Waardenburg, Zlotogora, and Kabuki may initially make one think about remote and paradisiac destinations, but they refer to something more obscure and cruel: rare diseases. Rare diseases often receive tongue twisting names and are little known to most people, but they affect millions of patients throughout the world. There is not a consensus for how many people a disease must affect in order to be considered a rare disease; in Colombia, any disease affecting less than one patient per 5,000 receives that designation. Their etiology is varied, and they can have genetic, degenerative and infectious causes, among others. Patients affected by such diseases face a myriad of challenges, such as the lack of awareness and knowledge about the diseases, lack of effective treatments and specific diagnostic tests, high cost of the medicines, loss of independence, and the social stigma that comes with them. Patients struggle for many years to receive a diagnosis, and when they do, there are often not treatments, or they simply cannot afford them. In the most recent years the awareness and visibility of rare diseases has increased, and governments have started to create regulations to fill the existing void.
In Colombia, it is estimated that approximately 14,000 people live with a diagnosed rare disease, although it is likely that there are many more undiagnosed patients. Among the most common diseases are myasthenia gravis, congenital deficiency of Factor VIII, Von Willebrand disease and cystic fibrosis. As with many countries, specific regulations for rare diseases in Colombia are still recent. It was not until 2010 that rare diseases were legally recognized as diseases of special interest, and that the country adopted measures aimed at guaranteeing social protection to the Colombian citizens suffering from such diseases. Following a period with some advances, including a census on the number of patients with rare diseases, 2015 saw several measures taken in order to improve and guarantee the access of patients to healthcare. The Statutory Health Law was approved, making the access to healthcare a fundamental right. This law introduced several modifications to the Colombian Health system, and brought hope to patients suffering from rare diseases and families – the access to treatments still in development and to treatments not yet registered in the country became allowed, something that was not possible under the previous regulations. Likewise, a system for the monitoring and tracking of rare diseases was put in place, more than 200 diseases were added to the list of rare diseases recognized by the government, and the benefits plan in the public system, the POS, was updated to include several diagnostic tests specific for rare diseases. Also in 2015, the Mercosur, an important economic bloc in Latin America, created a platform for the joint acquisition of high cost medicines, including those used for the treatment of rare diseases. Even though Colombia is not part of Mercosur, the joint purchases are open to any country that wishes to participate, and they represent an opportunity to obtain high-cost medicines with significant discounts.
Despite the improvements in the access to healthcare, not all is roses for patients with rare diseases. Adding to the intrinsic challenges that rare diseases present, the Colombian healthcare system and societal characteristics also present its own challenges. Despite serving nearly 97% of the population, its physical and professional capacities are very asymmetric throughout the country – the best hospitals and specialists are concentrated around the bigger cities, and the rural areas are less well served – which has impacts in the access to diagnosis and treatment. The level of education and the economic capacity of the population follow a similar pattern, with the rural populations being the less educated and more disadvantaged. The high cost of many of the medicines used for the treatment of these diseases also represents an access barrier for patients, since many treatments are not covered by the benefits plan, or private insurance, which forces patients to pay for them. Adding to this, and despite the existence of regulations determining which entity has to pay for the services and treatments, health-promoting organizations frequently refuse to make the payments, forcing patients to seek help through lengthy judicial actions, the tutelas – in March 2015, it was estimated that 90% of the patients with rare diseases in Colombia used this mechanism to access care. The lack of a widespread infrastructure capable of providing support to patients and families, makes it common that someone in the family has to stop working to care for patients, which not only impacts the family economy, but also the society.
The Colombian public healthcare system is expected to go through significant changes in the upcoming years that should, in paper, translate into a better access to treatments, including those for rare diseases. How well the transition from paper to reality will go will depend on political will and the economic capacity of the country to meet the increasing demands. Despite the challenges, thousands of patients look to the future with optimism, and they see a light at the end of the long tunnel that is their battle.