Imagine going to the doctor with a cough, only to be told that you have a rare disease that affects only 200 people in the world. You might feel like you’re the only one dealing with this, but you’re not. In fact, there are an estimated 30 million people in the United States alone who are living with a rare disease.
What is a Rare Disease
A rare disease is a disease that affects a small percentage of the population. It can be difficult to diagnose because it is so rare. Oftentimes, patients and experts are scarce while also being geographically scattered. Furthermore, rare diseases are relatively unknown, with knowledge and good practices being limited. This is because there is little to no scientific research done on them. This, coupled with the fact that funding is already so scarce, means that most rare diseases have no cure. This is unfortunate given that most rare diseases have a significant impact on the quality of life for those who suffer from them.
Challenges of Living with a Rare Disease
While the challenges of living with a rare disease vary depending on the individual and the severity of their condition, there are some common struggles that many people face, no matter where they live or what they are suffering from. Here are just a few of them.
1. Finding accurate information can be difficult.
When you have a rare disease, it can be hard to find accurate information about your condition. That’s because there is often little to no research available on rare diseases. And even when there is research available, it can be outdated or conflicting. This can make it difficult to get an accurate diagnosis and develop an effective treatment plan. In addition, experts on rare diseases are so few and far in between that you may have to fly to another country just for an examination and accurate diagnosis. This leads to the next problem.
2. Treatment can be expensive.
Treating a rare disease can be very expensive, especially if it involves traveling to another country. This is something that keeps people living with a rare disease (or PLWRD) from third-world countries from getting treatment. Even if you’re from a first-world country, having to travel to another country and secure accommodations to last your whole visit can rack up a huge bill.
Secondly, treatment even inside the US can get expensive because there might be no FDA-approved treatment for your condition. Even if there is an FDA-approved treatment, it may not be covered by insurance or may only be available through clinical trials. This can make affording treatment difficult or impossible for some people. One example is the treatment for a rare blood disorder called beta thalassemia. Even though the treatment for it has been approved by regulators recently, it still costs way more than most people are worth—treating it requires a drug called Zynteglo, and sessions cost around $2.8 million each.
3. There is often little support available.
For one, many rare diseases are undiagnosed or misdiagnosed because of lack of knowledge. Some PLWRDs succumb to their disease or its complications before knowing what it is. This is because rare diseases are often genetic and manifest in early childhood. In addition, most systems in a child’s life (like schools) are not suited for detecting rare diseases and helping PLWRDs live with them. This can lead to isolation.
People with rare diseases often feel isolated because they know so few others who are dealing with the same thing. This lack of support can make it difficult to cope with both the physical and emotional challenges of living with a rare disease.
In addition, there is often a lack of community and financial support for rare diseases. For one, a rare disease can strip a family of its money and resources because of the upkeep and medical care needed to keep a PLWRD alive. Supporting a PLWRD can drive a family to debt and poverty. It is hard to get community support for a PLWRD too because of a lack of knowledge and awareness. People are simply unaware of conditions because of the lack of research about it, which circles back to a lack of resources. It is a vicious, self-perpetuating cycle.
Living with a Rare Disease
There are a few things that people living with a rare disease can do to make their life better. First, they can educate themselves as much as possible about their condition. Because of the internet, it is much easier now to reach out to experts and online communities of others with the same condition. You can look for these communities through services like RareConnect. There are even companies that muster patients with rare diseases in order to get their opinions and perspectives for medical companies.
People living with a rare disease can also seek out financial and community support from organizations that specialize in rare diseases. Some of these include EveryLife Foundation and the National Organization for Rare Diseases.
Finally, they can spread awareness by producing content about their condition and posting it online. Some people make YouTube videos, Twitter posts, and TikTok clips about their condition and how they live, and these help in gaining community support or even funding. In addition, if you know that there are people who are about you, it can help you stay positive and hopeful, even in the face of difficult challenges.
If you or someone you know has been diagnosed with a rare disease, know that you are not alone in your struggle. There are millions of others who are facing similar challenges. While living with a rare disease can be difficult, there are organizations and resources available to help support you on your journey.