Living with a rare disease can be extremely difficult and isolating. There might be very little information about the condition, and maybe few, if any, treatments exist. It could also be hard to connect with other patients — or even know how many of you are out there.
A rare disease is defined as a condition that affects fewer than 200,000 people in the U.S. Researchers think there are as many as 7,000 such diseases, and today, approximately 30 million Americans are living with one of these diseases you probably never heard of or know very little about.
Summit Health Infectious Diseases and Travel Medicine specialist Anca Georgescu, MD says, “Even though these conditions are considered rare based on the proportion of people affected, a significant number of individuals suffer significant complications from them.” She adds, “And the implications are not strictly from a treatment standpoint, which may not be as readily available as for more common illnesses, but also concern the toll on mental health, a person’s family, and the entire health care system.”
One of the challenges in living with a rare disease is not knowing how common it is. Prevalent conditions like asthma or diabetes are recorded in a registry when someone is diagnosed and studied over time. Rare diseases, however, are usually not tracked unless they have received special funding from the National Institutes of Health or a private organization.
The lack of a central database makes it difficult for researchers to define and understand these little-known diseases. Like many conditions, the symptoms may also vary from person to person. With very few people to study and monitor, it can be hard for physicians to make an informed diagnosis.
Rare diseases affect both children and adults. Examples of conditions that our doctors help evaluate and manage include:
- Cancers and blood disorders – esophageal cancer and hemophilia
- Autoimmune condition – primary biliary cholangitis
- Genetic disorders – Fabry disease and spinal muscular atrophy
- Infectious diseases – typhoid fever and even mosquito- and tick-borne illnesses
- Digestive problems – urea cycle disorders
- Hormonal disorder – Cushing’s syndrome
- Neurological disorders – narcolepsy and amyotrophic lateral sclerosis (ALS)
- Respiratory diseases – cystic fibrosis and pulmonary arterial hypertension
- Eye disorders – retinal dystrophy
Causes of Rare Diseases
Rare diseases have many causes. Approximately 80 percent are genetic — meaning there is a particular gene or chromosome that is missing, changed, or duplicated. Others, like certain cancers and autoimmune conditions, occur randomly, while infectious or respiratory diseases are usually contracted.
Treatment for Rare Diseases
Lack of knowledge makes it difficult to develop treatments for rare diseases. Since it is unclear how many people are affected, it is hard to convince researchers and drug companies to spend money on development and clinical trials. They may say there is not enough need to justify developing new medications or therapies.
To combat this problem, Congress developed a law known as the Orphan Drug Act of 1983. This legislation created financial rewards for pharmaceutical companies that developed “orphan drugs” — medications that are not profitable to produce because they help so few people. Over the last 40 years, more than 600 orphan drugs have received FDA approval.
Still, there is much work to be done. Only five percent of rare diseases have treatments. Many conditions are also treated with off-label drugs that were approved for a different disease.
“In the case of rare infectious diseases,” says Dr. Georgescu, “treatment is limited by lack of available data to support use of available drugs – as in the case of treatment for certain tropical parasitic infections. In areas of limited resources, these problems become even more critical.”
Doctors Who Can Help
There is no single physician who treats only rare diseases. The type of specialist you want to see will depend on the condition you have and the symptoms you experience. For example, you may need to consult with a geneticist, infectious disease specialist, or neurologist.
If you are having symptoms and suspect you may have a rare disease, your primary care physician is the right place to start. They can help guide you to the proper experts.
Support for Rare Diseases
The National Organization for Rare Diseases is a non-profit group with the goal of empowering patients and families living with rare diseases. They are dedicated to the identification, treatment, and cure of all these little-known conditions.
To help support and advocate for rare diseases you should:
1) Get Educated. Most diseases have an advocacy group. Research the organization online.
2) Tell Your Story. Share information about your rare disease with your friends and family. Send accurate information to news outlets and post on social media. Contact lawmakers and opinion leaders.
3) Connect With Others. Reach out to fellow rare-disease patients. Advocacy groups usually have a network of individuals who have given permission to speak to other patients and their families. Participate in any local or national events for your condition.
As an Infectious Diseases Specialist, Dr. Georgescu encourages other physicians to share knowledge in physician-led communication networks; participate in professional societies, such as Infectious Diseases Society of America (ADSA); and continue to provide treatment guidance based on available knowledge. “It’s also helpful to have experts available for direct consultation similar to what already exists from the Centers for Disease Control and Prevention,” she says.
Sidebar: Rare Infectious Diseases
An infectious disease is caused by microscopic organisms like parasites, bacterium, viruses, or fungus. These germs can enter our body through the air, food and water, an insect bite, or direct contact with someone else who is sick.
Typhoid fever is a life-threatening disease that causes prolonged fever. There are fewer than 20,000 cases in the U.S. each year, but the condition is extremely common in developing countries like India and Pakistan due to poor sanitation and contaminated drinking water.
Most Americans who are diagnosed with typhoid fever contact the disease while traveling abroad. There is both an oral and injectable vaccine that can help prevent typhoid fever. If you plan on traveling to a high-risk country, it is important to discuss being immunized with your physician.
H1N1 or swine flu is a type of influenza virus that was originally found in pigs. Swine flu was at pandemic levels during the 2009-2010 flu season. It is still around today but it is no longer as rampant in the U.S. Similar to the seasonal flu, symptoms include fever, body aches, chills, fatigue, cough, sore throat, and nasal congestion.
The annual flu vaccine protects against swine flu. The virus is spread through respiratory droplets like the flu or COVID-19. If an individual with swine flu coughs or sneezes, they can spread tiny drops into the air. These droplets can also land on surfaces that other people touch.
If we look back at our not-so-distant past, we realize that what we now consider rare—diseases that represented a leading cause of illness, death, and epidemics—is due mostly to the existence of vaccines. “One of the main reasons diseases such as swine flu are now considered scarce is the vaccination effort,” says Dr. Georgescu. The same can be said for other illnesses such as measles or rubella, not to mention polio (for which eradication is still a goal) or smallpox, an infectious illness that was eradicated solely by mass immunization.