EVENTS

Report from ‘See, Hear, Smile!’

The title and graphic identity of the Latvia meeting Jean Moitry and I attended in Riga is a reference to the Chinese tale of the three monkeys. One of them doesn’t see, the second doesn’t hear and the third hides his mouth. This is an optimistic message because the meaning of the parable is that if you choose not to listen to evil, not to look at it, nor to repeat negative ideas to others, you are a wise-man/wise-woman.

More literally, when one is a person with OI, one may have in addition to orthopedic problems, issues with one’s sight, or one’s hearing, or with jaw deformities or one’s dental system that may cause pain, teeth fragility all the way to affecting one’s self-esteem especially during teenage years (smile). Behind this humorous and welcoming entry, the rich program Ingunn and OIFE had devised contained arduous scientific material not always easy to apprehend for a neophyte like me, when it comes to all the background knowledge about our pathology. Let’s try to summarize and indicate a few tracks.

Introductory words the organizers were followed by a general presentation of OI by Dr. Antonella Forlino, explaining different ways to classify OI, the Sillence classification and the classification with the 19 different genetic types. Research pertaining to the mutation classification could lead to more specific treatments and follow up in the future.

Day one was first devoted to eye pathologies which can occur due to thinner sclera and cornea and then to dental treatments and jaw function problems pertaining to OI patients suffering in these areas. We learnt that serious vision problems such as glaucoma or cataract seem to affect less than 5% of OI people of any type, and are therefore reported as less prevalent in OI patients than in the average population. Dr Janna Waltimo Siren and Dr. Suken Shah then approached skull base deformities and basilar-invagination which may appear in as much as 25% of the OI population (30% of types III and IV). Concerning dentinogenesis imperfecta (=DI), according to an Eastman Institute study, among 50 patients of all types of pathologies suffering from DI 28% had this condition due to OI. DI mostly affects OI types III and IV, much less type I. In Northern Europe, several studies have been devoted to its various forms notably within the TAKO and the Eastman institutes networks. Dr. Agnes Bloch-Zupan, a pediatric dentist and biologist at the IGBMC Centre of reference on mouth and dental disorders in Strasbourg (France) then spoke of her research within the European program Interreg V RARENET on rare dental diseases, among which OI had been included. That same day we learnt from Dr. Manuel Joaquin de Nova Garcia that the effects of anti-resorptive treatments such as bisphosphonates on the evolution of dentinogenesis have been studied: they seem to be causing dental malocclusions in some patients. Studies about the consequences of such treatments in relation to hearing loss apparently have not yet been made.

On the second day, we were given an overview of the various forms of hearing deficiencies in OI. It is commonly said that about 50% of us will suffer from hearing loss. Within the framework of a Danish study, 60% of examined ears in O.I. patients were affected. A lot was learned about the prevalence of deafness due to transmission failure (middle ear) in comparison with hearing impairment caused by perception defects (i.e. inner ear, cochlea affections). Optimal ways of detecting, treating and following up the various types of deafness in OI, were detailed by audiologist Freya Swinnen.

I noted that there appear to be less studies produced nowadays about “deafness and OI” than in the 1970 to 2000 period. A few existing recent studies however reveal that the most severe hearing losses associated with OI originate not specifically in middle ear — of which the small bones deformations and possible surgical treatments have been explored extensively, as Dr. Pedersen reminded us —, but rather in the inner-ear or in a combination of both conduction and perception problems (i.e. middle and inner-ear deterioration) adding up with age. As far as we know, “fortunately”, very severe malfunctions and this combination factor occur in less than 5% of OI patients.

The causes of mutations and conditions inducing malfunction in the cochlea in some OI patients whilst not in others have not yet been identified. What we know is that, like the middle-ear bones, a fragile cochlea is likely to suffer from micro-fractures and chaotic bone remodeling. As the temporal bone is also prone to demineralization with age, perceptory cells finding themselves in a hostile environment, begin to atrophy. In the case of severe hearing loss — affecting patient’s capacity to understand spoken conversations even while wearing external hearing aids —, one may have recourse to cochlear implant (=CI) provided one’s cochlea hasn’t been obstructed. Implantation consists in the surgical insertion of a silicone electrode carrier in the inner-ear, coupled with a microprocessor implanted under the skin of the head (see Illustration).

