Delivered by Ilene Miner at the International Symposium on Usher Syndrome.

Download the presentation slides here.

Miner, I.D.

Licensed clinical social worker and consultant, Los Angeles, CA, USA

Abstract:

Introduction: There were issues raised at the last conference about what providers do and should communicate to parents and patients about Usher Syndrome.

Survey: In the interest of answering that question, a survey was undertaken with adults with Usher and parents of children with Usher. A survey was composed and sent out in two forms: on the Web, and through email. Recipients were informed that only demographic material, current age, age at diagnosis, diagnosis and whether or not they had been referred to a geneticist were being asked. No names were asked.

Questions were asked concerning what and how parents and people with Usher were told about their diagnosis, what information was given to them, and to rate the empathy and interest shown by providers. They were also asked about referrals to support services, what information they had now that was most helpful, and concerns they have for themselves or for the future.

Literature review: No literature was found specific to informing parents of their child's diagnosis of Usher, but there is literature on informing parents of their child's diagnosis of diabetes, and vision impairment. There is literature on the life of people with Usher from the Nordic countries which includes experiences of diagnosis.

Results: The sample was small. Forty surveys were returned, 16 were from parents with children and young adults up to the age of 22. The remaining ones were from parents of adult children with Usher and adults with Usher ranging from age 24 to 66, for whom these questions felt very fresh. Two families filled them out together: the adult with Usher and their hearing sighted parent. Four families had two children with Usher.

Findings: Parental and Usher adult experiences ran the gamut from "as good as can be expected" to "disastrous." There were examples of missed diagnosis and incorrect diagnosis. Most parents felt their providers were fairly empathetic, but they had excellent suggestions about how the experience could be improved, including access to other parents, printed material so parents don't have to look for information themselves, and guidance. Parents are fearful about their children's futures; this applies to parents of adults with Usher as well. Parents referred to the Coalition for Usher Syndrome Research as having filled an important need for them. Some contributions from other countries related to support services may be useful. Issues of coping style and information will be discussed.

There was no funding for this survey.