Parental Experiences of Receiving a Rare Genetic Disease Diagnosis for Their Child on Diagnosis Day

Literature exploring the experiences of parents of children with rare genetic conditions on "Diagnosis Day," the day a diagnosis is given, is limited. We created a survey to further explore these experiences. Parents of children with rare genetic conditions 18 years or younger were recruited through rare disease organizations and social media. Seven hundred and seventeen participants, representing 229 rare diseases, met the inclusion criteria. Most parents received their child's diagnosis in person. Other parents received the diagnosis by phone or telehealth. Most parents (73%) were satisfied with where the diagnosis was given. Parents experienced a range of emotions on Diagnosis Day, most commonly hopelessness, sadness, confusion, and relief. With a longer time to diagnosis, participants reported more positive emotions and fewer negative emotions (p < 0.001). The information parents considered most important on Diagnosis Day included details about quality of life, medical management, inheritance, and connecting with other families. Nearly half of parents felt that providers could have done something different when delivering the diagnosis, including providing specific information on the diagnosis, asking parents to decide where results are given, asking about including other family members, and providing compassion and empathy. Together, these findings can be used to improve the Diagnosis Day experience for parents.