The UILDM FSHD Group interviewed Fabiola Bertinotti, volunteer and international representative of the association at the most important organizations for facio-scapulo-humeral dystrophy.

Fabiola, you have been working as a FSHD patient advocate in international settings for over 15 years. How do you describe the reality of FSHD patients and UILDM in environments such as the World FSHD Alliance?

 (Fabiola smiles) I could write a book to answer your question. This time let me give you just a bit of context to help you better understand how we as UILDM-FSHD group bring our contribution. I’d like to speak about the role UILDM plays within World FSHD Alliance which is an organization including twenty different FSHD patient associations around the world. Born in 2019, the Alliance has received immediate attention by UILDM who supported it by directly engaging in its steering committee since January 2020. For me, it’s an honor and also a major responsibility to represent such a complex and evolved reality as UILDM on the international front as far FSHD patients are concerned. When asked to give a description of who UILDM is and what its important ramifications are (66 local chapters throughout the country, 7 NeMo medical centers, Telethon Foundation) my stakeholders would always be very impressed as the variety of organisms UILDM has generated over its 61 years of lifespan is really outstanding. Being every day alongside of people with FSHD or other dystrophies in such a serious, inclusive and attentive way as UILDM does through its 66 sections, is an impressive fact. Moreover, being present on the territory with 7 highly specialized NeMo hospital centers integrated into the national health system is even a unique case in the world! As UILDM we have so much to give in terms of know-how but, of course, also so much to learn from both the Alliance overall and each individual FSHD association around the world. Notably, some of them find themselves battling every day in order to achieve, in some countries, minimum patient rights such as a diagnosis at a reasonable price (whereas free of charge in Italy).

 

What are the most urgent battles on which UILDM is committed today on the FSHD side?

Generally speaking, there is much still to do for our FSHD patients in every country, including Italy. As UILDM FSHD group, we have been doing important steps in the communication and research field (visit EPITHE4FSHD website) and we will continue to engage into the most urgent goals to defeat FSHD and improve people’s life quality, such as paving the way to trials readiness, facilitate communication and awareness on the disease within the health professionals environment, and last but not least, enhance collaboration between patient’s advocacy groups, health professionals, national health system, scientists and industry, both nationally and worldwide. Most importantly, through UILDM and the Alliance, we work to achieve concrete results for the patients by advocating for clinical trials and the achievement of a cure in the shortest possible time. This said, we wish to invite other FSHD patients to join and be part of a positive enterprise!  Continue to read for more links/info.  

 

Over your long experience in representing FSHD patients, in your opinion, how much progress has been made in recent years and how has UILDM has contributed?

I would start from the present: certainly, clinical trials like FULCRUM’s today represent a promising progress for the patients, and we know that many more trials will be coming in the future. My experience as patient advocate starts from a completely different situation, and I’d like to talk about my story alongside with UILDM because I find it encouraging and positive for everybody. My son was diagnosed with FSHD1 in June 2005 and I have dedicated myself to the cause of FSHD patients since 2007. UILDM has always been by my side, caring for FSHD patients and anyone with neuromuscular disease in general. Maximum confidence on the part of Alberto Fontana in a first time, and Marco Rasconi (National President, editor's note) together with Stefania Pedroni (National Vice President, editor's note) in the latest years. UILDM has changed our lives, helping us to come out of a state of disorientation at the time of my son's diagnosis to lead me and my family to a reassuring state of warm welcome and support. In short, we found ourselves in a real family experiencing firsthand the UILDM philosophy according to which there is room for everyone, and no one is ever excluded! In 2010 UILDM helped me to found FSHD Europe, in 2018 UILDM supported me in the transition to TREAT-NMD, the world organization on neuromuscular diseases where I wanted to start talking seriously about FSHD, and again, with confidence and foresight, in 2020, UILDM joined the steering committee of the World FSHD Alliance, a body of strategic importance for patients: here, in collaboration with health professionals and scientists from all over the world, the next decisive steps towards a cure will be played. Last but not least: an international collaboration started at the end of 2021 which sees UILDM working together with scientific coordinator Dr. Davide Gabellini on a specific global research project for FSHD: an absolute first! I invite readers to learn more about "what's hot" by visiting EPITHE4FSHD a totally new website dedicated to FSHD and coordinated by UILDM! Our wish? We want all this good news of resourcefulness and collaboration to reach and encourage FSHD patients all over the world, and especially Italian patients, to whom the FSHD-UILDM group led by Maria Giovanna Tortora is addressed.

 

 

To stay up to date on FSHD Society activities, you can fill out this form and join the community!

The form is also accessible from the QR Code below.