While rare diseases are uncommon, there are a multitude of them. In the US, there are approximately 7,000 diseases that are considered to be rare. It is approximated that there are nearly 300,000,000 patients around the world who are diagnosed with a rare disease. In the US, a rare disease is defined as any disease that affects fewer than 200,000 Americans at any given time.

What are the obstacles facing people living with rare diseases?

  • Many rare diseases are not understood because they have not been researched very well. Funding for research trials is often not granted to diseases that don’t affect many people. So, the prospects of understanding these diseases does not look to improve any time soon.
  • There are no treatments available for many of these diseases. Much of this is explained for the reason stated above: there is simply not much time or money spent in examining possible treatments for these diseases.
  • Diagnosing these diseases are often delayed. While most healthcare providers are aware of these uncommon diseases, they may have never seen an actual patient who had this disease. We are taught to look for the most common causes first and the work-up can be prolonger and protracted. Rare diseases often take months or even years to be diagnosed. In the meantime, the patient is left not knowing what is wrong with them. This lack of knowing exacerbates their suffering. Many people cast blame on doctors and the medical professionals. But, it is a lofty expectation to assume a medical professional will be able to diagnose a rare condition right off the bat. We simply do not see enough of any given rare disease to be able to do that though I wish that we could.
  • Insurance companies often don’t cover necessary diagnostic tests; they are deemed experimental and not medically necessary. I have spent weeks fighting for some diagnostic tests to be done and not always successfully. Rare diseases often need more specialized, and expensive, tests to be performed. Until insurance companies are called on the carpet and forced to cover these tests, rare diseases will continue to have delays until diagnosis.
  • When a rare disease is diagnosed, the treatment is often not covered. The news is out that there is a brand new therapy available to treat certain types of muscular dystrophy. While it gives hope to patients suffering this disease, the price tag is nearly $100,000 annually. Few insurance companies will volunteer to cover this cost. These patients have a tough battle ahead to try to get access to this medication. Insurance companies will say that it is simply not a covered medication. But, this price tag requires a full time job, or two, just to pay for it.
  • There is also a lack of advocacy and resources for rare disease patients. We see a plethora of educational materials for common diseases like diabetes and heart disease. However, rare disease patients have few, if any, avenues to learn more about their diseases. While we see more advocacy groups popping up all the time, it is still not enough. These patients do not have many sources to go to for knowledge and/or help.

While some diseases are rare, rare diseases in totality are not so uncommon. However, those suffering from them are sentenced to a much more difficult time getting diagnosed and treated. For many, no treatment exists in our current medical knowledge, especially for genetic disorders. For many, being diagnosed is better than not knowing. It is imperative that more education is developed so healthcare providers have an easier time diagnosing diseases, especially those they have never seen before. Also, more funding needs to be given to research and clinical trials in order to improve the medical understanding of these disorders. Insurance companies need to be called to cover what is necessary to help not just rare disease patients, but all patients. Treatments need to be discovered and implemented for those suffering. Lastly, we must continue to instill hope, that no matter how dark the outcome may seem, there are still people hard at work to find the cure and there will always be those who continue to care.

Want to find more about PlatformQ Health’s commitment to providing education for clinicians treating and families facing rare diseases? Learn about our partnership with the National Organization for Rare Disorders

About the Author

Linda Girgis MD, FAAFP is a family physician practicing in South River, New Jersey. She was voted one of the top 5 healthcare bloggers in 2016. Follow her on twitter @DrLindaMD.