Bruck Syndrome Charity 

Bruck Syndrome is a rare genetic disorder characterised by a combination of brittle bones (osteogenesis imperfecta) and joint contractures. It typically manifests in infancy or early childhood, affecting bone strength and joint mobility.

To understand the reality of Bruck Syndrome, you only need to hear the story of eight-year-old Elisa. 

Elisa lives with a severe form of Bruck Syndrome. She experiences extreme bone fragility, leading to multiple, recurrent fractures. In just the last 15 months, her tiny body has endured fractures to her femurs, shoulders, pelvis, and tibia, requiring multiple intense surgeries, including the rodding and nailing of her bones. 

The physical toll has been immense. Over the past year, Elisa’s mobility has significantly declined. She experiences severe, ongoing pain and is now fully reliant on a wheelchair, unable to bear her own weight.

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Despite her complex medical condition and the intense pain she endures, Elisa shows remarkable emotional strength, positivity, and resilience. She is bright, eager to learn, and always tries to find a way to engage with her world.

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Yet, the constant cycle of fractures, hospital admissions, surgeries, and long recoveries has severely interrupted her childhood. She misses her friends and her education.

Elisa’s journey highlights the profound challenges families face: the need for specialised equipment, the fight for appropriate educational support, the necessity of complex, multi-disciplinary medical care involving dozens of specialists, and the heavy emotional toll.

Our aim is to relieve the need and protect the health of individuals, their families, and carers affected by Bruck Syndrome across the UK for the public benefit. As a registered charity, we work to achieve this through our key charitable aims:

Providing Active Communication

We offer friendship and reassurance to those diagnosed with Bruck Syndrome to reduce their social isolation.

Raising Awareness

We raise awareness of Bruck Syndrome and its implications for the individual, their family, and the public

Promoting Knowledge

We promote understanding and acknowledgement of Bruck Syndrome within the medical profession and support services.

Encouraging Research

We encourage research into potential treatments for Bruck Syndrome and ensure the dissemination of useful results to the public

We have a clear vision for supporting the Bruck Syndrome community. Our goal is to build a future where:

No one feels alone

Through our planned moderated online support group and listening and signposting service, we will create a community that offers understanding and peer-to-peer support.

Everyone has access to help

Our grant-making programme will aim to relieve financial pressure, helping families access the vital therapies and equipment they need.

Knowledge leads to better care

By funding research and educating healthcare professionals, we will contribute to improved diagnosis, better treatments, and a higher standard of care for all those affected by Bruck Syndrome.