What is Osteogenesis Imperfecta?
Osteogenesis Imperfecta (OI) is a rare disorder of collagen which makes the bones weak and fragile, and results in bones being more likely to fracture at any time sometimes without trauma. It is a multi-system disorder which may result in bony deformity, can affect growth, and may cause pain and low levels of stamina. Teeth and hearing may be affected. OI can be divided into different types, and the severity of OI can vary significantly between children.
Motor development and functional abilities can be affected and on-going monitoring and advice regarding management of OI is essential for the best long term outcome.
For more information about OI we have a number of leaflets produced in association with the Brittle Bone Society and the Paediatric Osteogensis Imperfecta National Team (POINT).
What is the Osteogenesis Imperfecta Service?
The OI Service at Great Ormond Street Hospital (GOSH) is a multidisciplinary team that offers specialist advice, on-going management, and support for children and families, where there is a diagnosis of OI.
We contribute towards the diagnosis of OI, and discuss with you and your child what it might mean to have OI. Through a process of assessment and consultation, we make recommendations that will support your child in their ongoing development and practical day-to-day management.
The service is one of four highly specialised services in England for children with OI.
Members of the team
The team have specialist knowledge and expertise in the medical and practical management of children with OI. The team includes the following professionals. Who you see at an appointment will vary depending on your child’s needs.
Consultant paediatric doctors
They review medical details including investigations, diagnostic information and contribute to the ongoing monitoring of your child. All the consultants have experience in OI and come from different specialties such as endocrinology, neurology, and orthopaedics.
Physiotherapists and Occupational Therapists
They assess how your child is managing on a day-to-day basis with life skills, including physical activity and self-care. They will consider how your child is managing at home and in school. The therapy team offer strategies, activities and exercises to promote independence. Therapists may be involved in rehabilitation, for example following an acute injury or after orthopaedic surgery.
Clinical Nurse Specialist
They support families and children through investigations and medical treatments, and assists with any health and medical queries.
They consider the psychological well-being and resources of children and families living with OI and offers support, advice, treatment and onward referral where necessary.
They provide emotional and practical support for the child and their family, advocating on a child or family’s behalf and provide consultation and advice.
They organise appointments and are a point of contact if you need to speak with another member of the team.
The OI team may refer your child onto other professionals within GOSH. This could include the dental team, orthotics department or other specialist doctors.
Who we see
We see children from birth to 18 years of age who have a confirmed diagnosis of OI as well as those who need further specialist assessment to establish diagnosis. We tend to see children from South East England but can see them from any location in the UK if referred.
In most instances where there is a confirmed diagnosis of OI, children will remain under the care of GOSH as a specialist service, alongside support and input from their local team.
You can find more information about referrals here.
The clinic visit
Before the first appointment
We will ask the referrer to send results of any investigations your child has had and other relevant information available, such as x-rays. Sometimes we ask for more investigations to be done before your child comes to an appointment with us. These may be done before the appointment or sometimes on the same day. Once all this information has been provided, we will arrange an appointment time with you.
These may require you to be at the hospital for most of the day. This is to allow time for any investigations to take place, for your child to meet all members of the team, and have assessments carried out.
There are many cafes and restaurants in the area but we advise that you bring snacks, drinks and other essentials such as nappies and toys.
For information on travelling to the hospital and parking, please refer to the directions, map and parking page.
These may last up to three hours but are shorter when no investigations are required.
Your child will be required to have regular investigations, which we try to organise on the same day as your appointment. The administrator will inform you, usually two to three days before the appointment, what time to attend these.
When you meet the team, a history or update of how your child has been will be taken. This will include information about any fractures or pain your child may have had. It may be helpful to keep a note of this for the appointment. The doctors and nurses will carry out a general examination of your child, discuss any questions or concerns you may have and will explain the results of any investigations that have taken place. The use of drug treatments may be discussed.
When your child is older, they will be encouraged to spend a short time on their own with the doctor to discuss any questions they may have.
As part of the assessment and for your child’s clinical record we may ask you for permission to video your child.
The Occupational Therapist and Physiotherapist will assess your child’s physical and practical abilities. The therapists are very experienced in how to assess and handle children who have OI. However, therapists will be guided by you and your child about the best way to manage this.
The therapists will look at how your child is moving, how strong they are and how they are getting around. They will also assess how your child manages activities such as dressing, writing, and playing. Children may like to bring a pair of shorts for this assessment.
For young babies, the therapists will advise on handling and management. They will be able to discuss strategies that you may find useful at home, to make activities such as bathing and dressing easier. Therapists also advise on activities to promote your child’s motor development.
For older children, the therapists will be able to provide advice around posture, mobility, and daily living skills.
The Psychologist will want to better understand you and the impact of the OI on your child and family, and may talk with you about your family system and the strengths, resources and challenges it faces. If you prefer to have these conversations separately from your children this can be arranged – please ask the administrator before your clinic appointment. The Psychologist may use questionnaire measures to help identify children and families who could benefit from additional support.
A social worker can be available for practical and emotional support if required.
As GOSH is a teaching hospital, there may be visiting professionals present during your appointment; however, we will consult with and seek your agreement for this.
Following completion of the assessment the team will discuss their findings with you and your child. A follow-up plan will be made. Children are usually followed up six monthly or annually depending on their needs.
Following feedback, the therapists and/or psychologist may spend a little longer with some children to give specific advice on activities, or to spend a little more time in discussion.
A multidisciplinary report will be written and sent to you, your family doctor (GP) and paediatrician. If it is beneficial to your child, the report can also be sent to any other professional as advised by you.
Some team members are able to offer an outreach service to come to see your child at home, school or when in another hospital. This occurs in collaboration with your local team members where possible.
These tend to be offered to babies with a new diagnosis, for children needing additional support/advice in the nursery/school setting, and for one-off problem solving.
Working with local teams
The OI service supports your child by offering specialist advice and information to you and your local team. All children remain under the care of their local paediatrician, therapy and support services.
Any emergencies, such as fractures, need to be managed by your local hospital’s Accident and Emergency Department. If staff at the local hospital have questions about your child’s fracture management, they need to call the on-call orthopaedic registrar at GOSH.
Please contact the OI team secretary
Tel: 020 7405 9200 ext 5293