16 hours ago
Q: What rare disease do you have?
A: Osteogenesis Imperfecta (OI) also known as Brittle Bone or Glass Bone Disease. It resulted from a genetic mutation that affects production & quality of collagen which is needed throughout the body for healthy: bones, hearing, tendons, ligaments, lungs, muscles, heart, skin, eyes, teeth, and vascular system. Roughly five in every 100,000 people have OI
Q: How does it impact your day-to-day life?
A: The condition is very unpredictable. Fractures and dislocations happen very spontaneously…I’ve broken four ribs at once from a cough; I fractured my finger opening the automatic train door; twice at the movies my foot has broken whilst sitting on the seat; a spontaneous hip dislocation happened without any impact or trauma; hearing loss in my right ear literally happened over night. It’s like having injuries from a car accident, without ever having been in an accident. I carry a “break kit” when I travel and walking aids in my work bag. Sudden hearing loss has been a very big adjustment on my day-to-day life - it has led to a lot of social isolation, loss of confidence, and fatigue. I get very stressed in crowds or on public transport as a slight bump can result in significant fractures. I’ve started training my dog to be an assistance dog to create a ‘safety bubble’ around me- I feel a little safer when my dog is with me
Q: When did you find out you had OI?
A: I was diagnosed later in life at age 40, despite a long history of unusual symptoms like: sudden hearing loss; unexplained fractures & dislocations; debilitating fatigue; muscle weakness. I believe the rarity of the disease contributed to the delayed diagnosis due to lack of awareness by medical specialists
Q: How did you feel when you found out?
A: I was relieved, and I felt validated, knowing a life full of bizarre symptoms wasn’t ‘all in my head’. On the flipside, I’ve had to accept that information &understanding of the condition is limited, and to trust my own experience of what will help or hinder my well-being…see comments⬇️
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