The Diagnostic Odyssey: Legal Implications of Delayed Diagnosis in Rare Diseases.

For attorneys handling medical malpractice and wrongful death cases, the delayed diagnosis of rare diseases presents significant legal challenges. Unlike more common conditions, rare diseases often suffer from misdiagnosis due to their elusive nature, overlapping symptoms, and the lack of awareness among healthcare providers. This creates unique obstacles for proving negligence, establishing a breach in the standard of care, and demonstrating causation.

This article takes a deep dive into the legal implications of delayed diagnosis in specific rare diseases, including common diagnostic pitfalls, case law insights, expert witness strategies, and key medical guidelines attorneys should leverage when handling these cases.

1?? The Legal Landscape of Rare Disease Misdiagnosis

Why Are Rare Diseases Misdiagnosed?

Rare diseases—affecting fewer than 200,000 individuals in the U.S.—are frequently overlooked in differential diagnoses. Contributing factors include:

? Non-Specific Symptoms: Many rare diseases mimic more common conditions, leading to misdiagnosis.

? Lack of Physician Awareness: Limited exposure to rare diseases results in failure to recognize key diagnostic criteria.

? Inadequate Testing: Physicians may not order appropriate genetic, metabolic, or imaging tests.

? Delayed Specialist Referral: Patients are often treated symptomatically without being referred to a specialist who could confirm the diagnosis.

2?? Case Studies of Rare Disease Delayed Diagnosis & Legal Challenges

Ehlers-Danlos Syndrome (EDS): A Case of Ignored Symptoms

What Is EDS?

Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders affecting the skin, joints, and blood vessels. Due to symptom overlap with conditions like fibromyalgia, chronic fatigue syndrome, and psychiatric disorders, EDS is frequently misdiagnosed.

Common Errors in Diagnosis

? Patients are often dismissed with diagnoses of anxiety or chronic pain syndrome.

? Hypermobile EDS (hEDS) is often confused with fibromyalgia.

? Vascular EDS (vEDS) is mistaken for hypertension or blood clotting disorders.

Legal Considerations

?? Standard of Care Violation: Did the physician fail to recognize hallmark EDS symptoms (e.g., hypermobility, skin fragility, joint dislocations)?

?? Failure to Refer to a Specialist: Did the doctor neglect to send the patient to a geneticist or rheumatologist?

?? Causation: Did the delay result in preventable organ rupture, joint deterioration, or disability?

Key Case Example

?? A 32-year-old woman suffered from chronic joint instability for over a decade before being diagnosed with EDS. She eventually suffered a cervical spine dislocation, leading to permanent paralysis. The lawsuit argued that earlier intervention with bracing and physical therapy could have prevented severe spinal damage.

?? Outcome: $4.3 million settlement for permanent disability.

Wilson’s Disease: The Consequences of a Missed Diagnosis

What Is Wilson’s Disease?

Wilson’s Disease is a genetic disorder causing toxic copper buildup in the body. When diagnosed early, it is highly treatable. However, misdiagnosis can lead to fatal liver failure.

Common Diagnostic Errors

? Symptoms like tremors and fatigue are often diagnosed as psychiatric disorders.

? Patients with liver dysfunction are treated without proper copper testing.

? Kayser-Fleischer rings (eye discoloration) are frequently overlooked.

Legal Considerations

?? Failure to Order a Simple Blood Test: Did the doctor ignore standard diagnostic testing?

?? Preventable Liver Transplant: Could an earlier diagnosis have avoided a liver transplant or death?

Key Case Example

?? A 24-year-old man was diagnosed with depression and anxiety, despite reporting neurological and liver-related symptoms. No copper tests were conducted, and by the time of diagnosis, he required an emergency liver transplant. He later died due to transplant complications.

?? Outcome: $6.5 million wrongful death settlement.

Multiple Sclerosis (MS): When Early Treatment Is Critical

What Is MS?

MS is an autoimmune disease affecting the central nervous system. Early diagnosis and treatment are essential to slow disease progression and prevent permanent disability.

Common Diagnostic Errors

? MS is frequently misdiagnosed as fibromyalgia, migraines, or depression.

? Mild early symptoms like tingling and dizziness are dismissed.

? MRI findings can be overlooked or misinterpreted.

Legal Considerations

?? Failure to Order MRI with Contrast: Did the physician miss an opportunity for early detection?

?? Delayed Access to Disease-Modifying Therapy (DMTs): Could earlier treatment have prevented permanent disability?

Key Case Example

?? A 41-year-old woman was misdiagnosed with fibromyalgia after experiencing intermittent tingling, fatigue, and blurred vision. An MRI conducted six years later confirmed MS, but by then, she had developed permanent mobility impairment.

?? Outcome: $8.2 million jury award for negligence in delayed diagnosis.

3?? Building a Strong Legal Case: Expert Witness & Strategy

Key Medical Experts to Use

? Neurologists (for MS cases) – Can confirm whether standard diagnostic criteria were met.

? Geneticists (for Wilson’s & EDS cases) – Can explain why genetic testing should have been ordered earlier.

? Hepatologists (for Wilson’s Disease) – Can testify how early treatment could have prevented liver failure.

? Radiologists – Can evaluate missed findings on MRI or CT scans.

Using Clinical Guidelines to Prove Negligence

?? MS Diagnosis Guidelines: Failure to order an MRI violates the McDonald Criteria for MS diagnosis.

?? Wilson’s Disease Guidelines: The American Association for the Study of Liver Diseases recommends copper testing for unexplained liver dysfunction.

?? EDS Diagnosis Guidelines: Clinical criteria require evaluation of hypermobility and skin elasticity, often ignored by physicians.

Countering Common Defenses

?? “The disease was too rare to diagnose sooner.”

? Counter: Established guidelines recommend testing for rare diseases when symptoms persist without explanation.

?? “An earlier diagnosis wouldn’t have changed the outcome.”

? Counter: Expert testimony can demonstrate how earlier intervention improves prognosis.

Final Thoughts: A Call for Legal Accountability

Delayed diagnosis of rare diseases is a serious legal and medical issue. Attorneys handling these cases must:

?? Leverage medical literature & guidelines to establish negligence.

?? Use expert witnesses specializing in rare diseases.

?? Demonstrate causation by proving that earlier diagnosis could have prevented harm.

?? Legal action in these cases does more than compensate victims—it pushes for systemic change in medical practice.