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Term Libraries

A guide to understanding rare disease care, support, and systems navigation for families.

Disclaimer: The definitions listed below are for educational purposes only and are not intended to substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your medical provider with any questions you may have regarding a medical condition.

Medical & Diagnostic Terms:

  • Rare Disease: A rare disease is defined as a condition that affects fewer than 200,000 people in the U.S. at any given time.
  • Genetic Testing: A medical test that identifies changes in chromosomes, genes, or proteins.
    • Example: A child with developmental delays may receive genetic testing to determine the underlying cause.
  • Incidental Finding: A result discovered unintentionally during medical testing, which may or may not be related to the primary concern.
  • Complex Medical Condition: A condition requiring ongoing medical care involving multiple systems or specialties.
  • Progressive Disease: A condition that worsens over time, potentially affecting physical or cognitive functioning.
  • Multidisciplinary Team: A group of professionals from different specialties working together to provide coordinated care.

Provider Roles:

  • Geneticist: A doctor specializing in diagnosing and managing genetic disorders.
  • Genetic Counselor: A healthcare professional with specialized training in medical genetics and counseling. Genetic counselors help families understand genetic testing results, make informed decisions, and cope with the emotional aspects of a diagnosis.
  • Social Worker: A non-medical provider who supports families through emotional, financial, and resource-related challenges. Social workers may also be licensed clinicians trained to diagnose and treat mental health conditions.
  • Care Coordinator: A professional who organizes care and helps families navigate services.
  • Nurse Navigator: A nurse who helps guide patients through the healthcare system and explains clinical information.

Programs & Services:

  • Medicaid: A state and federally funded program that provides health coverage to eligible individuals, including children, individuals who are pregnant, individuals with disabilities, and the elderly. Each state runs its own Medicaid program with specific eligibility rules.
  • CAP/C Medicaid (Community Alternatives Program for Children): A Medicaid waiver that provides in-home services for medically fragile children.
  • SSI (Supplemental Security Income): A federal program that provides monthly payments to children with disabilities based on financial need.
  • Respite Care: Short-term relief care for primary caregivers of children with complex needs.
  • IEP (Individualized Education Program): A customized education plan for students with special needs in public schools.

Mental Health & Coping:

  • Trauma-Informed Care: An approach to care that recognizes the widespread impact of trauma and actively works to avoid re-traumatization. It emphasizes physical, emotional, and psychological safety, and empowers individuals by prioritizing trust, choice, and collaboration.
  • PHQ-9 (Patient Health Questionnaire): A screening tool used to assess depression.
  • Family Empowerment Scale (FES): A tool measuring how confident families feel in managing their child’s care.
  • Caregiver Burnout: A state of emotional, mental, and physical exhaustion caused by the prolonged stress of caregiving.
  • Grief: An emotional response to loss, not limited to death. In the context of rare disease, grief can arise from the loss of expected milestones, future plans, or a sense of normalcy. Grief may be ongoing and can coexist with love, hope, and resilience.
  • Resilience: The ability to adapt, recover, and continue forward after experiencing stress, trauma, or significant challenges.

System Navigation:

  • Referral: A recommendation to connect with a provider or service.
  • Intake: The process of gathering information to understand a family’s needs.
  • Case Management: Ongoing support to help families access services, track progress, and meet goals.
  • Eco-Map: A visual tool that maps out a family’s support network.

Advocacy & Empowerment:

  • Advocacy: Taking action to support, protect, or advance the rights, needs, or interests of oneself or others. In the rare disease space, advocacy can include speaking up for your child at school, influencing policy, or sharing your story to raise awareness.
  • Empowered: Feeling confident and capable of managing your child’s care.
  • Family-Centered Care: An approach that values and prioritizes the family’s role in healthcare decisions.
  • Cultural Humility: A commitment by providers to honor and respect families’ and perspectives.

*This glossary is not a substitute for professional medical or legal advice. For specific guidance, always consult with a licensed professional.