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.