What is Osteogenesis Imperfecta and what are the symptoms of Samantha Renke’s brittle bone disease?
People with Osteogenesis Imperfecta can also have frequent fractured bones and short stature among other medical problems
OSTEOGENESIS Imperfecta is a genetic condition that is present from birth.
But what are the symptoms and how can be diagnosed? Here are the details...
What is Osteogenesis Imperfecta?
Osteogenesis Imperfecta, also known as Brittle Bone disease, is a genetic condition characterised by bones that break easily, often from little or no apparent cause.
It 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.
The condition can vary quite drastically from person to person so a classification system has been identified to describe the different types of OI.
These are commonly used to help describe how severely a person with OI is affected.
What are the symptoms of Osteogenesis Imperfecta?
Symptoms include frequent fractured bones, muscle weakness, hearing loss, fatigue, joint laxity, curved bones, scoliosis, blue sclerae.
People with the condition can also have brittle teeth and short stature among other medical problems.
To diagnose OI, doctors will typically do x-rays to check for fractures and bone changes.
In some cases genetic testing is possible, but not undertaken routinely.
How is Osteogenesis Imperfecta treated?
The main treatment of OI is pamidronate, which is a bisphosphonate drug that prevents the loss of bone mass.
Pamidronate strengthens the bones by increasing bone density and is used alongside Vitamin D supplements which help the body to absorb calcium.
The OI service at GHOST offers advice, support and help for those who have been diagnosed with OI, and with some adaptations, kids and young people can lead a near-normal lifestyle.
What has Samantha Renke said about Osteogenesis Imperfecta?
Samantha Renke is a disability campaigner and actress, who recently starred in advert for Maltesers.
Samantha, 32, has OI, but doesn't let it stop her from living her life to the fullest.
In 2015, she told The Telegraph newspaper that she enjoys dating, but is fiercely independent.
She said: "Not to blow my own trumpet but I’m a good dresser, people think I’m attractive, I have blonde hair and blue eyes.
"I do attract good looking guys. I have had people be like, 'oh they’re just friends right'?
“They can’t comprehend someone muscly or attractive would possibly be with me. But it’s like, what do you think we do on weekends? Play chess? It goes back to their own insecurities that they can’t visual dating someone in a wheelchair and if they couldn’t how could anyone else?”
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"We’re [people with a disability] are like everyone else. We do want to date and we’re probably more comfortable in our own skin that a lot of people.
"I have worked very hard on becoming independent because I want a lover not a carer.
"If you do embark on a relationship with someone in a wheelchair, you don’t necessarily have to help them domestically."