Lily’s Story

Q: What kind of rare disease do you have?

A: Osteogenesis Imperfecta (OI), also known as ‘Brittle Bone Disease’ or ‘Glass Bone Disease’. It resulted from a genetic mutation that affects the production and quality of collagen in the body. OI is hallmarked by bones that fracture easily, often without any trauma or warning. However, the name is a little misleading as collagen is throughout the entire body, so many other parts of the body are affected such as hearing, tendons, ligaments, lungs, muscles, heart, skin, eyes, teeth and the vascular system.

Q: How does it impact your day-to-day life?

A: OI is a very unpredictable condition. Fractures to bones and dislocations happen very spontaneously. For example, twice when I’ve been to the movies, my foot has broken whilst I’ve been sitting on the seat. My hearing loss in my right ear literally happened overnight. I’ve also had a spontaneous hip dislocation without any impact or trauma. At other times, very ‘normal’ movements have resulted in severe fractures. When I sneeze or cough, I have to check that my ribs aren’t broken (my record is four broken ribs at once). I recently fractured my finger when I opened the automatic train door. Essentially, it’s like having injuries from a car accident, without ever having been in an accident. The unpredictability has meant that I live day-to-day very much in the moment, but always knowing that my health and mobility can change very quickly. I carry a ‘break kit’ when I travel, walking aids in my work bag, and have an emergency medication kit on me at all times. Sudden hearing loss has been a very big adjustment to my day-to-day life. I am reliant on hearing aids. The hearing loss has led to a lot of social isolation, loss of confidence, and fatigue. All of which I have to work at continuously. Simply ordering a coffee has become a difficult task. Due to the fragility of my bones and body, I find I get very stressed in crowded situations or on public transport, as someone bumping into me can result in significant fractures. Recently, I have been training my dog to be an assistance dog. He creates a ‘safety bubble’ around me when we go for walks, and that helps me a lot. I feel much more relaxed and safe when my dog is with me. OI has meant that living ‘carefree’, traveling light, and being spontaneous are all compromised. Fatigue, pain, and muscle weakness is a big stressor. I am unable to work full time. Three days of work requires four days of rest and recovery, which has severely impacted my quality of life and relationships. I have significantly less energy for social activities, hobbies, and adventures, which I feel very sad about. I spend significant time each day doing stretching activities and muscle strength exercises in order to maintain basic mobility such as walking and sitting, for day-to-day life. OI has made me appreciate the value of having energy, resilience, and endurance, and of making the most of ‘good days’.

Q: How many other people have this disease?

A: Roughly four to five people per 100,000 have OI. There are five types of OI with many different sub-types. As for my type, they’ve not been able to clarify which one it is, but the last specialist I saw said I was a rare type within OI itself. They are still discovering different sub-types. One lady in Germany is the only one of her type that has been discovered so far.

Q: When did you find out you had it?

A: I was diagnosed later in life at the age of 40, despite a long history of unusual symptoms such as sudden hearing loss, blue sclera, dentinogenesis imperfecta, unexplained fractures and dislocations, debilitating fatigue, and muscle weakness. I believe that the rarity of the disease contributed to the delay of being diagnosed due to the lack of awareness about it by medical specialists. I actually discovered the diagnosis myself after typing in the symptoms into Google. I then had a follow-up with the Melbourne Genetics Clinic who did a thorough assessment and examination and confirmed the diagnosis.

Q: How did you feel when you found out?

A: Because I’d been living with bizarre symptoms my whole life, I was very relieved to finally have a name and an understanding of what was occurring with my body and health. I also finally felt validated that it wasn’t ‘all in my head’. On the flipside, I’ve had to accept that information and understanding of the condition is very limited, and to trust my own experience of what elements help or hinder my wellbeing. Knowing more about the diagnosis has also helped me approach life more realistically. I now understand that it’s a lifelong condition, and that with having OI, I need to pace myself, to pay attention to symptoms, and to adjust my work and personal life accordingly. I now have different expectations of myself since the diagnosis, and can make better choices to lesson the negative impact of the condition on my wellbeing.

Q: Have you connected with others who also have the same rare disease/or any rare disease?

A: I have been able to connect with others who have Osteogenesis Imperfecta through specific OI Facebook groups. We are a very small global group, however, I have found it wonderful to connect to others in this way. We post to the group to gain understanding from others’ experiences, for tips on how to manage the condition, and for general support. I find the OI community to have a wonderful inner strength about them, and a great sense of humour which no doubt helps us to cope with the challenges we each face daily. Connecting with the OI community has helped me feel less alone and isolated with the condition.

Q: Do you find there is enough support out there for you to manage your rare disease?

A: In terms of finding enough support to manage OI, it’s been very difficult. From the medical profession, there is extremely limited experience of working with the condition in adults. So even when I see a ‘hearing’ specialist for example, whilst they naturally work with many patients with hearing issues, their ability to understand the hearing loss in the context of OI is poor. In my experience, this is across the board in seeking support for issues related to OI. It’s understandable given that it would be unlikely that each medical practitioner would have worked with a patient with OI before. Nevertheless, it is extremely frustrating and I often hit ‘dead ends’ in assessment, treatment and care.

Q: What else do you think could, or should be done to raise awareness about rare diseases?

A: I think it could be helpful for more education and awareness for medical personnel, although I can fully appreciate they already deal with so much! Perhaps a rare disease phone line for medical persons, or a task group could be helpful. I was also thinking, to increase awareness, it would be really good to have people with rare diseases to present to GP’s (at a conference, meeting, or perhaps on YouTube) since GP’s are usually the first point of call. It would keep rare diseases at the front of their minds when they see other people who ‘don’t fit the box’.