In the realm of rare diseases, misdiagnosis abounds. A 2023 study found that rare disease patients are misdiagnosed an average of three times and see five doctors before being accurately diagnosed. These misdiagnoses extend suffering, complicate treatment, and leave individuals and families grappling with uncertainty and frustration.

How Misdiagnosis Happens

Misdiagnosis stems from a myriad of factors. Rare genetic disorders, by their very nature, are unfamiliar to most doctors and people. This limited awareness results in overlooked clues and opportunities for accurate diagnosis. Providers default to diseases they know well and rarely seek genetic evaluation. Additionally, the scarcity of resources and doctors focused on rare diseases compounds the problem, leaving patients overlooked and misunderstood.

Rare disorders may also share symptoms with more common ailments. Consider Ehlers-Danlos syndrome (EDS), a group of genetic connective tissue disorders. Doctors may mistake its symptoms — like joint hypermobility and skin fragility — for fibromyalgia or arthritis. 

Similarly, many metabolic and genetic conditions, including those that are highly treatable, can mimic cerebral palsy (CP). There are even patients with Dopa Responsive Dystonia who have lived with a misdiagnosis of CP for decades. After doctors realized the mistake, the symptoms were treated and resolved.

The Impacts of Misdiagnosis

Misdiagnosis can have profound and far-reaching impacts on every aspect of life.

Missed Early Intervention and Treatment

Early intervention is critical for many rare diseases. Misdiagnosis stops people from getting treatments that could ease symptoms, slow progression, or improve outcomes. Doctors may instead treat the symptoms they see but not the underlying cause. As a result, complications may arise that a prompt and accurate diagnosis could have prevented. Delayed treatment can irreversibly damage organs, tissues or bodily systems, and in the worst cases, cause early death.

Physical and Psychological Stress

Living with undiagnosed or misdiagnosed symptoms takes a toll on physical and mental well-being. At best, the treatments people receive may be ineffective. At worst, they are risky or harmful. Pain, fatigue, and other debilitating symptoms may impact their functioning and quality of life. The uncertainty surrounding a misdiagnosis also contributes to anxiety, depression and feelings of isolation.

Financial Costs

Being diagnosed typically entails a series of consultations, tests, and procedures. None of this is free. Misdiagnosed patients may then undergo unnecessary, ineffective, and expensive treatments or procedures. Patients may also be unable to work due to illness or disability, increasing financial strain.

Missed Opportunities for Support

Rare diseases can bring unique challenges that need specialized care and support. Misdiagnosis prevents patients from accessing resources such as support groups, advocacy organizations, or clinical trials. Loved ones may also struggle to give support without understanding the underlying disease.

Loss of Trust in the Healthcare System

Being misdiagnosed erodes trust in healthcare providers and the medical system as a whole. Patients may feel disillusioned, questioning the skill and reliability of the people responsible for their care. 

Signs That May Indicate a Misdiagnosis

Certain red flags may suggest a rare disease or condition that providers have missed. If any of these items sound like you, ask your care team about seeing a geneticist: 

  • Your symptoms are worsening or not responding to treatment.
  • You have new or additional symptoms that don’t fit your diagnosis.
  • Your disease has a strange presentation, like an early onset or rapid progression.
  • You lack the standard risk factors for your diagnosis.
  • You have been diagnosed with two unrelated diseases.

For more on these and other signs, see our list of 10 red flags for genetic diseases.

Finding the Truth with Genetics

Misdiagnosis poses a real challenge for the rare disease community. A misdiagnosis can affect your physical, emotional, and financial health. With a genetic evaluation, you could gain clarity and reduce these burdens. Medical geneticists analyze your history, indications and DNA to pinpoint anomalies and deliver an informed diagnosis.

Knowing your condition can provide validation and relief. At the same time, getting answers opens doors to more effective care, from targeted treatments to specialized monitoring and comprehensive disease management. 

At SequenceMD, our team focuses on diagnosing and managing rare and genetic conditions. We are committed to helping patients like you find answers. Contact us to learn more.