Background: Congenital hypothyroidism (CHT) may be viewed as a relatively easy condition to diagnose and treat. However, for the parents who are contacted with the neonatal screening results the news can be devastating, and the quality of information provided can be very variable.
Objective and hypotheses: We aimed to explore the experience of parents at the time of diagnosis, and ascertain how we could improve this.
Methods: In association with the British Thyroid Foundation, our regional service organised a family education day, followed by a nationwide web-based questionnaire to ascertain the views of families regarding their experiences. Questions included how and by whom the diagnosis was made, when treatment was initiated and what information they were given at that time.
Results: One hundred people responded to the questionnaire. Seventy percent said they were first given the diagnosis by a doctor, and 70% were seen at the local hospital on the same or next day, although 18% were seen later than 4 days after diagnosis. Seventy percent felt that the doctor clearly explained the diagnosis and its implications, 38% were given comprehensive written information and 4% were given information about support groups. Ninety-three percent of families would have valued being put in touch with other parents of children with CHT. Common responses to free text questions were feelings of isolation, shock and fear for the future, and a lack of information and coordinated follow up. Positive points included receiving reassurance about the long-term outlook and spending time with a knowledgeable professional.
Conclusion: Whilst we inform our patients and families about rare and complex medical diagnoses, perhaps we underestimate the need for equivalent input into what we may consider to be a relatively simple condition. We clearly need to provide more written information and support to our patients with CHT at the time of diagnosis.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology