Rare Disease Associations Fight for Better Patient Health Care

    • On Saturday, February 29th, CENTOGENE, OMER, and ALIBER will celebrate International Rare Disease Day with an event for patients, healthcare professionals, and advocates to shine a spotlight on rare diseases.
    • 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 28, 2020: More than 300 participants will gather on February 29, 2020 at the Hotel Marriot Reforma in Mexico City to raise awareness and build community for all those affected by rare diseases. Patients, their families, patient associations, scientists, and medical specialists will share their experiences and discuss the most recent studies, diagnostic options, treatments, and areas of cooperation.

"The importance of rare disease patient associations cannot be stressed enough. They not only put valuable efforts into making these diseases and the problems of affected people more visible, but also are highly involved in setting up patient registries as well as driving research and therapy development cooperations." says Dr. Jordi Pérez López, Rare Disease Specialist and Head of Patient Advice and Liaison unit at CENTOGENE.

One of the most important tasks of patient organizations is to inform and train primary care physicians, so that they learn to detect the various conditions connected to these diseases. Many patients are children, and it is essential for their development to receive an accurate diagnosis at an early age. At the moment, many of them are typically between 10 and 15 years when they finally receive a precise diagnosis.

In Mexico, the first step in diagnosing a rare disease is neonatal screening, which by law, is required for all newborns in the country. Currently, patient organizations and many physicians are lobbying to also include more treatable metabolic disorders in the screening to ensure a diagnosis at the earliest possible point and enable time-sensitive, life-saving treatments.

"Grupo Fabry is dedicated to providing patients with access to first-line treatment," says Alejandra Zamora, National Coordinator of Grupo Fabry de Mexico's Patient Program. "Our main challenge is for the patients to be provided with what they should be entitled to: an early diagnosis and proper treatment. At the same time, we are working to support doctors in getting the information they need to treat the patient in accordance with international medical guidelines."

The Mexican Organization for Rare Diseases (OMER) was established in 2010 as an umbrella organization for Mexican rare disease self-help groups with the mission to connect all these associations. OMER is seeking to give a voice to rare disease patients and support them as they strive for the best quality of life and proper medical care. This implies connecting local and federal authorities as well as all those involved in public health structures. Currently, OMER consists of 30 patient associations, among them MPS Jajax AC and Grupo Fabry de Mexico.

"We must strive to form a single front, where we are collectively able to push for better quality medical services, access to diagnosis, and therapies to significantly improve patients’ quality of life. This has always been our goal," says Dr. Jesus Navarro, President of OMER. "I invite you to join us in this effort to give a voice to rare disease patients and their families in Mexico, to defend, protect, and promote their rights, and to be a source of information as we advise, inform, and support patients, groups, and associations - helping them to to prevent and care for rare diseases."

More information can be found online.

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