Usher Syndrome
Usher syndrome is a complicated whole-of-life experience, and this book is about us and by us to unpack these complexities.
About The Book
Table of Contents
About The Author
About Open License
What is Usher syndrome and how does it shape life experiences, and what strategies can enhance communication and well-being?
Usher Syndrome: About Us, by Us - is a comprehensive resource created by those with lived experience, lived knowledge and lived expertise of Usher syndrome. It explores the syndrome’s prevalence, types, and the challenges of parenting, learning, working, and aging with Usher syndrome. The book also covers essential communication strategies and wellness practices. Designed for health and social care students, professionals, practitioners and policymakers, it highlights the lived experiences and needs of individuals with Usher syndrome, ensuring a better understanding among social contacts, colleagues, and support workers.
Ideal for professionals and students in disability studies, health and social care, educators, policymakers, and families seeking deeper insights into living with Usher syndrome.
What is Usher syndrome and how does it shape life experiences, and what strategies can enhance communication and well-being?
Usher Syndrome: About Us, by Us - is a comprehensive resource created by those with lived experience, lived knowledge and lived expertise of Usher syndrome. It explores the syndrome’s prevalence, types, and the challenges of parenting, learning, working, and aging with Usher syndrome. The book also covers essential communication strategies and wellness practices. Designed for health and social care students, professionals, practitioners and policymakers, it highlights the lived experiences and needs of individuals with Usher syndrome, ensuring a better understanding among social contacts, colleagues, and support workers.
Ideal for professionals and students in disability studies, health and social care, educators, policymakers, and families seeking deeper insights into living with Usher syndrome.
- Cover
- Half-Title Page
- Title Page
- Copyright Page
- Acknowledgements
- Abstract
- Table of Contents
- Learning objectives
- 1 About us, by us
- Introduction
- Annmaree
- Emma
- Emily
- Usher syndrome
- The knowledge gaps
- Why now?
- Why us?
- Deafblindness-dual sensory impairment
- Identity
- A brief note on Deafblind culture
- Model of disability
- How to use this book
- Introduction
- 2 The Usher syndrome basics
- Introduction
- Data
- Types of Usher
- Emma
- Diagnosis
- Hearing loss: More about sensorineural hearing loss
- Annmaree
- Vision loss: More about retinitis pigmentosa
- Annmaree
- Balance disorder: More about vestibular dysfunction
- Genetics of Usher syndrome
- Treatments and cures
- Consequences of Usher
- Important consideration
- Deafblindness-dual sensory impairment
- Definition
- 3 Usher syndrome, genetics and more
- Introduction
- Usher syndrome types
- Usher syndrome type 1
- Usher syndrome type 2
- Usher syndrome type 3
- Diagnostic pathways and considerations
- Newborn hearing screening
- Genetic testing
- Early intervention
- Audiological intervention
- Vestibular dysfunction
- Fatigue
- More on genetic diagnoses
- The need for collaboration and research balance
- The role of the geneticist and genetic counsellor
- Geneticist
- A geneticist is a medical doctor who specialises in the study of genes, genetic variations and heredity in living organisms. Geneticists focus on understanding how genes influence health and disease, playing a key role in diagnosing and treating genetic conditions. The geneticist is responsible for ordering appropriate genetic tests based on the patient’s clinical symptoms and family history.
- Genetic Counsellor
- A genetic counsellor is a healthcare professional with specialist knowledge in human genetics, counselling and health communication. They provide critical information and support to individuals and families affected by genetic conditions. Genetic counsellors typically work as part of a multidisciplinary team that includes a geneticist. The genetic counsellor meets with the family to explain the geneticist’s findings in a way that is easy to understand. They discuss inheritance patterns, risk factors for other family members, and the long-term implications of the condition. They offer support to help individuals and families navigate the emotional aspects of the diagnosis.
- Usher syndrome research
- Clinical Research
- Gene therapy
- Gene agnostic treatments
- Natural history studies
- Registries
- Usher syndrome is a spectrum
- Annmaree
- Ongoing challenges
- 4 Complexities and challenges of diagnosis
- Introduction
- Navigating the impact of diagnosis
- Emily
- The pros and cons of an early diagnosis
- Underdeveloped pathways for paediatric Usher syndrome
- Low expectations
- No longer living fully in the present
- Generational perspectives and the question of independence
- Challenges of diagnosis
- Emma
- Diagnostic clarity
- How much information is right?
- The research results
- Initial reactions
- To summarise
- Annmaree
- Diagnosis disclosure
- Annmaree
- Emma
- Chloe
- Emily
- How and when to tell: A guide for parents
- The following information was developed by UsherKids Australia and is used with permission:
- Give yourself time
- Tailor it to your child
- Younger children
- Older children
- WHO should have the conversation?
- WHEN is the right time?
- Focus on what’s relevant now
- Be honest but hopeful
- Use analogies and visuals
- Avoid vague reassurances
- Help your child to develop confidence and independence
- Support children with Usher syndrome every step of the way
- Ongoing challenges
- When disability is mistaken for incapacity
- Emma
- 5 Parenting 1: Complexities of parenting children with Usher syndrome
- Emily
- Historical context: Parenting children with Usher syndrome
- Diana also recalls ‘the body worn hearing aid, and headphones during Claire’s lip-reading lessons with amplified sounds’.
