Myths and Misconceptions About Rare Diseases
Reviewed by: HU Medical Review Board | Last updated: November 2023
People with rare diseases sometimes have to deal with misconceptions other people have about what it is like to live with a rare condition. Here are some facts that may help you educate others about rare diseases.
Myth: Rare diseases are, well, rare.
Facts: Not at all. While each rare disease may have few in numbers, there are millions living with a rare health condition worldwide. In fact, doctors believe 30 million in the United States and 400 million worldwide live with a rare disease.1-3
Some rare diseases impact only a few people, but some are diagnosed in thousands of people. For example, 35,000 people in the United States have cystic fibrosis. Since the United States defines a rare disease as one that impacts fewer than 200,000 people living in the country, this means cystic fibrosis is rare, even though it is a well-known condition.1,2,4
Rare disease nonprofits use hashtags on social media to highlight that rare diseases taken together are not rare at all, including:
Myth: Once you get a diagnosis, your doctor will have a treatment!
Facts: Treating a rare disease is difficult partly because these conditions are hard to diagnose correctly. It takes an average of 6 to 8 years to get an accurate diagnosis. Without a diagnosis, treatments may or may not relieve symptoms or stop long-term damage to organs. Delayed diagnosis may be a reason why 6 out of 10 rare diseases lead to a shorter lifespan.3,5
Only about 500 of the 7,000 known rare diseases have treatments approved by the US Food and Drug Administration (FDA). This means more than 9 out of 10 rare diseases do not have an approved treatment.6,7
Myth: Adults are impacted more than children.
Facts: Rare diseases take a heavy toll on children. Half of all people affected by rare diseases are children, with 3 out of 10 dying before age 5. Nearly 3 out of 10 infant deaths that occur in intensive care are due to a rare disease.3,6
Roughly 4 out of 5 rare diseases are genetic. Cystic fibrosis, hemophilia, and Gaucher disease are examples of genetic rare diseases that may be diagnosed in children.3
Myth: Those who share the same rare disease can be treated the same way.
Facts: Yes, some rare diseases can be treated with roughly the same drug regimen and lifestyle changes. However, many rare diseases require an individual treatment plan, tailored to that person's unique symptoms.
For example, pulmonary arterial hypertension treatments vary widely depending on what is causing the disease and what each person's symptoms are. Fabry disease is another condition without a one-size-fits-all treatment. Because Fabry disease may impact many organ systems in the body, treatment can require many different approaches.8,9
Myth: Drugs used to treat common conditions cannot be used to treat rare conditions.
Facts: Currently, 7 of the 10 top-selling drugs in the United States are used to treat both common and rare conditions. One example is Humira®. In 2016, it was approved for 12 different conditions, 4 of which are rare diseases. Of its $13.6 billion in total sales in 2016, only 3.8 percent of that was for the 4 rare conditions.10
Myth: Specialty drugs are the same things as orphan drugs.
Facts: Specialty drugs are medicines with special requirements, such as how they are stored or given to the patient. An orphan drug is a medicine for conditions that have been ignored – or "orphaned" – because so few people have the disease. Some orphan drugs may be specialty drugs, but not all specialty drugs are orphan drugs.10
Myth: You are always born with a rare disease.
Facts: Yes, 8 out of 10 rare diseases are genetic, or inherited. About half of all people affected by rare diseases are children. Many are diagnosed soon after birth. Examples of rare diseases that may be diagnosed in children include Gaucher disease, phenylketonuria, and Pompe disease.3,4,11
The other half of rare diseases are “triggered” later in life. Examples of rare diseases diagnosed in adults include Creutzfeldt Jakob disease and familial fatal insomnia.12,13
Myth: If you have a rare disease, your insurance will cover all treatment costs.
- Finding secondary insurance to help defray costs
- Getting coverage for needed treatments and procedures
- Having repeated rounds of conversations with insurance company representatives
Children in the study had one of 2 rare conditions: spinal muscular atrophy or metachromatic leukodystrophy. All had insurance through a parent's job, and some also had a public insurance program like Medicaid or CHIP (children's health insurance program). The study also found parents may move from one state to another to find better benefits for their children.14