for rare disease patients. At the same time, it has allowed us to see how much there is still left to do. Patients, doctors, researchers, legislators, and the pharmaceutical industry need to unite their efforts to achieve the best outcomes possible," concluded Dr. Jesus Navarro, President of OMER.
The event in Mexico City wrapped up CENTOGENE’s global Rare Disease Day Initiative 2020 that started in Lahore, Pakistan and continued to Berlin, Germany before ending in Latin America.
More information can be found online.