As surgeon Gunta Sumeraga, Freya and myself emphasized, it is absolutely indispensable to be examined by a surgeon who already knows OI or similar bone pathologies before making the decision to get an implant. With a cochlea wall as thin as ours, risks of cochlear perforation and meningitis are greater, as well as risks that the facial nerve gets stimulated (in addition to the auditory nerve aimed at) when the electrical processor of the implant is turned on, causing facial paralysis or jerks.

We still have some way to go before a solid body of work exists to improve the quality of life of OI people affected by deafness. Although this may be considered a secondary disability because it appears, in its stronger expression, after the age of 40, deafness should be treated as early as possible, when it is still mild. Regular (possibly annual) audiograms should be performed starting in early childhood and throughout adulthood. It is important also to be prescribed and to wear hearing aids as soon as medium range deafness is diagnosed, as well as to get a professional psychological follow up: these are key factors for avoiding the serious psycho-social damage untreated deafness may cause.

Each section of the Riga program began with patient testimonies that had been carefully and sensitively selected by members of the OIFE board, who read them aloud to us. The conference’s audience of about 80 people consisted primarily of medical professionals and secondly of patients and OI family members of all ages, converging from all over Europe and Russia. Such diversity among the attendees surprised Canadian Pr. Jean-Marc Retrouvey who made a rather arduous presentation on 3D modelizations of cranio-facial characteristics in OI. He expected to have a mostly professional audience! However this is very much the specificity of OIFE: mixing audiences to allow active patients to document themselves whilst providing an opportunity for professionals to meet the people who make their practice meaningful, and not just remain among themselves.

The Riga meetings were successful at that, taking place in a beautiful setting and in a very friendly atmosphere. Thumbs up and a BIG thank you to Ingunn, Taco, Ute, Anna, Dace and her husband for their warm welcome. Many thanks also to Zita for her skillful simultaneous transcription that allowed deaf people such as me to follow the conferences.

Access the full program of the conference here.

A selection of power-point presentations of the individual talks and the abstract book can be found here.

Summarized by Diane Maroger, Association de l’Ostéogenèse Imparfaite (AOI), France

 

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OIFE

Seasonal Greetings from OIFE

Dear friends & contacts of OIFE.

It’s Christmas Eve in Switzerland and I’m taking a moment before family dinner to look back on the year that has passed. To be honest it has been 12 months of ups and downs in the OIFE. To start with the saddest part, it has been a challenging and emotional time after the sudden passing of OIFE’s vice president Ida Mannistö from Finland in October. Ida had not been part of the Executive Committee (EC) of OIFE for more than a year, but she was a natural member of the team. We truly appreciate the time we got to work together. We will keep Ida in our thoughts in our future work for OIFE and she will be deeply missed…

Now to the more positive aspects. I think it’s fair to say that 2019 was the year of the many meetings. Winter and spring 2019 was a busy time preparing OIFE’s topical meeting See, Hear, Smile! that took place in Riga, Latvia from June 14-15th 2019. It was four years since our last topical meeting in Oslo, and every time we tend to forget how much work it involves to gather more than 80 participants from 22 countries. But thanks to our fantastic programme committee, the local organizers and our supporters Alexion, Mereo Biopharma, Cast Print and the OI Foundation we succeeded in creating an enjoyable and memorable event where eyes, ears and teeth and craniofacial issues were in focus.

See, Hear, Smile! brought excellent talks, great discussions and good opportunities for networking in a relaxed atmosphere. A big thank you to the lectures who came to Riga and contributed with their knowledge, with little or no compensation. On the following pages you can find material and photos from the event:

International networking at ICCBH

After the topical meeting we held our annual general meeting (AGM), where the Executive Committee of OIFE accounted for OIFE’s activities in the past year. Future plans and policies were discussed and members exhanged news and ideas. Dr. Eva Åstrøm from Sweden gave an update on ERN BOND and the company Mereo Biopharma gave us a status on the Asteroid study and presented opportunities and challenges regarding real world evidence and the need for registries. Click here to see photos from the AGM.

