Other Rare Bone Diseases than OI: FOP
Because some of the other rare bone conditions are very rare or very little known, OIFE can play a role in creating awareness and spreading information about these conditions, which very often have a lot of commonalities with OI. This is why we have started a column about other rare bone conditions, where we will present a new condition, volunteer or organization each time. This time we focus on the very rare Fibrodysplasia Ossificans Progressiva (FOP).
In the most recent magazine, you can read an interview with Marie Fahlberg, who is the President of the Swedish FOP association Marie attended OIFE’s “Balancing Life with OI” conference in Stockholm, and she says that she learned a lot about similarities between rare bone diseases. For instance, getting to understand the holistic perspective of the rare bone diseases and not just focus too much on the bones.
What is your relation to a rare bone condition?
My name is Marie H. Fahlberg and I am from Sweden. My youngest son Hugo was born with Fibrodysplasia Ossificans Progressiva (FOP) in 1998 and diagnosed in 2001.
In a few words – tell us about FOP and how it’s affecting lives?
FOP transforms muscles, tendons and ligaments into bone. It creates an extra skeleton and bridges of bones lock the joints. The most common sign of FOP at birth is a malformation of the big toes, but there are variations too without the FOP-toes. A person with FOP needs to be careful in many ways. They need to avoid intramedullary injections, biopsies and surgeries. These actions and even small traumas and viruses can trigger FOP to start to form new bones. The transformation is often painful with soft tissue swellings. Sometimes the swellings are small lumps, other times they are large and can cover a whole back. The swellings and bone formations can overlap and continue for months and years before it calms down for a while, and you never know for how long or when it will start again. It is different from person to person.
As a parent to a small child, it’s a lot about creating a safe environment, to have a person look after the child all time, and informing about FOP to avoid unnecessary accidents, swellings and bone formations. But FOP is unpredictable; it can “wake up” and start a flare up one day without any warning. Many of the adults are very stiff. Some still have movements in the hips and are able to walk. Some are stiff in a seated or standing position and in need of a wheelchair or Permobil (powerchair). All of them need an assisting person to help manage their daily life on many levels. But it is important to stress that FOP is only physical; it does not affect the brain. And the International FOP community is amazing in many ways. It is like an extra family.
How rare is FOP?
Approximately 1 in 1 million.
Which organizations are you involved in?
I am the President of the Swedish FOP association, Svenska FOP-föreningen that I founded in 2004. Today we accept members from all Nordic and Baltic countries. We are one of the members of Rare diseases Sweden since 2008. I am in the steering committee of the International FOP Association’s (IFOPA) Presidents Council (IPC) where I have been a representative since the start of IPC in 2007. And I am involved in different multi stakeholder constellations for FOP on a European and Global level.
Is something similar between OI and FOP?
In a few words, the pain, and the not knowing what you wake up to. To handle with extra care in every situation. But even if you do that, you are not safe and secured from pain or more limitations. And there is also a complex balance between “safety and fun” in life.
Anything that’s very different?
FOP creates extra bone. These are perfectly healthy bones, but in the wrong place. People with OI have brittle bones.
What do you think of the Stockholm conference?
The “Balancing Life with OI”-conference was one of the best conferences I have attended (and that says a lot). I did not know what to expect from it before it started. It was so many short talks, jam packed, and first I felt “why so many talks”. But in the end, it all made perfect sense. To really get the holistic perspective of the rare bone diseases, to not focus so much on the bones, to focus more on what we can actually do to improve our lives with therapies and functional medicine. I learned so much about similarities between rare bone disease which I had no clue about before this conference.
If you could suggest a topic OIFE and the FOP-community could work together on – what would it be?
It is hard to pick one. I see so many topics, which is why I give you three:
1. To develop relevant questions in clinical trials to be able to measure the outcome of clinical trials from a rare bone perspective instead of a healthy perspective.
2. How can we handle the different kinds of pain we have in common with safe functional medicine to limit the intake of painkillers that come with bad side effects? And when do we need stronger medications and what to think about?
3. Nutrition and rare bone diseases. This has become my profession on the journey with FOP, to improve mental and physical health and make sure the body gets the best possible internal environment to better handle pain and medications and to limit the risk of unnecessary side effects from medications that can come from poor or unhealthy diets.