Challenging issues arising in counseling families experiencing holoprosencephaly

The provision of information and support to families experiencing holoprosencephaly (HPE) in a loved one is unequivocally challenging, even for the most experienced clinicians. It deserves the balance of pertinent information coupled with medical guidance that forms the basis for shared decision-making; all of which is ideally contained within a supportive environment. It requires a willingness to carefully listen to the specific concerns of the parents and family allowing them to revisit challenging issues as much as needed to encourage existing road blocks to be resolved. It necessitates that professionals see each and every family as unique, without preconceived notions about what is or is not important and being prepared to accept thoughts and decisions that may not fit with the professional's own beliefs. To some, this may sound impractical, inefficient, or even impossible within the time constrained models of modern day clinical services. However, in practice, this patient-focused approach is arguably the most essential step in providing "personalized medicine" to the populations we encounter. This manuscript is intended to provide a brief review of relevant literature and case discussions to highlight issues for families learning of the diagnosis of HPE during a pregnancy, at birth, during childhood or more rarely, in adolescence.