When You Can't Get a Diagnosis

Medical conditions can be difficult to diagnose for a number of reasons. For example, you may have overlapping conditions or a rare disease that isn’t on your healthcare provider’s radar.

When your doctor can’t diagnose you, it may help to ask questions about additional testing, seek a referral to a specialist, or get a second opinion. Failure to get an accurate diagnosis can delay treatment and potentially worsen your condition.

This article explains what to do when doctors can’t diagnose you. It also discusses possible reasons why something may be overlooked and offers examples of conditions commonly missed.

Why Your Doctor Can’t Diagnose You

The science of medicine may be highly advanced, but that doesn’t mean that it is always exact or perfect. Your doctor may not be able to reach a diagnosis when:

• The symptoms themselves are difficult to identify. For example, an occasional headache may be just a headache, or it could be a symptom of a larger problem.
• The body system causing the symptoms is not clear. The patient may find they are seeing the wrong specialist, leading to a delay in diagnosis.
• The patient may have more than one medical problem, which makes the diagnosis process confusing. There may be conflicts among the drugs or supplements the patient already takes, leading to symptoms caused by those conflicts.
• There are no definitive tests used to identify a condition, or the diagnosis cannot be confirmed until a patient has died (upon autopsy). In these cases, healthcare providers must use combinations of symptoms, often vague ones, which can lead to a lack of diagnosis.
• The real medical problem may be highly unusual. The healthcare provider might not consider a diagnosis that is very rare in general or for the age of the patient. For example, lung cancer in a younger person would be highly unusual.
• A rare disease is so rare that few medical professionals know much about it.
• The patient is not entirely truthful about symptoms. For example, cirrhosis of the liver may not be immediately considered in someone who has pain in the region of the liver but claims not to drink alcohol.
• There may be no name for the symptoms someone is experiencing. Medical science may not yet have determined a named diagnosis.

How Often Are Patients Undiagnosed?

Statistics on the frequency of missed diagnoses vary according to the symptoms or the eventual diagnosis. Some examples are:

• Glaucoma: A study published in 2016 estimated that about half of glaucoma cases in the U.S. are undiagnosed.
• Sleep apnea: A 2018 study found that among patients considered to be at elevated risk for obstructive sleep apnea, only 8% had been tested for it.
• Ovarian cancer: Because women can go for many months without symptoms, and because those symptoms may suggest gastrointestinal problems, it is not uncommon for a diagnosis to be missed. According to the National Cancer Institute, more than half of cases are only diagnosed when they have metastasized (spread to another part of the body).

Common Missed Diagnoses

A missed diagnosis can occur in almost any disease or condition. Research has found that multiple common conditions often go undiagnosed. These include:

• Stroke
• Bladder cancer
• Breast cancer
• Colorectal cancer
• Lung cancer
• Prostate cancer
  
• Fractures 
• Heart attack
  
• Pulmonary embolism
  
• Sepsis
• Abscess
• Aortic aneurysm
• Brain hemorrhage
• Pneumonia

Rare Diseases Are Often Missed

People with rare diseases are especially likely to go undiagnosed or misdiagnosed. Rare diseases are often genetic conditions and not on a doctor’s radar.

According to the World Economic Forum, 40% of patients with a rare disease received more than one wrong diagnosis before the actual cause was found. What’s more, children with rare diseases can wait six to eight years to get an accurate diagnosis. 

The National Organization for Rare Diseases reports more than 7,000 medical conditions fall under the rare disease classification. The most common rare diseases include: 

• Cystic fibrosis
• Duchenne muscular dystrophy
• Ehlers-Danlos syndrome 
• Hemophilia
• Sickle cell anemia
  

Outcomes Resulting From Lack of Diagnosis

Things that can happen if your healthcare provider can’t reach a clear diagnosis include:

• Your healthcare provider may dismiss your illness, telling you it’s “all in your head.” Consider changing healthcare providers, finding one who will work with you respectfully.
• Your healthcare provider may make up a label for your illness, a name that isn’t really an accepted name for a diagnosis. Professionals call these “fake” or “trash can” diagnoses. They seem to be made up in order to give the patient a label.
• You may continue to get sicker or feel worse. Eventually, your symptoms may become pronounced enough that you are given a diagnosis.
• You may go without treatment, sometimes for months or years.
• You may be treated for the symptoms, but not their cause. Furthermore, you may find that by relieving symptoms, you may be covering the aspects of your medical problem that could assist the diagnosis.

What to Do When Doctors Can’t Diagnose You

Having troubling symptoms without a diagnosis for an extended period of time can be extremely frustrating. Tactics for solving your undiagnosed disease or condition include:

• Ask probing questions. Phrases that might prompt your doctor to pause and reflect further include: What might this be? Are there other things that may be causing these symptoms? What should I do if my symptoms get worse? Might other testing be helpful?
• Request a referral to a specialist. If your primary care provider is unable to determine the cause of your symptoms, ask to see a specialist. 
• Organize your medical records. Putting together a binder of your medical records makes it easier for a new healthcare provider to review them. Include previous test results, after-visit summaries, correspondence with your provider’s office, and prior treatments.
• Seek a second opinion. If a specialist is unable to pinpoint a diagnosis or you are not confident in the diagnosis given, consider seeing another specialist for a second opinion. 
• Check the Undiagnosed Diseases Network. Funded by the National Institutes of Health and a part of Harvard University, the Undiagnosed Diseases Network offers resources for people with difficult-to-diagnose conditions.
• Consider genetic testing. Medical genetic testing is often an important part of the diagnostic process, especially when it comes to rare diseases.