Ingunn Westerheim shares her experiences of life with a rare bone disorder

Could you describe the events leading up to your diagnosis?

When I was born, both my femurs were fractured. But, I had normal height and weight, so the doctors struggled to find out what was going on. I did not have blue sclera (the white part of the eyeball) either, which is important diagnostic criteria for OI. But, I didn’t stop crying so the doctors realised something was wrong. When they found out both femurs were fractured they sent me to a specialised orthopaedic hospital. After a few days, I got the diagnosis of osteogenesis imperfecta (OI).

What was growing up with the condition like?

During my first four years I fractured quite a lot. It was mostly femur fractures, but I also had some tibia (lower leg bones) and rib fractures. In spite of this, I was never overprotected by my parents. They let me take part in normal activities like playing in the snow, going to the beach, etc. I started normal kindergarten at the age of four, where I had a few adaptations to allow me to participate, all of which I hated, because I wanted to be like the other kids.

I don’t know my genetic type of OI, because I have never been tested. However, it’s probably type III OI – a severe kind. I could walk a few steps without aids as a small child and from the age of five to ten years I could still walk short distances with crutches.

I got my first wheelchair when I was four, but it weighed about 20kg and was made for an adult. So getting my first lightweight wheelchair at the age of ten was kind of a revolution. From the age of ten to 11 I went from a tiny school to a much bigger one, which substantially increased the risk of falling. Together with the development of more curvatures of my legs and spine, this was the reason I became a full time wheelchair user.

Do you know how many bones you have broken or fractured in total?Probably around 50, but it’s just a wild guess. Many of my fractures have probably gone undetected. I had a lot of femur fractures before I was ten years old. Then they more or less stopped, but I had a lot of back pain in my teens, which might have been caused by vertebrae fractures. As an adult I’ve had some rib fractures and some other fractures in different parts of the body because of falls or accidents.

Have you undergone any surgery because of the condition?

On my 5th birthday both my femurs were straightened and rodded, and this was before telescopic rodding was available. As a result, I had several consecutive rodding surgeries over the years as a child.

When I was 16, the femur rod broke from wear and tear, causing a bad and very painful fracture. The experienced OI surgeon wanted to put me in a plaster cast for pain relief, but as a child I had been put in plaster casts many times without proper pain management and I had traumatic memories from this, so I refused. He continued to nag, but I persisted and eventually he caved in. This was the first time I felt empowered in a healthcare setting. Before that, I felt that all decisions were made over my head and that nobody cared what I as a child with OI felt.

What do you find most difficult about living with OI?

After the age of 30-35 it is definitely dealing with the chronic pain – both bone and muscular. I am also starting to think that some of my pain is neurological, so it’s complex to find good pain management. Being in my 40s I also have substantially less energy than I had ten years ago. Some call this fatigue, but I’m actually wondering if much of it is due to untreated pain, which can make you incredibly tired.

How does the disorder affect your day-to-day life?

Because of the chronic pain and less energy, I’m not able to work full time anymore as I did in the beginning. Besides that, I guess it’s the obstacles and discrimination you face as a wheelchair user and being perceived as disabled, that has mostly affected my life negatively. But because of my OI I have also become involved in organisational work and this is incredibly rewarding. I’ve served as the president of Osteogenesis Imperfecta Federation Europe (OIFE) for four and a half years now, and through this work I have met amazing people all over the world – including professionals and people with OI. This includes the guy I live with, who I met at an OI-meeting five years ago.

Have you ever experienced any social stigma due to the disorder?

Yes, most definitely. I think any person who uses a wheelchair and who looks different will face discrimination and social stigma no matter what personality you have. I have tried to ignore it as much as possible and just focus on positive aspects. Internet dating as a young disabled person can be a nightmare, but I also found school and university years challenging. It was almost a relief when I could started working as a legal advisor, where people quickly saw me for my competence and not only the short girl in the wheelchair.

Are you happy with the care that you receive?

Well, sort of. I wish that there was some clinic or centre for rare bone diseases, where you could have both treatment and regular follow-up. My GP refers me to specialised healthcare when needed, but they usually don’t know anything about OI. Better treatment for adults with OI is a gap that needs to be addressed.

Do you find the condition has any mental affects as well as the physical effects?

Statistically people with OI are very good at coping with our rather complex disease and disability. Perhaps we have psychological skills we have learned from an early age. But, one thing is certain: We are not invincible and we are certainly not unbreakable – even if we sometimes like to project an image of it! Fortunately, my problems have been more of the physical kind.

What information or advice would you give to someone else living with OI?

Join an OI organisation. Having grown up in an OI organisation, I feel that the community is really remarkable in providing peer support and friendships for life. OI meetings are a place where people can feel at ease, because they don’t have to explain that much to the people there. They just know, because they have been there themselves. It’s also a good place for kids to meet role models. And if you don’t have any relationship to OI – join as a volunteer. We are cool people to hang out with!

What are your hopes and fears for the future?

As a woman very close to hitting menopause, I fear that my bones will soon start to get weaker and that I will get age-related bone fragility on top of my OI. Especially since my mother and my grandfather and all his sisters and brothers had osteoporosis.

Do you think the quality of information available publicly about osteogenesis imperfecta is adequate?

There is certainly a lot of it out there. The biggest problem is perhaps that there is so much wrong and confusing information available, especially in Facebook-groups and social media in general. Organisations and clinicians have an important job in helping people orientate in the jungle to identify the difference between what is wrong information and what is trustworthy information about OI.