Sometimes It’s a Zebra

Understanding the Top Three Challenges in Rare Disease Treatment and Advocating for Change

 In medical school many doctors are taught the old saying “when you hear hoof beats, think horses, not zebras”, which means that doctors should generally consider the most likely possibility first when thinking of a diagnosis.

But what do you do when it is a zebra?

What makes a disease rare? In the United States, the Orphan Drug Act defines a disease as rare if it affects fewer than 200,000 Americans or less than one in 2,000 people. A disease is considered ultra-rare if it affects less than one in 50,000 people.

Just how rare is rare? Although considered individually rare, there are approximately 7,000 rare (often called “orphan”) diseases that collectively affect 25–30 million Americans and more than 400 million people worldwide, according to the National Institutes of Health (NIH). To put this in perspective, about one in ten people in the U.S. have a rare disease. For instance, if you were in a very crowded elevator, it would be likely that one person on that elevator would have a rare disease. In fact, it is very likely that you know someone with a rare disease, although you may not know it.

Despite their prevalence, rare diseases are often neglected in research and in the development of treatments, leading to limited options for patients and families affected by these conditions. In this blog post, we will discuss the top three challenges faced by individuals with rare diseases and the importance of advocating for change. 

Diagnostic Challenges: Why do I have these weird symptoms?

Patients with rare diseases are often overwhelmed and confused about where to look for answers. One of the biggest challenges faced by individuals with rare diseases is obtaining a correct diagnosis. The lack of awareness among healthcare providers and the absence of standard diagnostic tests for many rare diseases often leads to underdiagnosis and a long and difficult diagnostic journey. Patients frequently visit multiple doctors and undergo numerous tests before finally receiving an accurate diagnosis. This difficult journey often takes years, not months. Patients go from doctor to doctor, specialist to specialist, test after test, feeling like they are stuck in a pinball machine with no way out. The delay in diagnosis can not only be emotionally and physically draining for patients, but can also delay the start of proper treatment and may lead to worse health outcomes.

Lack of Research and Treatment Options: What is wrong with me?

Due to the rarity of many rare diseases, there is often a lack of research, information, and treatment options available for patients and physicians. Frequently, there is little funding and little to no research being done on many rare diseases. It can also be extremely difficult for patients to find physicians or treatment centers with experience in a particular rare disease. Understatement is common due to low interest from diagnostic and pharmaceutical companies. Approximately 95 percent of rare diseases do not have FDA-approved treatments, and even when treatments do exist, they may be experimental, unavailable, or unaffordable. Often, patients are treated “off-label” (unapproved use of an approved drug), which can cause insurance reimbursement problems with private insurance, Medicare, and Medicaid. The lack of treatment options can be incredibly frustrating and stressful: patients and their families, who may feel hopeless and helpless in their search for a cure.

Stigma and Social Isolation: Where can I go for help?

Individuals with rare diseases also often face stigma and isolation from both society and the healthcare community. This stigma can be due to a lack of understanding about the disease, or because the symptoms of the disease are misunderstood, misdiagnosed, or misconstrued. Patients may also feel isolated and abandoned by the healthcare system because they are one of only a few individuals in the world with their specific condition and may feel like they do not have anyone to turn to for support. People with rare diseases often withdraw from social connection because of disabilities or to avoid having to explain something that even they themselves don’t understand very well. 

Advocating for Change: How can you help?

Despite the challenges faced by individuals with rare diseases, there are many organizations and advocates working to bring attention to these conditions and to improve the lives of those affected by them. One of the key ways to advocate for change is by raising awareness about rare diseases and by educating the public, healthcare providers, and policymakers about the impact of these conditions. A disease may seem inconsequential since it affects so few people, but to people living with a rare disease, it is their whole life. Additionally, supporting research into rare diseases, rare disease genetics, and advocating for the development of new treatments and therapies can help to improve the lives of those affected by these conditions, as well as future medical research and treatments. Some research into rare diseases has taught us more about common conditions such as osteoporosis, kidney stones, and viral infections (NIH). 

In conclusion, rare diseases pose a significant challenge for individuals and their families, with many facing a long and difficult journey to receive a diagnosis, limited treatment options, and stigma and social isolation. However, by raising awareness and advocating for change, we can work towards a future in which individuals with rare diseases receive the support and care they need to live healthy, fulfilling lives.

The Rare Genomics Institute: Need more information?

The Rare Genomics Institute raises awareness for rare diseases, helps people understand the rare conditions that they and their loved ones face, and connects people with doctors and resources to navigate their healthcare path. 

• If you would like to learn more about a specific rare disease that is not featured on our website, please reach out to our team which maintains our rare disease list at contact_us@raregenomics.org. 

• For more general information on rare diseases, the National Organization for Rare Disorders (NORD) offers a database of approximately 1,300 reports on specific rare diseases written in patient-friendly language on its website, www.rarediseases.org. 

• The most complete listing of rare diseases in the U.S. is on the website of the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD), https://rarediseases.info.nih.gov/about.

At the Rare Genomics Institute (RG), we are more than just an organization. We are a community dedicated to helping rare disease patients find hope for a cure. We work alongside patients and their families, providing them with the necessary tools, knowledge, and connections so that they can better understand the cause of their disease.  We bring together scientists, entrepreneurs, innovators, and professionals, who share our passion for helping rare disease patients and leverage the crowdfunding capabilities to bring the hope of a cure to our patients.