What is an Undiagnosed Disease
What is an undiagnosed disease?
An undiagnosed disease is a medical condition without a known cause, even after many tests and visits to different specialists. Approximately 30 million people in the United States live with a rare disease. A portion of those people live with an undiagnosed condition. Researchers estimate about 80% of undiagnosed diseases have a genetic cause.
Why are some diseases difficult to diagnose?
A condition can be hard to diagnose if:
- It is a rare or ultra-rare disease. Ultra-rare diseases affect fewer than 1 in 50,000 people and are especially difficult to diagnose since most doctors haven’t before seen anyone else with that condition and little information may be available on these diseases.
- Symptoms are atypical of a known condition.
- The disease hasn’t been discovered or published in medical literature.
- Patients don’t get access to the right tests or specialists, often due to location, cost, healthcare coverage gaps, language or cultural barriers and other factors .
More about ultra-rare diseases:
What are ultra-rare diseases?
An ultra-rare disease is a condition that affects fewer than 1 in 50,000 people. This means that in the United States, for any ultra rare disease, less than 7000 people live with that condition. Some of these diseases are so rare that only a few people in the world experience that particular condition.
Likely causes of ultra-rare disease
According to our current understanding, genetic factors or changes in our DNA cause most ultra-rare diseases. A 2022 study published in the Orphanet Journal of Rare Diseases showed that most ultra-rare disorders are due to a change in just one gene. These changes can be from a dominant or recessive inheritance. The rarer the disease, the more likely a recessive gene change caused it.
Getting an ultra-rare diagnosis
The journey to an ultra-rare disease diagnosis is often long, difficult, and expensive. Patients may see dozens of doctors, undergo many tests, and wait years before they finally get a diagnosis.
When someone then gets a diagnosis, they might feel mixed emotions. They may feel relief that they have an answer, but also frustration at how long the diagnosis took to find and confusion, sadness, or fear as there may be more challenges ahead due to the rarity of the disease.
Challenges faced by patients with ultra-rare diseases
Gaps in research and treatments: Often, no treatments are available for ultra-rare diseases. Research is limited because so few people live with the disease, large-scale studies are not possible.
Feelings of isolation: There may not be any support groups or organizations for an ultra-rare disease. This makes it hard for patients and their families to find connection and resources.