Publication date: 15 Sep 2025
RareShare Autumn 2025 Newsletter
A Bigger Picture Behind Rare Diseases
Rare disease patients understandably focus on specific aspects of their condition and how to improve their lives. With over 10,000 known rare diseases and an estimated 300 million people affected worldwide, refocusing to a broad-based view can reveal common challenges faced by virtually all rare disease patients. Among the biggest issues are delayed diagnoses, limited treatment options, high costs, difficulty accessing specialized care, and psychosocial impacts.
The Diagnostic Odyssey
One of the most frustrating challenges for rare disease patients is the "diagnostic odyssey"—a delayed, protracted journey to receiving a confirmed and accurate diagnosis. This process can last several years, often involving extensive testing and consultations with multiple specialists before a correct diagnosis is reached. The diagnostic odyssey frequently includes multiple misdiagnoses before reaching the correct one. This results in delayed access to crucial support and potential treatment options.
A primary reason for the diagnostic odyssey is the scarcity of research and knowledge regarding many genetic syndromes, especially those with very low prevalence. This translates into a pervasive lack of understanding about how rare diseases are inherited, caused, and manifest their symptoms, even among medical professionals. This directly increases the risk of misdiagnosis, as primary care providers are prone to attribute symptoms to more common conditions. Consequently, appropriate tests are not ordered, and patients are sent on a prolonged, frustrating journey through multiple consultations, delaying the correct diagnosis and subsequent effective care.
Limited Treatment Options
Over 90% of rare diseases have no FDA-approved treatment. Most available therapies focus on symptom management rather than cures, and when disease-specific therapies exist, they may be extremely expensive and only partially effective. Small patient populations make research and drug development less attractive to pharmaceutical companies. Further, generation of statistically robust clinical study data is difficult due to small numbers.
Patient recruitment for rare disease clinical trials is therefore challenging, Potential participants may be geographically dispersed. Numerous clinical visits and invasive procedures may be required. Enrollment in a placebo-controlled study becomes a dubious proposition in that patients may need to discontinue a current treatment to become eligible, and then only receive a non-effective control therapy if they are part of the placebo cohort. Regulatory bodies are seeking to find ways to adapt clinical trial design approaches for rare diseases while protecting both patient safety and scientific validity.
High Costs
Orphan drugs and specialized treatments for rare diseases can cost hundreds of thousands of dollars annually. Historically, insurers covered the cost of orphan drugs due to the small patient populations, but bringing more therapies to market results in ever increasing costs. Payers are implementing tighter controls and cost sharing to manage expenditures. This may diminish access to drugs for those most in need.
Supportive therapies (speech, occupational, respiratory, etc.), medical equipment, caregiver costs and over-the-counter drugs may not be fully covered by insurance. Out-of-pocket costs such as travel to specialized centers, and lost income due to caregiving adds to the financial strain. While the costs of treating rare diseases is high, the societal costs of not treating such diseases may be greater when productivity losses, caregiver burden and premature mortality are factored in. This provides a powerful economic argument for increased investment in rare disease research, diagnosis,and treatment. Such spending should be positioned as a societal investment that yields substantial economic and human returns by reducing overall burdens and improving quality of life.
Access to Specialized Care
Even in developed countries, finding health providers knowledgeable in treating rare diseases can be challenging. Expertise is often concentrated in a few hospitals or research centers in urban areas far from the patients in need. Inadequately trained physicians may attribute symptoms to more common conditions, leading to misdiagnosis, inappropriate treatments and unmanaged disease progression. Access to advanced genetic tests to confirm a rare disease diagnosis is often fragmented due to costs, limited medical knowledge, technical availability and policy barriers. Genetic counseling services to help patients and families understand a rare condition are not always available. Coordination of patient care among different healthcare professionals at various locations and different private and governmental agencies can be difficult. This includes obtaining insurance reimbursement for needed medications and treatments.
