Living with a rare condition can often mean facing challenges that many people have never heard of. In a fascinating interview on Disability Matters, John Comiskey spoke with Coreen Kelday, Support Development Officer at the Brittle Bone Society, about Osteogenesis Imperfecta (OI), commonly known as Brittle Bone Disease.
OI is a rare genetic condition that affects the body’s collagen production, resulting in bones that fracture easily. However, as Coreen explained, the condition is far more complex than many people realise.
“People often think it’s simply about broken bones,” she said. “But OI can affect hearing, teeth, mobility, pain levels, fatigue and overall quality of life.”
The condition varies greatly from person to person. Some individuals may experience relatively mild symptoms, while others may require full-time wheelchair use and ongoing specialist support.
Coreen explained that OI is present from birth and can either be inherited or occur through a spontaneous genetic mutation.
“It can come as a complete shock to families,” she said. “Sometimes there is no family history at all, and suddenly parents are faced with a diagnosis they’ve never heard of.”
Living with a Rare Condition
One of the challenges of OI is its unpredictability. Fractures can occur from activities most people would never consider dangerous.
“I’ve heard people describe breaking a finger while turning on a light switch or fracturing a leg simply by rolling over in bed,” Coreen explained.
Beyond fractures, many people live with chronic pain, fatigue, mobility issues and the emotional impact of managing a lifelong condition.
While treatments such as bisphosphonate therapy can help strengthen bones, there is currently no cure for OI. Ongoing care often involves physiotherapy, occupational therapy, specialist equipment and regular medical monitoring.
The Importance of Support
Founded in 1968, the Brittle Bone Society was the first organisation of its kind in the world and continues to support people across the UK and Ireland.
The charity provides information, advocacy, peer support, educational resources, family events, conferences, equipment assistance and support for research.
For many families, connecting with others who understand the condition can be life-changing.
“When you’re living with a rare condition, you may never have met another person with OI,” Coreen said. “Meeting people who truly understand your experiences is incredibly valuable.”
The organisation also works closely with researchers and healthcare professionals to improve understanding of OI and ensure that the voices of people living with the condition remain at the centre of future developments.
Raising Awareness
Throughout the interview, Coreen stressed the importance of greater awareness of rare conditions.
“Every opportunity to talk about OI helps people better understand the realities of living with a rare condition,” she said.
For anyone newly diagnosed or seeking support, the Brittle Bone Society offers information, practical advice and a welcoming community.
This important conversation serves as a reminder that while Osteogenesis Imperfecta may be rare, the need for understanding, support and inclusion is universal. For more information visit: www.brittlebone.org
This interview aired on Disability Matters on 92.5 Phoenix FM, a programme produced by Blanchardstown Centre for Independent Living (BCIL).
Tune in to Disability Matters Thursdays at 4PM | Repeats: Mon 3AM, Tue 3AM & 7AM | Also available on Mixcloud and on bcil.ie/radio.
Compiled by Valentyna Hordiichuk