FSHD International Patient Advocacy Summit

December 12, 2019 By Bine Haase

 (June 18th, Marseille, France)

A European Patient Perspective

The conference was sponsored by the FSH Society and jointly organized with FSHD Europe. It was attended by 38 delegates from Brazil, China, France, Germany, Italy, Israel, Japan, the Netherlands, Spain, UK and the USA.  More than half of the delegates were patients and family members, some of whom are also doctors or researchers in FSHD, and the others were scientists or representatives of the FSH Society.

It was important for patients to contribute, so we got talking to each other early in the day.  Hearing about patient groups in the different countries was fascinating.  It had never occurred to me that in some countries genetic testing was either unavailable or so expensive that few people could afford it.

We heard the latest research from Jeff Statland, Doris Leung and Scott Harper and looked at how we could develop strategies for patient engagement, working with scientists/industry, and fund-raising.  The ideas we generated will be taken forward to inform future developments to support the whole FSHD community.  This could include a global structure to co-ordinate FSHD patient groups, with FSHD Europe representing European organisations.

©Jean Marie

We also discussed the concept of global patient registries which caused some confusion, maybe due to Britain and America using a common language to say different things.   Several European countries have Patient Registries which contain lots of sensitive data about individuals, and people sign up to the registries on the understanding that they are secure and protected by GDPR.  Taken together these registries provide a good picture of how many people there are with FSHD, and thus make the case to researchers and industry of the demand for treatment.

It became clear that a global mailing list was being suggested, so that people around the world could find out about drug trials and how to take part in them.  Even to provide and share mailing information for European patients would have to comply with GDPR, so lots of hurdles to overcome.  From my own perspective, I feel that the UK Patient Registry provides me with all the information I need to participate in trials so wouldn’t feel the need to receive the information from another source, but some people may want to join this global patient mailing list.

What was most exciting about this event was the opportunity to meet people from all over the world with FSHD, to see that although their symptoms might be similar the health care systems and cultural attitudes to disability made such a difference to how they are able to get on with their lives.  Building an international FSHD patient community will mean understanding and recognising these differences, developing local approaches to patient engagement rather than assuming the same approach will work everywhere.

Sheila Hawkins

Trustee of MDUK and FSHD Europe Board Member