Psychosocial and Emotional Impact
Living with a rare disease can be isolating. Patients and family members face emotional distress, anxiety and depression from the stress of advocating for themselves in a healthcare and social environment lacking awareness. Caregivers may experience burnout. Misunderstanding from peers at school or the workplace can compound the stress. Uncertainty about the future amidst unpredictable symptoms and the lack of effective treatments, combined with the prolonged diagnostic odyssey can trigger hopelessness and fatigue. Family members can become primary caregivers with minimal training and are called upon to sacrifice personal goals to care for a loved one.
Shared support groups can help break the feelings of loneliness and hopelessness. Finding common understanding and experiences from others having the same condition can be reassuring and empowering. Social media channels and online resources such as RareShare communities provide a framework for such communications.
Conclusions
In summary, rare disease patients face common multifaceted challenges in obtaining a diagnosis, finding effective treatments, managing costs, accessing specialized care, and dealing with psychological stresses. The fact that 300 million individuals worldwide are currently confronted with these challenges underscores a need for greater progress. Continued scientific research in rare diseases and implementation of more practical clinical trial approaches can open the door to better treatments and diagnostics. Enhancements to medical education and support services can bring about greater awareness and improved outcomes for patients. Reforms in funding strategies and information sharing are needed to expand accessibility to care. Greater recognition of the psychological stresses associated with rare diseases is needed to bring about more understanding and inclusiveness for patients. Quality of life improvements for many patients are achievable if societies worldwide are bold enough to demand it.
Disease Information for RareShare Communities
RareShare seeks to provide users with scientifically vetted summary information on its disease community pages. With over 1,000 communities, this is a large task which we have been slowly but surely advancing. The following community pages have either newly prepared disease summaries or updated summaries which we have revised with additional information. Disease summary information is posted in the Community Details section of each community page on the RareShare website.
4q33 deletion syndrome
12q chromosome deletion
15q 26.2 deletion
Addison's disease
Adrenoleukodystrophy
Adrenomyeloneuropathy
Albright hereditary osteodystrophy
Angelman syndrome
Antisynthetase syndrome
Barre-Lieou syndrome
Barrett's esophagus
Behr's syndrome
Benign hereditary chorea
Benign osteopetrosis
Bilateral diaphragmatic paralysis
Birdshot chorioretinopathy
Blastic plasmacytoid dendritic cell neoplasm
Blau syndrome
Blepharophimosis syndrome
Blepharospasm
Blue rubber bleb nevus syndrome
Brachydactyly
Brown-Séquard syndrome
Buerger's disease
Burning mouth syndrome
Carcinoid tumors
Charcot-Marie Tooth syndrome
Classical type Ehlers-Danlos syndrome
Chromosome 4Q deletion syndrome
Chromosome 5P duplication syndrome
Chromosome 14 deletion
Chromosome 15Q11.2 Deletion
Common variable immunodeficiency
Complete androgeniInsensitivity syndrome
Congenital pulmonary lymphangiectasia
Congenital pulmonary venous connection anomaly
Congenital toxoplasmosis
Conradi-Hünermann-Happle syndrome
Darier's disease
Dent’s disease
Dermatomyositis
Double cortex syndrome
Erythropoietic protoporphyria
Fibromyalgia
Granulomatosis with polyangiitis
Hypermobile Ehlers-Danlos syndrome
Large granular lymphocytic leukemia
Marden-Walker syndrome
Microduplication 22Q11.2 syndrome
Mitochondrial diseases
Mixed connective tissue disease
Morgellons
MPPH syndrome
Muckle-Wells syndrome
Pachygyria
ROHHAD syndrome
Septo-optic dysplasia
Sjogren's disease
Spinocerebellar ataxia
Stiff Person syndrome
Syringomyelia
Systemic capillary leak syndrome
Takayasu arteritis
Tarlov cyst
TRAPS
Tubular aggregate myopathy
Uticarial vasculitis
Waardenburg syndrome
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