Shortly after Riga, Inger-Margrethe from NFOI and I went on to Salzburg for the ICCBH-conference. This year mostly to network with central professionals and people from the rare bone community. OIFE was also one of the central parties behind the establishment of the European Rare Bone Forum, which has taken a lot of time and energy in 2019.

In August we held our annual meeting of the Executive Committee in Oslo. We tried to do a low cost (or cosy) version through meeting in our private apartment. Since Dace was still breastfeeding, she brought her whole family. And even if it was slightly chaotic at times with computers, task lists, nappies and home made meals – we had a great time together and a fairly productive meeting.

OIFE Youth Event – chaos put into system (or a bus)

In September I had the pleasure to visit the annual family conference of the Brittle Bone Society, where I made new friendships and got a lot of useful information. But this is not the only conference or event where OIFE has been represented this year. Different representatives from OIFE have attended countless meetings in EURORDIS, ERN BOND, the European Medicinces Agency, in various research projects and much more. We’ve also had several meetings with the company Mereo Biopharma, where we have provided advice from the patient organization perspective. I’d like to take the opportunity to thank all the volunteers who represented us in the countless meetings and I send a big thank you to all our contacts and collaborators, for wanting to work with us in such a constructive way.

In October it was time for the highlight of the year – namely OIFE Youth Event. This year it took place in Bilbao, Spain. And as normal it was a success with a lot of tired and euphoric people going home with severe sleep deprivation and new friendships for life.

The last two months of the year had Quality of Life in focus. Many people from the OIFE and OI-community in general attended the Quality of Life 4 OI-conference from November 22nd – 25th in Amsterdam. Personally I had the honor to give one of the opening talks about the changing role of patients and OIFE hosted the deep dive session 5 on patient empowerment together with OIF, BBS and the other organizations.

Many people from OIFE contributed in various ways even if the biggest workload was definitely on Care4BrittleBones. We’d like to send a special thanks to Dagmar and her team for daring to take the leap and host such an inclusive conference that had never been done on such a scale before.

With the after-film from the biggest event in 2019, we wish you all a joyful, relaxing holiday season and a Happy New Year with good quality of life!

Kind greetings from Ingunn – OIFE president

 

 

 

 

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Participants of topical meeting See, Hear, Smile!CONFERENCES

Abstracts See, Hear, Smile!

A great topical meeting has come to an end. More than 82 people from 22 countries met in Riga, Latvia from June 14th – 15th to discuss and learn about eyes, ears and teeth of people with OI. The event had a lot of positive feedback already, and we feel we succeeded in creating an arena where newer research, treatment methods related to eyes, ears and teeth of people with OI could be presented. The abstracts can be accessed here.

Our hope was to create informal networks between professionals working on these topics and that it could inspire new projects and ideas.

Thank you to all invited speakers, presenters, volunteers and participants! You made sure it was an event to remember. For more photos and impressions from #SeeHearSmile – please visit our Facebook page.

See, Hear, Smile had more than 80 participants from 22 countries: Researchers, clinicians, patient representatives and other people interested in eyes, ears and teeth of people with OI.
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EVENTS

See, Hear, Smile!

2 Weeks left until Early Bird Deadline!

Are you a professional who’s interested in eyes, ears and teeth of people with OI? Or basilar invagination (BI)? Do you yourself have issues related to this? Then we invite you to take part in our seminar See, Hear, Smile! from June 14th – 15th in Riga, Latvia. Everyone interested in the topics is welcome to attend.

Target group:
– Dentists, orthodontists and other professionals working with teeth & jaws
– Clinicians & researchers with an interest in eyes, ears or basilar invagination (BI) in OI
– Clinicians & researchers with an interest in OI in general
– OI-community (people with OI, family members, staff and volunteers)
– Professionals & people connected to other rare bone diseases

More information can be found here:
https://oife.org/seehearsmile/

Please help us spread information about the event to professionals you know who are working with the relevant topics, or others you think might be interested!

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