What Happens When You Can’t Get a Diagnosis?

Getting an accurate diagnosis is a critical first step in receiving proper treatment and care for a medical condition. However, doctors don’t always get it right the first time. In fact, research shows that diagnostic errors affect about 12 million adults in the U.S. every year.

When a doctor is unable to provide a diagnosis for your symptoms, it can leave you feeling frustrated, confused, and concerned about what happens next. This article explores common reasons why diagnosis fails, potential consequences of missed or delayed diagnosis, and most importantly, what you can do to get answers when your doctor can’t diagnose you.

Why Does Diagnosis Sometimes Fail?

There are a number of reasons why doctors may struggle to diagnose a patient accurately, including:

• Vague, general symptoms – Headaches, fatigue, joint pain can indicate many different possible conditions, making it hard to pinpoint one diagnosis.

• Rare diseases – Many patients have unusual or very rare conditions their doctor has likely never seen before. These aren’t on a doctor’s radar.

• Multiple conditions – Some patients have more than one health problem, complicating the diagnostic picture.

• Need for specialized testing – Certain diagnoses require very specific imaging, lab work, or procedures that primary care doctors don’t have access to.

• Patient difficulties communicating – Language barriers, trouble describing symptoms, and memory issues can interfere.

• Time constraints – Doctors may rush to diagnose after brief appointments without gathering full history.

• An atypical presentation – Diseases don’t always show “textbook” symptoms, misleading doctors.

• Human error – Doctors may anchor on initial assumptions or get distracted and overlook key information.

What Are the Consequences of No Diagnosis?

Facing unexplained symptoms without a clear diagnosis can negatively impact patients in various ways:

• Delayed treatment – Without knowing the problem, the right treatment can’t begin. Untreated conditions often worsen over time.

• Progression of disease – Many diseases become harder to treat if not caught early, so time is of the essence.

• Unnecessary procedures – Exploratory tests and treatments may be done before hitting upon the correct diagnosis.

• Side effects – Medications given for presumed conditions may have unnecessary side effects.

• Financial costs – Multiple specialist visits and diagnostics to identify the disease rack up hefty bills.

• Emotional distress – Frustration, anxiety, depression, and uncertainty take their toll without answers.

• Dismissal – Doctors may label mysterious symptoms as “all in your head” and dismiss them.

• Misdiagnosis – Landing on the wrong diagnosis means the real condition continues untreated.

What Should Patients Do When No Diagnosis Is Given?

If your doctor has been unable to determine the cause of your symptoms, there are several constructive actions you can take:

Ask questions

• Why have standard diagnostics been unsuccessful?
• Could my symptoms indicate a rare disease you haven’t considered?
• Are there specialized tests you haven’t ordered that could help?
• Would a referral to a specialist move us forward?

Request referrals

Ask your doctor for referrals to specialists who focus on the body system involved. For example, a neurologist for neurological symptoms, rheumatologist for joint pain, etc.

Organize medical records

Put together a file with full medical history, test results, doctor visit summaries. This assists new doctors.

Seek a second opinion

Get a new perspective from a doctor not previously involved in your care. A fresh look helps in many cases.

Consider research opportunities

There are programs like the Undiagnosed Diseases Network that may accept you for clinical studies and advanced genetic testing.

Modify behaviors

Make lifestyle changes to alleviate symptoms while seeking diagnosis, like dietary adjustments, more rest, stress relief.

Lean on support systems

Share your experience with loved ones and support groups who understand the frustration.

Change doctors if needed

If you feel dismissed or discounted, find a new provider who will advocate for answers.

