Other rare bone conditions than OI – MO
Interview with Liana la Forgia, volunteer and a member of the scientific board of A.C.A.R. Aps, the Italian patient association for Multiple Osteochondromas (MO)
OIFE has for many years had a project called “A stronger BOND between us”. The goal behind the project is to further develop an informal network between different stakeholders working on OI and other rare bone conditions (RBDs). 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 are starting a column about other rare bone conditions, where we will present a new condition, volunteer or organization each time.
Who are you and what is your relation to a rare bone condition?
My name is Liana la Forgia, I am Italian and I live in England. I am a volunteer and a member of the scientific board of A.C.A.R. Aps, the Italian patient association for Multiple Osteochondromas (MO), Ollier disease and Maffucci syndrome. I am also an ERN BOND ePAG Advocate and a caregiver.
In a few words – tell us about MO and how it’s affecting lives?
Multiple Osteochondromas is a genetic bone disorder characterised by benign cartilage capped tumors growing on long tubular bones, flat bones and ribs. These tumors are called exostoses or osteochondromas. MO may result in limb discrepancy, short stature, abnormal development of bones, restricted joint movements, compressed nerves and blood vessels, pain and fatigue. MO is typically passed down from parent to child and it could also be the result of a spontaneous gene mutation. MO is characterised by the growth of osteochondromas which poses a risk of malignant transformation.
How rare is it?
MO is estimated to occur 1 in 50,000 people and is caused by a gene mutation. Surgery is currently the only form of treatment however, pain management may also help.
Which organizations are you involved in?
A.C.A.R. Aps stands for Associazione Conto Alla Rovescia, an acronym that acts as a countdown to finding a cure. A.C.A.R. Aps is the Italian patient association which supports patients and their families by providing guidance and information including listening to their needs, promotes and stimulates medical research to facilitate diagnosis and develop treatment aiming at improving the overall quality of care of patients. They also promote a collaboration of stakeholders and a multidisciplinary exchange between clinicians at an international level and raise the overall awareness also at political level of MO, Ollier Disease and Maffucci Syndrome.
Do you see any similarities or differences with OI?
To some extent, MO has several similarities with OI. For example, they are both genetic bone diseases, they both could also be characterised by limb discrepancy, short stature, mobility issues and chronic pain. Both patients with OI and patients with MO may have mixed emotions regarding their condition along with feelings of isolation. The sense of being considered “different”, as well as being burdened by fatigue, the potential impact of the condition on their social life, their work life, relationships, education and daily life overall, may all lead to poor self-esteem.
Anything that’s very different?
OI patients may often present bone fragility, a feature which differs from MO. Abnormal dentinogenesis, breathing problems and blue sclerae are not part of MO symptoms either.
What do you think of the Stockholm conference?
The Stockholm conference represented a great opportunity and an amazing experience overall. I am honoured to have been part of such a well-organised and significant event for OI and other bone disease communities. Many speakers presented their upcoming research which is often relevant to many other diseases, including rare bone diseases. Presentations were both inspirational and stimulating whilst being informative. The conference allowed me to learn a lot, I met many wonderful and interesting people, I had a chance to network but most importantly I boarded my plane back with a deeper understanding and a strong motivation to do more for the MO community as well as other disease communities I may come across in my role as a volunteer. Although the topic of the conference was “pain”, many other topics were touched and covered, all well-presented and engaging. The experience enriched me as a whole.
If there is one topic OIFE and the MO-community should work together on – what would it be?
The experience I had in Stockholm taught me that patients’ symptoms and experiences are not confined to one specific condition and that patients, caregivers and families have more in common with other disease communities than they are aware of. Joining forces, collaborating on common purposes and supporting each other is definitely the way forward. Together we may find answers and assist each other to face collective goals and issues, as well as identify ways to significantly help patients. I feel that the topic of “pain and fatigue” needs to be investigated further when considering these two conditions. I personally also feel that a better “quality of life” of patients and the “emotional impact of the condition on the inner self” may represent an opportunity to work alongside each other and collaborate together on common grounds. In particular, the experience of patient associations may prove useful for a “collaboration on designing natural history studies” for potential development of new therapies.