We are grateful to many people who made this study possible; putting them in any kind of order is impossible. They were all essential.
Firstly however, we are very grateful indeed to all the participants who gave their time, both patients and their families, and were so ready to talk to us and allow us to learn something of their lives.
We are also grateful to the hospitals and the hospital staff who helped and supported us, most especially;
Professor Timothy Barrett, Birmingham Children’s Hospital, who was our key medical contact and helped us navigate the ethics process
Our other principal investigators who gave us their time and support and allowed us to visit their clinics:
Dr Tarek Hiwot, Queen Elizabeth Hospital Birmingham
Dr Jane Valente, Great Ormond Street Hospital London
Mr Martin Snead, Addenbrooke’s Hospital Cambridge
They all have more than enough to do without helping us. We are very grateful for their time.
Other clinical staff also supported us and allowed us to visit their clinics, we are grateful to all and especially to Mr Robert Henderson. We would also like to thank all the staff in hospital research departments who supported us in navigating sometimes complex systems.
We would like to thank all members of the advisory committee and especially Dr Isabel Clare for her support throughout. We thank Yemi Tadesse from Sense for her input in the early months. We are also grateful for the contributions of Dr Anna McGee from Sense for her support, advice and encouragements and Dr Graeme Douglas, University of Birmingham, who provided advice and inspiration in his support for the project.
Glossary and abbreviations
Chorionic Villus Sampling – a medical test which can identify certain abnormalities in an foetus by taking a sample of the placenta.
Ciliopathy – a disease of the cilia - ‘hairs’ which perceive sensory function. Alström, Bardet-Biedl, and Usher are ciliopathy conditions.
Communication professional – a person whose job is to act as interpreter or communication intermediary, in this case for people who are deaf or deafblind and use communication methods other than speech
Cryotherapy – the use of low temperature in medical treatment. In this report it refers especially to the use of a cold probe to freeze a detached or detaching retina in place.
Deafblind manual – a method of spelling out messages on a deafblind person’s hand, letter by letter.
Hospital Passport – a document listing a patient’s needs, communication methods, likes and dislikes and sometimes more, for someone who cannot communicate well themselves or who needs to show it to many people.
Intervenor – an individual working in education or social care to support the needs of a congenitally deafblind person and give them access to their setting
Makaton – a sign language vocabulary system especially designed for people with learning disability
Retinal dilation – a procedure using eye drops to make the pupil expand so that the retina can more easily been seen by a doctor. As the retina is forced to expand, more light gets in and patients are very affected by glare and cannot see clearly.
Retinal pigment epithelium – the retinal layer that nourishes retinal visual cells
This study was born from informal discussions with people with rare syndromes (particularly those with sensory impairments) who were describing difficulties they were having as patients. In many cases they were already carrying a large burden of problems; they had multiple, complex individual symptoms, and they were often aware their conditions could or would deteriorate; they were dealing with a world unfriendly to people with sensory impairments.
The research study was therefore set up to investigate the following issues;
How do people with sensory impairments (and their families/carers) experience their attendance at clinics in relation to their rare syndromes?
What are the factors in relation to clinic type, environment, and attitude that affect this experience?
What makes the delivery of services efficient and effective for people with sensory impairments and their families, across and between clinics and what factors might inhibit this?