Symposium of the Italian Clinical Group FSHD, Pisa 2023 organized by the Italian Myology Association: “The story of Jaya Motta”

1.What drove you to share your story at this congress?

 As an FSHD patient and a member of UILDM – Unione Italiana Lotta alla Distrofia Muscolare, I am always quite excited to participate in medical-scientific conferences (I also participated with great interest in the FSHD International Research Congress organized by the FSHD Society last June in Milan). First of all, my aim is to get a fresh update on the latest news regarding the development of scientific research currently underway to find a solution to facio-scapula-humeral dystrophy.

Furthermore, from a personal point of view, if I can lend a hand to the entire team of scientists, doctors, patients, and so on, by bringing my experience and testimony, then I feel very happy to make a contribution in my own little way.

 

2.Why do you think it is important for patients to be interested in research?

I think this is really crucial for many reasons. Firstly, it opens up to the patients the opportunity to get to know the new and fascinating world research, and, above all, to learn how the various areas of scientific research focused on our pathology are evolving. The idea I wish to suggest all patients is that the knowledge of these aspects can generate greater strength/determination in dealing with our pathology and the problems we have to face every day. It is very encouraging to know that you are not alone, but that, indeed, on the patient front, there are many people all over the world who, like me, react, adapt and often gradually overcome daily difficulties. On the medical-scientific front, it is equally stimulating to know that, all over the world, there are scientists committed to finding possible cures for our pathology, but not only that, also for all other pathologies, and who are therefore there to help all of us suffering from some disease, even if they themselves do not have any pathologies. This gives me a lot of strength because there is a common factor that binds us which is to help those in need: after all, this is also the philosophy of our UILDM patient association, and ultimately of FSHD Society and FSHD World Alliance! Last but not least, very important are doctors like those I know and appreciate at the NeMo centres who work hard every day to find quality of life solutions for us patients. In short, it's all this getting busy and proactivity that inspires me.

 

3.What is your expectation for the future of people with FSHD given the tangible progress of researchers on FSHD?

Certainly positive, it will take time, but I am extremely confident that sooner or later a solution will be found that will "defeat" this pathology.

Personally, I believe that even after having found a cure for FSHD, it will still be important for us patients to continue carrying out all those activities that are fundamental to our health, one of which is physiotherapy. I am a great supporter of physiotherapy which everyone should do, regardless of whether they suffer from a pathology or not.

Furthermore, I am deeply convinced that, through scientific research, we will be able to block the gene causing FSHD, but probably, the people who are most affected, as in my case (not a walker), will not be able to walk again solely thanks to progress in the medical-scientific field. I am convinced that it will also be necessary to do physiotherapy, engage in rehabilitation, taking on a balanced diet with the addition of ad personam supplements, and, last but not least, take advantage of aids such as corsets, braces, prostheses and exoskeletons to improve our daily life.

In the end, however, I believe that it’s us the patients who must want it: our own health is above all an act of will, so we need also to make some sacrifice. Physiotherapy, for example, constantly practiced over time, can help us improve our physical condition and carry out activities we never imagined we could do!

In conclusion, I think that the key to making the lives of us patients easier in the future is given by an ecosystem of multiple factors, each of which bringing its own benefit.

 

Interview by Maria Giovanna Tortora, Gruppo FSHD UILDM