- Early intervention and the parental role
- Psychological and social impact on parents
- Siblings and family dynamics
- Navigating school and education
- Adolescence and independence
- Driving with Usher syndrome
- Understanding the licensing process
- Outcome of medical review
- Ongoing vision monitoring
- Navigating the process together
- Conclusion
- 6 Parenting 2: Parenting, psychosocial needs and perspectives
- Introduction
- Emily
- The clinical awareness of Usher syndrome among allied health professionals
- The support needs of parents of young children with Usher syndrome
- Social needs
- Informational needs
- Practical needs
- Emotional needs
- The experiences and support needs of youth with Usher syndrome
- Research priorities of the inherited retinal disease community in Australia
- A multidisciplinary clinic approach
- Parenting as well as living with Usher syndrome
- Annmaree
- Emma
- Conclusion
- Introduction
- 7 Siblings, spouses, offspring and supporters
- Introduction
- Siblings
- Khloe
- Partners and family members
- George
- Children of parents with Usher syndrome
- Tom
- Supporters and carers
- Jess
- Liz
- Positives of living in an Usher family
- Conclusion
- 8 Complexities of health and well-being for people with Usher syndrome, their families and carers
- Introduction
- Health and well-being challenges for individuals with Usher syndrome
- Diagnosis: Challenges, changes and consequences
- Diagnosis is an emotional journey
- Communication risks
- Health literacy for people with Usher syndrome
- Social health threats
- Physical health threats
- Psychological and cognitive risks
- Delirium
- Annmaree
- Public health threats
- Growing older
- Multiple disability and co-occurring conditions
- Emma
- Annmaree
- Complexities from balance disorder
- Fatigue and fluctuation in function
- Fatigue syndrome
- Impact on the family: Living with someone with Usher syndrome
- Carer well-being
- Conclusion
- 9 Complexities of health and well-being: Seeing things that aren’t real
- Introduction
- Visual hallucinations
- About Charles Bonnet
- Risk factors
- How common is Charles Bonnet syndrome?
- Annmaree
- Nature and forms of visual hallucinations
- Adjustment
- Mutability
- Causal mechanisms
- Challenges
- Management
- Conclusion
- 10 Communication 1: Relational aspects of language and assistive devices
- Introduction
- Annmaree
- Receptive/lipreading/facial expression/handshapes
- Emma
- Annmaree
- Modifications to communication
- Emma
- Annmaree
- Not all interpreters are deafblind communication skilled
- Reduced vision, reduced signing frame
- Communication methods and equipment
- Communication failures rife in health and social care
- Examples in the health sector
- The importance of redressing communication failures
- Conclusion
- Introduction
- 11 Communication 2: Healthcare and the role of social-haptic communication
- Introduction
- Communication, healthcare and Usher syndrome
- Russ
- Hospital haptices
- Cochlear implant (CI) operation
- Sao Paulo, Brazil, 2015
- Using hospital haptices in healthcare settings
- Identification of professional role
- Confirmation
- Emotions
- Different measurements
- Duration
- Haptemes
- Harnessing our own capacities
- Further considerations
- One-to-one communication by narrow vision field and using hearing aids
- To get attention, distance, and direction
- Conclusion
- 12 Communication 3: An interpreter’s perspective
- Introduction
- About Ros
- Empathy in communication
- In the shoes of a person with Usher syndrome
- Always use accredited interpreters
- Sarah
- Law and policy
- Working with interpreters
- Spoken communication strategies
- Esther
- Visual communication strategies
- Note on deaf relay interpreters
- Deafblind community and culture
- Taboos
- Setting up space for communication
- First meeting
- Adaptations to approach
- Adaptations to environment
- Vincent
- Communication strategies to try
- Isabel
- Seek to understand the person
- Robert
- Vance
- Ben
- Boosting communication skills
- Conclusion
- 13 Better health and well-being
- Introduction
- The triple threats
- An inclusive approach to better health and well-being: Eight pillars
- 1. Recognition
- 2. Communication
- 3. Accessibility
- 4. Collaborative care
- 5. Preparedness
- 6. Supporting individuals and families/carers
- 7. Empowerment
- 8. Breaking binaries
- A special note: Understanding and supporting the grief journey
- It’s unpredictable
- It’s complicated
- Ontological security: The sense of safety
- Simon
- Impacts of Usher syndrome
- Living with moving goalposts
- The ongoing grief/loss cycle
- Coping strategies
- Technology and support
- Family and relationships
- Final thoughts
- Conclusion
- 14 Supports for better everyday living
- Introduction
- Support in everyday life
- Work life
- Getting around
- Reading vision and Braille
- Accessing support
- Support at medical appointments
- Human support is critical
- Conclusion
- 15 Snapshots of diversity and capabilities in the Usher community
- Introduction
- Bea
- Traynor
- Jane
- Natalie
- Peter
- Jacqueline
- Stephen
- Gail
- Wes
- Conclusion
- Introduction
- Suggested learning activities
- References
- Resources
- Recommended further reading
- Index
Annmaree Watharow, a Lived Experience Research Fellow at the University of Sydney, explores Usher syndrome’s impact in her life, family and work. She is the author of two books on dual sensory impairment.
Emily Shepard is the parent of a teen with Usher syndrome, as well as co-founder and CEO of UsherKids Australia, a support organisation for families of children and young people with Usher syndrome.
Emma Boswell who herself has Usher is the National Manager of Usher Services at a UK charity, she is also the Chair of the Usher Network under Deafblind International. She advocates for and improves support for people with Usher syndrome.
