Making the most of everyday

By Charlotte, Osteogenesis imperfecta type 1, United Kingdom, January 27, 2020


I was diagnosed with Osteogenesis Imperfecta at the age of 2. Osteogenesis Imperfecta, is a rare genetic disorder and also more commonly known as Brittle Bone Disease. 

The term Osteogenesis Imperfecta means imperfect bone formation. It is a disorder that causes bones to break easily, often from mild trauma or no apparent cause. There is currently no cure.

It is estimated that just 5,000 people in the UK are affected by this condition and worldwide may affect 7 in 100,000 people however the mild form may be under diagnosed. 

I have type 1 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. 

Osteogenesis Imperfecta can have many health implications. These include a wide range such as low bone density, brittle teeth, fragile skin and hearing loss. It can cause easy bruising and fatigue, vision problems and hypermobility depending on the type and severity​​​​

After I was diagnosed at the age of 2, 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. He was labelled as being accident prone. Although my Dad wasn’t diagnosed until after the age of 31, he says that if he had been labelled with a diagnosis, this would have prevented him, from having a successful career in the RAF.

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

On 21st 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.

On 17th August 1994 aged 2 years and 11 months, I was playing ambulances with my older brother, when I somehow managed to slip on a book on the dining room carpet. I fractured my right lower leg and spent 2 nights in hospital.

On 26th January 1995 aged 3 years and 5 months, I decided to stand up in my pushchair and fell onto a stone floor, and fractured my collar bone.

The worrying factor at this point is that discussions at the hospital were pointing towards possible child abuse. These are the earliest known fractures although there is the possibility that I may have been born with fracture

The only way that you can visually tell that I have this condition, is that the whites of my eyes are blue and that I bruise very easily. I've had around 50 fractures but I've lost count. I have an extremely high pain threshold as I can break a bone and not present the same way as everybody else. Therefore I am may have had more fractures than estimated. 

When I was 4 years old, I fractured my arm but nobody 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.

At the aged of 14, I was playing a game of netball at school. I jumped up to catch the ball, landed awkwardly and felt a painful click in my hip. I managed to somehow walk off the court and was taken to A+ E. I think my Mum was very confused as to how on earth I managed to stand up after falling, let alone walk. I still remember the doctor in A+E made me walk along the corridor and then saying that I couldn’t possibly have a fracture as I could walk on it. After continuing to play sport although with more difficulty, a fracture was found 6 weeks later!

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 for me to be placed in a mainstream primary school.

The support from my Family has been absolutely amazing, they always there to support myself especially at difficult times. They encourage myself to do whatever I want to go and do (although they drew the line at Ski-ing and Ice Skating) 

Primary school was initially frustrating as I was excluded from doing P.E. even though when I got home from school I would often be playing out, running around the garden and playing football with my brothers. 

I had to convince the teachers that I could join in as I absolutely loved sport. Eventually they agreed and by Year 6, I was made captain of the school netball team!

In secondary school, the teachers attitudes were brilliant.  I could join in with whatever activity or lesson I liked as long as I promised to always wear my shin pads. I joined in with everything playing sports such as Football, hockey and basketball.

Brittle Bone Disease has a large psychological impact as does any rare disease. 

I find it difficult at times as the condition is completely unknown to other people, unless they are close family, friends or doctors who have specialist knowledge. It can be worrying at times, not knowing or being able to plan when the next fracture could be or the severity of it.

I started out exercising because I found that it helps myself both physically and mentally to cope with living with a rare disease. I continued to play a variety of sports including Football but after breaking/dislocating my ankle I decided I needed to find a new more sensible sport!

I fell in love with running and absolutely love it. I’m currently missing it at the moment due to a fractured wrist but can’t wait to get back out!
I just love the feeling of getting outside, and running whilst listening to music or a podcast.
In total I’ve completed around 13 half Marathons and 4 full Marathons (including Yorkshire Marathon, London Marathon and Paris Marathon)

I’m proud to say that I've completed the Great North Run 5 times. My Half Marathon pb is 1 hour, 59 minutes and 58 seconds. Not bad for someone who has had around 50 fractures and was initially discouraged from doing Sport/P.E.

As with any rare disease, I am uncertain as to what the future will bring, but I'm hoping to closely follow any new research, development and treatments.

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