Osteogenesis Imperfecta
Osteogenesis Imperfecta (OI)
Appointments: Outpatients Coordinator 0117 342 7871
The Service
The Bristol Osteogenesis Imperfecta (OI) Service provides expert
care to children and young people with a diagnosis of OI. Our aim
is to provide expert care to help affected children and young
people and their families experience improved outcomes and quality
of life, with fewer complications.
Our Service sees children with OI from across the South West of
England and further afield. This is in a multidisciplinary clinic
led out of Bristol, reaching out elsewhere in the South West.
Care is delivered in clinics, home and and community and hospital
stays for specialised treatments, intensive therapy inputs and
expert orthopaedic surgery.
NHS England commission Bristol as a provider trust as a centre
for Complex, Severe or Atypical Childhood Osteogenesis Imperfecta.
As one of the four such centres in England, we work together to
improve care.
Our expert care is recognised internationally through our
membership as a Healthcare Provide in the European Reference
Network for Rare Bone Disease.
Our Service offers patients and their families to be involved in
leading research and recruit to several international multicentre
trials exploring new treatments in OI.
We work closely with the Brittle Bone Society for patient
support and to provide Patient Information Days.
The Condition
Osteogenesis Imperfecta (OI) or Brittle Bone Disease is a
genetic condition characterised by bones that break easily. It can
be mild or severe and this varies from person to person so a
classification system has been identified to describe the different
types of OI. For example, a person may have just a few or as many
as several hundred fractures in a lifetime. As well as frequent
fractured bones, people with OI often have muscle weakness, hearing
loss, fatigue, joint laxity, curved bones, scoliosis, blue sclerae,
dentinogenesis imperfecta (brittle teeth), and short stature
amongst other medical problems. These all mean that care of a child
or young person with OI benefits from input form a number of health
professionals.
We also see children with rare bone disorders other than OI,
either in our main endocrine clinic or in your Bristol Skeletal
Dysplasia Service. Please see the endocrine tab above.
The Team
Our multidisciplinary team brings a range of skills to OI
care
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Dr Christine Burren
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Consultant, Paediatric Endocrinology
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Dr John Barton
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Consultant, Paediatric Endocrinology
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Dr Jacqui Clinch
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Consultant, Paediatric Rheumatology
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Professor Sarah Smithson
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Consultant, Clinical Geneticist
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Mr Simon Thomas
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Consultant, Paediatric Orthopaedics
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Ian Tucker
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Paediatric Endocrine and OI Clinical Nurse Specialist
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Hannah Bassett
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Senior Paediatric Physiotherapist
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Rotational
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Physiotherapist
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Lisa Mills
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Senior Paediatric Occupational Therapist
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Rotational
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Paediatric Occupational Therapist
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Dr Rebecca John
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Consultant Paediatric Dentist
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Dr Cara Davies
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Paediatric Clinical Psychologist
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Rhian Augustus
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Social Worker
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Tina Edwards
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OI Service Administrator Tel: 0117 342 5558
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Please click here to find out more
