Stakeholders of Rare Diseases Informing Values In Neuroethics

Inclusion Criteria:

Group 1 (Parental Caregiver and Patient Participants)

* Parental/primary caregiver with a child who has a genetic diagnosis of an ultrarare disorder with pediatric onset, or a clinical diagnosis with a suspected genetic etiology.
* Child is under 21 years of age at the time of enrollment.
* Child has an expected survival of at least one year following study enrollment.
* Patients (age ≤ 25 years) with a genetic diagnosis of an ultrarare disorder with pediatric onset, or clinical diagnosis with suspected genetic etiology.
* Willingness to provide verbal informed consent (or assent, as appropriate) to participate

Group 2 (Other Family)

* Family member of a Group 1 participant who plays an active role in the child's life or care.
* Includes siblings (≥ 13 years of age), grandparents, or other non-primary caregivers directly affected by the child's diagnosis.
* Demonstrated familiarity with the child's medical and family experience.
* Willingness to provide verbal informed consent (or assent, as appropriate) to participate.

Group 3 (Non-Family Stakeholders)

* Individuals currently engaged, or recently active, in clinical care, research, advocacy or policy work related to pediatric-onset rare genetic disorders.
* May include clinicians (e.g., neurologists, genetic counselors, nurses, child-life specialists, home-health staff), members of patient-advocacy organizations, institutional-review-board (IRB) members, payers, sponsors, funders, or representatives of hospital systems or regulatory agencies.
* Willingness to provide verbal informed consent to participate in semi-structured interviews or focus groups

Exclusion Criteria:

* Limited English proficiency
* Unable to complete the survey materials or complete the interviews in English.
* Inability or unwillingness of research participant to give verbal informed consent (in English)
* Condition or chronic illness, which in the opinion of the PI/Co-I, makes participation unsafe or untenable (i.e., cognitive impairment, concurrent acute morbidity).