Rare Disease Healthcare

Patients with rare and undiagnosed diseases experience unique patterns and challenges in healthcare compared to those with more common conditions. [1]
Medically complex patients with rare and undiagnosed conditions often face challenges, such as long diagnostic journeys, financial hardship, medical gaslighting, misdiagnoses, and even accusations of abuse. These difficult experiences can leave people feeling lost, unheard, and distrustful of the healthcare system meant to support them. For many patients and families, these challenges can result in physical setbacks and psychological harm; including anxiety, depression, and post-traumatic stress.

ElevateRARE believes it’s crucial to acknowledge and address the trauma that rare disease patients and families face and to understand how these experiences impact the rare disease healthcare journey.

Diagnostic Delays

Currently, many rare disease patients wait an average of four to seven years before receiving an accurate diagnosis of their rare disease. [2] Rare disease research refers to this prolonged timeframe to diagnosis as the “diagnostic odyssey.” Beyond the excessive financial burden to families and to the nation’s healthcare system, long “diagnostic odysseys” subject patients to repeated misdiagnoses and inappropriate treatments, inflicting both physical and emotional pain on patients and their families. [3] Improving care for rare disease patients must focus on reducing the diagnostic odyssey.

Misdiagnosis, Dismissal, and Accusations

Adult and Adolescent Patients:  Many adolescent and adult rare disease patients have stories of medical encounters where physicians dismissed the symptoms of their rare disease as fabrications and exaggerations, or mislabeled them as psychiatric conditions.[4] In one study, interviews of adolescent and adult patients with a rare connective tissue disorder found that 86% had experienced one or more acutely stressful episodes of poor treatment by physicians, including accusations of “faking” their symptoms, and 33% had been formally diagnosed with PTSD as as result of cumulative negative interactions with providers described as “overly skeptical”, “invalidating”, “dismissive” of patient symptoms, and “unreceptive” to learning about the patient’s rare disease. [5] Research into difficult experiences such as these has uncovered patterns of “medical gaslighting,” that when compounded over time, can lead to profound medical trauma. [6] This trauma can have serious consequences for patients, including erosion of the patient’s trust in providers, a decreased ability to interact productively with the healthcare system, and avoidance of seeking medical care for the patient’s rare disease. [4, 5, 6]

Pediatric Patients:  Caregivers of pediatric rare disease patients report similar experiences of medical gaslighting and medical trauma when they seek care for their child’s rare disease, and symptoms they report are dismissed as fabrications and exaggerations, or mislabeled as psychiatric conditions. For some parents, their child’s rare disease symptoms are even misidentified as a form of child abuse called medical abuse.

Medical abuse may be referred to by different names, such as: “Munchausen Syndrome by Proxy (MSBP)”, Medical Child Abuse (MCA), Factitious Disorder Imposed on Another, Caregiver Fabricated Illness, and others. Underlying these labels is the assertion that a caregiver lies, fakes or exaggerates symptoms to access unneeded medical care for their child. Physicians then provide unnecessary treatments and procedures on the child which can cause harm, but have no possible benefit since the “symptoms” are “not real.” This ‘overmedicalization’ of the child is considered a form of child abuse in every state in the U.S. and across Europe.

Patient advocacy groups and rare disease organizations report frequent requests for help by parents of medically complex children with rare or undiagnosed diseases who have been mistakenly accused of medical abuse, and it appears accusations may affect these families more than others.