Charlotte’s story

Charlotte loves the outdoors and being active by running and walking, which she does even whilst living with Osteogenesis Imperfecta, more commonly known as Brittle Bone Disease. This is her story of how it doesn’t stop her doing the things she loves.

Osteogenesis Imperfecta

I live with Osteogenesis Imperfecta which is a rare genetic disorder, also more commonly known as Brittle Bone Disease. It is a disorder 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. 

Evidence of Osteogenesis Imperfecta is often present at birth. Milder forms of the condition may not be recognised until a child begins to walk. Brittle bones 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 recently had a fall whilst walking, injured my wrist and I’m awaiting a fracture clinic appointment.

My diagnosis

I was diagnosed with Osteogenesis Imperfecta at the age of 2 at the Queen’s Medical Centre in Nottingham, 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 condition 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 a 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 breaking bones, but everyone just thought he was a young boy getting into mischief!

My first known fracture was when I was 20 months old, when I somehow managed to fracture my leg from tripping over in the bathroom. On 21 October 1994, aged 2 years and 2 months I fell over in a shoe shop whilst my Mum was trying to buy some shoes, and 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 and can break a bone without showing much, if any, emotion. Therefore, I may have had more fractures than estimated, as they sometimes go unnoticed. 

When I was 4 years old, I fractured my arm but nobody actually knew until it appeared on an x-ray 4 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!  

Living with my condition

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.

When I was due to start school at the age of 4, 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) to get me into a mainstream primary school and by the end of Year 6, I was Captain of the School Netball team. I graduated with a degree in Sports Development with Coaching from Northumbria University.

I love being outside including running, walking and volunteering at parkrun. I find that being as active as possible helps me to manage my condition (apart from when it is icy!). My personal best for a half marathon is 1 hour, 59 minutes and 58 seconds which is something I am very proud of. I’ve completed 15 half marathons (including the Great North Run 7 times) and 4 full Marathons including London, Paris and Yorkshire.

I’ve worked in the NHS for 9 years now and I’m proud to be a Registered Nursing Degree Apprentice in Mental Health, studying BSc Mental Health Nursing at the University of Sunderland. I’m 33 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.