6 Steps Doctors Should Take When Diagnosis is Challenging

Medical experts recommend doctors take the following steps when a diagnosis is not readily apparent:

1. Conduct a thorough history/physical exam – Explore all symptoms in detail, do a complete head-to-toe exam.

2. Review records carefully – Look for clues in medical history, family history, past test results.

3. Ask the patient – What do they think might be wrong? The patient may provide clues.

4. Determine which tests/imaging are needed – Order additional lab work, pathology, scans to rule things in or out.

5. Collaborate with specialists – Consult experts in cardiology, neurology, gastroenterology, etc. as needed.

6. Refer the patient – If diagnosis remains elusive after workup, refer to specialist center for undiagnosed diseases.

Examples of Conditions Often Initially Misdiagnosed

Some examples of conditions that doctors frequently struggle to diagnose accurately on initial presentation:

• Chronic fatigue syndrome – Fatigue has vague causes, extensive testing is needed.

• Lyme disease – Tick bite clues are missed, flu-like symptoms have many causes.

• Endometriosis – Menstrual pain and GI problems are blamed on other conditions first.

• Fibromyalgia – Diffuse muscle pain points to many other possible diseases.

• Lupus – Autoimmune disorder shares features with rheumatoid arthritis, MS.

• Thyroid disorders – Symptoms like fatigue, weight gain are highly nonspecific.

• Dysautonomia – Lightheadedness has many differential diagnoses to sort through.

When Should Patients Seek a Second Opinion?

Getting a second opinion from a new doctor after an inconclusive diagnosis by the first provider often sheds light on the situation. Reasons to seek a second opinion include:

• You have persistent symptoms with no diagnosis.

• Treatment is not improving your symptoms as expected.

• The diagnosis does not seem to fully explain your condition.

• Surgery or other invasive treatment is recommended right away.

• You question the accuracy or thoroughness of the initial workup.

• You want confirmation the diagnosis is correct.

Is There Hope for Patients with No Diagnosis?

Landing on a diagnosis is not always possible, but doctors should still provide supportive care for unexplained symptoms. When standard testing proves unsuccessful, emerging research initiatives hold promise:

• Undiagnosed Diseases Network – Program researching difficult medical cases and offering advanced genetic testing.

• Radical diagnostic collaboration – Doctors crowdsource ideas from global experts on puzzling cases.

• Machine learning applications – Algorithms analyze symptoms to generate possible diagnoses for doctors to consider.

• Whole genome sequencing – Comprehensive analysis of all genes identifies variants linked to rare diseases.

• Implantable monitors – Continuously gather heart, respiration, other data to catch sporadic events.

Telemedicine – Conveniently involve faraway specialists for consults.

While an elusive diagnosis is frustrating, the unconditional support of your doctor can make the process more bearable. Seek a provider who listens to your concerns, validates your symptoms, and continues the detective work. With time and emerging technology, more answers will come.

Frequently Asked Questions

What percentage of rare diseases go undiagnosed?

Estimates vary, but studies show about 25-40% of rare disease cases go undiagnosed, meaning decades may pass before the condition is finally identified.

When should I worry about persistent symptoms with no diagnosis?

Discuss any symptoms that linger longer than 2 weeks without improvement or explanation with your doctor. Some require immediate attention while others may just need ongoing monitoring.

Is misdiagnosis common even if doctors identify a condition?

Yes, studies indicate primary care physicians misdiagnose patients about 10-15% of the time. Diagnostic errors cause substantial preventable patient harm each year in hospitals as well.

Can I enroll in medical research studies without a diagnosis?

It depends on the study. Some require that participants have a clearly identified condition to participate. Others, like those focused on undiagnosed diseases, do not require a diagnosis.

Does insurance cover specialized testing needed to diagnose a rare disease?

Unfortunately, insurance often does not cover expensive genetic and molecular testing used to detect rare conditions. Programs like the Undiagnosed Diseases Network help with costs.

The Takeaway

When doctors struggle to pinpoint the cause of symptoms, patients should actively advocate by asking questions, seeking second opinions, and exploring specialty centers or research programs. While an elusive diagnosis is frustrating, emerging solutions provide hope. Staying persistently engaged increases the odds of reaching an eventual diagnosis and appropriate treatment.