By Alessandra Tolaccia, OIFE Volunteer

I have been suffering from chronic pain for over 15 years now, and every time I have approached a new doctor looking for help, the answer has always been the same: pain in muscles/tendons has nothing to do with OI. But why doesn’t my pain go away with the common treatments for muscular pain? Why is the pain only worsening? These questions have been in my head for so long, and I could never get an answer.

The last time I have heard this “verdict” was at the beginning of February 2023. I remember that while leaving the hospital that day, I was literally in tears, because I could not accept that no-one could help me or should I say, believe me? Or at least make the effort of trying to give me an explanation that I could accept, and that would make sense to me.

For a few days I went on feeling very low, but then something clicked inside me. I took my iPad and started searching for medical articles and publications about “pain in adults with OI”. I finally found what I was looking for. A research article called “The prevalence of musculoskeletal pain and therapy needs in adults with Osteogenesis Imperfecta (OI) a cross-sectional analysis”. This study was giving me some of the answers that I have been looking for far too long. In the project from the UK, they found that 85% of the patients involved were suffering from musculoskeletal pain with no difference in pain between types of OI and age. 50% reported persistent pain for longer than 1 year. So, despite what I was told, I certainly wasn’t the only person with OI with a serious pain problem.

This was a very important starting point that led me to find out that in Europe there was an umbrella association called OIFE, that was organizing a conference called: “Balancing life with OI” – a topical meeting on the impact of pain in OI. I cannot express the mix of feelings that I had at the time, but I can tell you that on that exact day I booked my flight ticket to Stockholm and to the conference. And looking back at it, it has been one of the best decisions that I took in a long time about my health. Since then, for me there is a “BEFORE Stockholm” and an “AFTER Stockholm”.

This convention was one of a kind. It was the first time that so many studies on pain in adults, from literally all over the world, were presented to the OI community. Thanks to the findings that were shown, I now know, how many people are affected by this problem, and how much we all need to learn about it. Pain affects people’s lives in so many different ways that it becomes difficult to say which is the worse part of it. But certainly, it is fundamental to approach these issues one by one and to find a way to deal with them. And that is what research can do.

I came back home knowing that for now, there isn’t a therapy for my specific pain, but that there is a lot of interest in the scientific world to learn more about it and find solutions. Many studies are only at the beginning. There is also a new approach to this issue, in which the patient is more centric and our opinion matters. This is the time for us to be part of something important for the future. Pain is not something that we must accept passively, it is unfortunately something that we must live with. But it is also something we can learn how to fight. And knowledge is the first step towards this battle.

During those few days in Stockholm, I met some incredible people that inspired me to have a more active role as a patient. So now I am in the process of learning and motivating myself and I can say that, if in my “BEFORE Stockholm” version I used to see obstacles, in the new version of me, “AFTER Stockholm” I now see opportunities.

Last August I enrolled in the EUPATI Patient Expert Training Program. I am now learning a great deal about the role that patients can play if we have the right information and knowledge. I have also started the pre-training for the EURORDIS School On Scientific Innovation & Translational Research that will take place in Barcelona in June. Through this I have started to learn about genetics and how this field is becoming more affordable and precise and how it will have a key role for rare diseases. These courses are also giving me the opportunity to meet with different patients and association members of different rare diseases and exchange ideas and information.

So, in conclusion: pain is still here, and some days hurt worse than others. But now I am fighting back!

Kind greetings
Alessandra Tolaccia – proud to be “rare”.

You can watch the aftermovie from the Stockholm conference below. 

This article was first published in OIFE Magazine 1-2024.