Rare diseases affect up to six percent of the population.
Highlights:
- During the last decade, rare diseases have received more frequent coverage in the media.
- While rare diseases individually may be uncommon, they are prevalent when considered as a group of disorders.
- Many rare diseases have no known treatment, leaving patients feeling hopeless and frustrated.
- Education programs, increased awareness, better access to diagnostic tests, and employing innovative technologies are required to tackle these challenges.
- Increased research funding for these diseases paints a bright future.
During the last decade, rare diseases have received more frequent coverage in the media. Even a “Rare Disease Day” was created in 2008, choosing February 29 as it is an unusual day.
“Rare” is a misleading term since it directs people to suppose that these conditions may not significantly impact health because they are infrequent. But the truth is that while individually, each of the 7,000 to 10,000 rare diseases may be uncommon, they are prevalent when considered a group of disorders. Some authors even estimate that these conditions may affect as many as 6% of the world’s population.
The different alternatives to achieve a diagnosis and start treatment for people with these disorders are minimal. On top of that, people living with one of these conditions experience a diagnostic odyssey. This is a timely process where they live without a diagnosis and, therefore, without adequate treatment or management. This can take up to eight years in developed countries, leading to mismanagement of the condition, misdiagnosis, causing unnecessary suffering, and causing possibly new health problems.
In Mexico, the panorama is even more worrying. First, patients in this country take even longer to get a diagnosis as the healthcare system is disarticulated. Also, there is an increased out-of-pocket expenditure during the long diagnostic odyssey. For example, approximately 80% of rare diseases have a genetic cause. Therefore, to diagnose many of them, a genetic test is required. However, these have raised costs, so some patients cannot afford them. Although prices have decreased since the Human Genome Project, they’re still expensive for most patients. Another area for improvement is finding the appropriate physician to treat their condition.
There must be better collaboration between all the parties involved to tackle the previously discussed challenges.
People living the diagnostic odyssey find themselves trying to treat an “unnamed” condition. Often treating the symptoms rather than looking at the root cause. Even more distressing is that many rare diseases have no known treatment, which can leave patients feeling hopeless and frustrated. There must be better collaboration between all the parties involved to tackle the previously discussed challenges. This includes patients, healthcare professionals, and decision-makers. The solution lies in a multifaceted strategy.
First, creating education programs to increase awareness for these types of disorders. Healthcare professionals must have access to continuous medical education to think about zebras (rare diseases) and not only horses (common diseases). Another step that can further help decrease the diagnostic odyssey is employing artificial intelligence tools to help identify people with a suspicion of having a rare disease, help provide genes of interest to look for in each case and order adequate testing, decide what treatment to prescribe, and help discover new drug targets to develop much needed new medicines. Lastly, telemedicine can help close the gap around access to primary care and specialized doctors to ensure that patients can receive the care they need regardless of location.
Just last year, the first Rare Disease Diagnostic Unit was recently established.
In Mexico, there have been advancements. Just last year, the first Rare Disease Diagnostic Unit was recently established, allowing for the active search of rare diseases in the population. In addition, increased research funding for these diseases paints a bright future. A future with the potential to make a significant difference in the lives of those affected by one of these diseases. This will include better access to diagnostic tests, increased awareness, and the development of innovative technologies to improve their quality of life. We must continue to collaborate and support those affected by these conditions to continue making progress.
