CHARLOTTE’S STORY

I live with osteogenesis imperfecta, which is a rare genetic condition, also more commonly known as brittle bone disease. It is a condition that causes bones to break more easily, as well as affecting other parts of the body such as tendons and ligaments. The term Osteogenesis imperfecta means imperfect bone formation. It is estimated that 1 in 15,000 people in the UK are affected by this condition, although the milder type (such as mine) may be under-diagnosed.

Osteogenesis imperfecta is often present at birth, but milder forms of the condition may not be recognised until a child begins to walk. Brittle bone disease is present throughout a person’s lifetime as there is currently no cure. Treatment for osteogenesis imperfecta is largely aimed at managing fractures and encouraging mobility, independence and physical activity. Treatment may also include drugs aimed at reducing bone turnover and increasing bone density as well as Vitamin D supplements. I have had over 50 fractures but I have actually lost count. At the time of writing this, I have not had a fracture for over a year.

DIGANOSIS

I was diagnosed with osteogenesis imperfecta at the age of two, as this is where we lived at the time. I have type 1 (known as the mildest type), which is estimated to account for 50 percent of all cases. The characteristic features vary greatly from person to person even for people with the same type. Individuals with mild forms of the disease may be of normal height and have no obvious symptoms. The only way that you can clearly tell that I have this condition is that the whites of my eyes are blue.

After I was diagnosed, my dad was also diagnosed with the same condition at the age of 31. When my dad was a child, he was always getting his bones broken, but everyone just thought he was a young boy getting into mischief!

FRACTURES

My first known fracture happened when I was 20 months old, and somehow managed to fracture my leg from simply tripping over in the bathroom.

When I was two years and two months, I fell over in a shoe shop whilst my mum was trying to buy some shoes. An ambulance was called, I fractured the same leg but had a different fracture.

These are the earliest known fractures although there is the possibility that I may have been born with fractures. I have an extremely high pain threshold as I can break a bone and not present the same way as everybody else. Therefore, I may have had more fractures than estimated.

When I was four years old, I fractured my arm but nobody actually knew until it appeared on an X-ray four weeks later when I fractured the same arm in a different place. My parents had no idea as I hadn’t complained to anybody that it was painful!

DETERMINATION

I’ve always been as positive as I can even though I have a rare condition. I’ve always been determined and I’m always willing to prove others wrong. My family has always been absolutely amazing, which definitely helps.

Charlotte with great Scottish swim medal

When I was due to start school at the age of four, the local authority said that I should be placed in a special school just because they didn’t understand the condition. My family had to fight, which they did successfully for me to be placed in a mainstream primary school and by the end of Year 6, I was captain of the school’s netball team. I’m lucky in that I’ve played most sports including football, hockey and basketball.

I am most passionate about running. I absolutely love it as I found that it is something that I can easily do (apart from when it is icy!) My personal best for a half marathon is one hour, 59 minutes and 58 seconds, which is something I am very proud of. I’ve completed 14 half marathons (including the Great North Run five times) and four full marathons, including London, Paris and Yorkshire.

I’m 30 this year and I’m not quite sure what will happen with my condition in the future, but for now I will continue living life as best as I can. I’m proud to be employed as a Physiotherapy Associate Practitioner, based in Critical Care at The Newcastle Hospitals NHS Foundation Trust.

TO LEARN MORE ABOUT PEOPLE LIVING WITH RARE CONDITIONS, WATCH THE UK’S OFFICIAL RARE DISEASE DAY VIDEO. IF YOU WOULD LIKE SHARE YOUR OWN EXPERIENCES, PLEASE EMAIL [email protected].

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