As with many rare conditions its medical terms can be long and difficult to pronounce, Osteogenesis Imperfecta! It is more commonly known as Brittle Bones Disease; while fragile bones are a significant part of the condition, there are many other aspects of the disease that are sometimes overlooked.
Osteogenesis Imperfecta is in fact a heritable disorder of connective tissue due to abnormalities in the collagen gene (COL1A1) which can also affect other parts of the body.
- Hypermobility and joint issues.
- Weakness in tendons and muscles.
- Flat feet
- Kidney Stones
- Gastrointestinal problems
- Hearing loss
- Heart problems
As each person is unique, no one person with Osteogenesis Imperfecta has exactly the same experiences or symptoms and often it varies over a person’s lifetime. There is a wide spectrum of people with Osteogenesis Imperfecta ranging from mild to severe.
It is very important that we all raise awareness of Osteogenesis Imperfecta and its impact on every level so as to enable everybody to obtain the appropriate support. Further details can be found on HMSA website http://hypermobility.org/help-advice/osteogenesis-imperfecta-2/
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