Opinions

Supporting people who live with bones that break

Written by: Patricia Osborne, Chief Executive Officer, Brittle Bone Society

Published: 27/05/2014

Osteogenesis Imperfecta (OI) is a genetic bone disorder characterised by fragile bones that break easily.

A person is born with this disorder and is affected throughout his or her 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.

In more severe cases, restrictive pulmonary disease can occur. OI is caused by a genetic mutation that affects the body’s production of collagen, which can be found throughout the body, especially in a person’s bones and other tissues.  Since the charity launched from a modest council house in Dundee 46 years ago, the BBS remains the sole UK charity offering unique support to people with this condition from their base in Dundee.

Every year, the Brittle Bone Society promotes Wishbone Day, held this year on 6 May, which was introduced by friends in Australia who took the wishbone logo and the colour yellow and designed a people led campaign to inform the world about living with bones that break, in all the varying forms that this condition can bring, but with an emphasis on strength and positivity.

A spin of the positive awareness campaign has been a number of projects prefixed with the OI CAN brand. The charity host awards events each year and recognize members who have achieved something special to them despite difficulties that many are faced with.

Wishbone Day is not about fundraising although some school children just cannot resist baking yellow cakes and sending in donations, but on a serious note the BBS recognise that being rare often means being overlooked. To combat this, the Brittle Bone Society devised an educational information pack and contacted schools with Oliver and Olivia Isaacs the OI teddy bears to help young children understand more about rare disease.

The Brittle Bone Society offers financial support to help with expensive mobility equipment, fund educational events and conferences, provide medical fact sheets, networking opportunities and signpost members to other services.

On the policy front, the UK Rare Disease Plan offers hope to people with OI and the charity have taken part in many discussions and consultations across the devolved nations to help shape and influence the outcomes. The Scottish section of this document is nearing completion and there are hopes to establish equality of care, collaboration across borders, a holistic approach to diagnosis and treatment of rare conditions; recognition of the need for empowerment and involvement of patients, focus on relationship building between specialists clinicians and science and research – all of which the Brittle Bone Society tries to champion where resources allow. Information and data systems and registers are vital. The BBS are working with the Nuffield Institute on a project called RUDY that will track many rare bone conditions including OI, regardless of the type people are born with.

In the meantime, check out this film about our calls to support vital new research and see further examples of some of the support we offer to people affected by OI.

Brittle Bone Society Website

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