“There Are Hills and Valleys”: Experiences of Parenting a Son With X-Linked Retinoschisis

Turriff, Amy; D'Amanda, Celeste; Biesecker, Barbara B.; Cukras, Catherine A; Sieving, Paul A.

doi:10.1016/j.ajo.2019.11.023

Cited by 3 publications

(4 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Parents were concerned that the impairment would affect the lives of other family members. Consistent with prior studies, we found that learning the diagnosis initiated a response similar to the reactions of a traumatic crisis, for example, feeling of losing control, loss of a worthy life for the child and loss of the family to be 5 10 11. This reaction is quite identical throughout the parents’ descriptions of their experiences and stories, despite the variation in the diagnosis given.…”

Section: Discussionsupporting

confidence: 87%

“…The diagnosis is a milestone, which, in many aspects, outlines the prognosis of the disease. Transitioning to being a parent of an infant with a visual impairment or blindness can cause significant stress as parents negotiate the many challenges associated with caring for their child, and the implications of the impairment or disability for their child and family 5. It is therefore essential that the parents receive support and help around the time of diagnosis.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Support needs around the time of diagnosis of parents caring for an infant with visual impairment or blindness in Denmark: a qualitative study

et al. 2023

View full text Add to dashboard Cite

ObjectiveThe whole family is affected when an infant is diagnosed with visual impairment or blindness. We aimed to describe the support needs of parents around the time of diagnosis.DesignWe used a descriptive qualitative method based on the theory of critical psychology and conducted five semistructured interviews with a total of eight parents of children under the age of 2 years who had been diagnosed with blindness or visual impairment before the age of 1 year. Thematic analysis was used to extract primary themes.SettingThe study was initiated by a tertiary hospital centre specialised in the ophthalmic management of children and adults with visual impairment.ParticipantsEight parents representing five families caring for a child under the age of 2 years with visual impairment or blindness participated in the study. The parents were recruited from the Department of Ophthalmology at Rigshospitalet, Denmark in relation to appointments in the clinic or by phone or email.ResultsWe identified three themes: (1) recognition and reactions during the time of diagnosis; (2) family, network and struggles; and (3) interaction with healthcare professionals.ConclusionThe main lesson for healthcare professionals is to bring hope at a time when all hope may seem to be lost. Second, a need to direct attention to families with no or sparse supportive networks. Third, coordinating appointments between hospital departments and at-home therapies and reducing the number of appointments to allow parents time to establish a family relation with their child. Parents respond well to competent healthcare professionals who keep them informed and who see their child as an individual rather than as a diagnosis.

show abstract

Section: Discussionsupporting

confidence: 87%

Section: Introductionmentioning

confidence: 99%

Support needs around the time of diagnosis of parents caring for an infant with visual impairment or blindness in Denmark: a qualitative study

et al. 2023

View full text Add to dashboard Cite

show abstract

“…This was evident in discussions regarding expectations of future therapies, where mitochondrial donation and mitochondrial replacement therapy were mentioned by mothers, as a method of preventing transmission of the mutation. Parental guilt and blame, particularly for mothers, has been widely reported for a number of inherited conditions (15,16). Genetic counselling, addressing risks of transmission and reproductive options, is a key support service that should be provided to LHON families (9).…”

Section: Discussionmentioning

confidence: 99%

The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative Study

Chen¹,

Holzinger²,

Taiel³

et al. 2022

Journal of Neuro-Ophthalmology

View full text Add to dashboard Cite

Background: Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial disease characterized by severe bilateral vision loss and chronic visual impairment. The objective of this study was to comprehensively explore the impact of LHON on the lives of patients and their relatives at the time of diagnosis and now. Methods: Qualitative study design with 8 focus group interviews conducted in France, Germany, the United Kingdom, and the United States, involving 17 individuals with m.11778G.A mutation and their relatives. Separate focus groups for patients and their relatives were facilitated by a moderator in French, German, or English. Qualitative analysis of interviews using a pre-defined analytical framework. Results: Participants reported feeling devastated by the diagnosis of LHON after a lengthy and worrisome diagnostic journey. Patients were frustrated by the loss of autonomy, which also affected their relatives. Participants described challenges across several domains: physical capabilities, emotional well-being, interpersonal relationships, work and studies, finances, and recreational activities. Access to disability allowances, vision aids, and funded or subsided idebenone varied by country, resulting in unequal financial impact. Patients are hopeful for therapy that would restore autonomy and improve their ability to enjoy a fulfilling life, while alleviating the demands placed on their relatives. Conclusions: The impact of LHON extends beyond visionrelated activity limitations. Addressing the psychosocial impact of LHON and helping patients and their relatives adapt and cope with vision loss are vital. As part of this, an accurate and timely diagnosis is important to enable early intervention. Further investigation of specific unmet needs is required.

show abstract

“…While Stargardt patients identified these same activity limitations, their most common symptoms ( photosensitivity and loss of central vision) differed quite a bit from RP (Roborel de Climens et al 2021). Last, limitations with sports and driving were common concerns of parents whose boys have X-linked retinoschisis (Turriff et al 2020). Five qualitative studies (Table 3) examined other aspects of living with IRDs like coping and views on work (Hayeems et al 2005;Bittner et al 2010;Ehn et al 2019Ehn et al , 2020Zelihić et al 2020).…”

Section: Insights From Qualitative Research In Patients With Irdsmentioning

confidence: 99%

Beyond the NEI-VFQ: Recent Experience in the Development and Utilization of Patient-Reported Outcomes for Inherited Retinal Diseases

Durham

Banhazi

Patalano

et al. 2022

Cold Spring Harb Perspect Med

View full text Add to dashboard Cite

show abstract

“There Are Hills and Valleys”: Experiences of Parenting a Son With X-Linked Retinoschisis

Cited by 3 publications

References 36 publications

Support needs around the time of diagnosis of parents caring for an infant with visual impairment or blindness in Denmark: a qualitative study

Support needs around the time of diagnosis of parents caring for an infant with visual impairment or blindness in Denmark: a qualitative study

The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative Study

Beyond the NEI-VFQ: Recent Experience in the Development and Utilization of Patient-Reported Outcomes for Inherited Retinal Diseases

Contact Info

Product

Resources

About