Decision Support for Parents Receiving Information About Child's Rare Disease
Decision Support for Parents Receiving Information About Child's Rare Disease
The birth of a child with a disorder of sex development (DSD) is stressful for parents and
 members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a
 girl?) and the best course of action (e.g., should there be surgery? what kind? when?) are
 not obvious. While there have been large advances in diagnostic assessments like genetic and
 endocrine testing, the tests do not always show what caused the DSD. And, even when the tests
 do reveal an explanation for the DSD, knowing what happened genetically or hormonally does
 not usually lead to a single "correct" treatment plan. Instead, it is likely that there are
 different acceptable treatment options - and parents will need to make decisions based, in
 part, on their personal preferences, values, and cultural background. Adding more stress to
 the situation is knowledge that many of the decisions that need to be made by parents early
 in a child's life are irreversible and exert life-long consequences for the child and the
 family.

 To support parents becoming actively involved in making such decisions, and to reduce the
 likelihood of future worry and regret about decisions that have been made, the investigators
 will create a decision support tool (DST). The DST will help educate families about typical
 and atypical sex development of the body, the process by which DSD are diagnosed (especially
 how to interpret genetic test results), and possible relationships between diagnostic/genetic
 testing, decisions about care, and known consequences of those decisions on their child and
 entire family. The DST will be used by parents of young children together with their child's
 health care provider.

 The investigators will bring together a network of researchers, health care providers,
 representatives of patient support and advocacy organizations, and parents of children with
 DSD to share their experiences. Participants of this network will be involved at each stage
 of creating the DST, revising it, and putting it into practice. At the end of this project,
 the investigators will have a fully formed DST that will be available for parents to use with
 their child's healthcare team as they are first learning their child may have a DSD.
Inclusion Criteria:

 -  Must be a parent/caregiver of a patient who is newborn through 5 years old (i.e., 5.9
 yrs).

 -  Patient clinical diagnosis of ambiguous genitalia (eg, 46,XX,Prader 2+; proximal
 hypospadias with uni/bilateral undescended testes) or sex chromosomes discordant with
 genital phenotype.

 -  Condition must be newly ascertained where decisions regarding surgical procedures
 (internal or external genitalia), diagnostic testing, and/or other aspects of clinical
 management have yet to be made.

 Exclusion Criteria:

 -  Turner syndrome, Klinefelter syndrome, bladder or cloacal exstrophy.