21 years old, an incredible determination and a conquering smile. This is Alessia Muraro, Member of the UILDM Section of Treviso, invited last December to testify her experience in Rai studios on the occasion of the Telethon television marathon. An adventure that we asked Alessia to tell us personally.
Alessia, what did the experience at Telethon represent for you last December?
When they asked me to participate in the TV marathon I was a bit perplexed, because I was afraid of getting too excited. On reflection, however, I realized that it would be a valuable opportunity to make my pathology known to the Italians, so I put aside my resistance and enthusiastically accepted the challenge. Once I arrived at the Rai studios, the managers of Telethon and the host Livia Azzariti welcomed me so warmly that I was completely at ease. It was a fantastic experience, in which I got to know the affection of the great Telethon and Rai family.
You have a very rare form of dystrophy that you are very aware of, right?
It's true, I strongly believe in scientific research, with the hope that one day these diseases will be definitively defeated! Research that for some years has been making some progress on my pathology, known as limb girdle muscular dystrophy * and considered neglected because it is very rare. Telethon and UILDM have funded a Patient Registry ** and exploratory projects are underway at the University of Padua. While in the United States, in Columbus, Ohio, clinical trials on gene therapy are underway ***. These latest initiatives have also been made possible thanks to the Betasarcoglycanopathies Family Group (GFB), of which I am a member.
You are very young, yet very active within the UILDM of Treviso. What initiatives have you recently promoted?
The UILDM of Treviso, in collaboration with the Coordination of Associations of the Province of Treviso, has "recruited" young volunteers in the high schools of the province to give life to a project for an accessible Treviso, trying to find the architectural barriers present and denouncing with a video all the difficulties of a disabled person to shoot in the city. We created a service broadcast on a local television network and, finally, we drafted a report with the possible solutions that we handed over to the mayor of Treviso.
You are a girl who is always sunny and smiling. Where does your positive attitude towards daily life and the many more or less easy challenges it launches come from and nourish it?
I am a person who loves life in spite of everything. I learned that anything is possible, even in a wheelchair. I was able to accept my condition and to face with a smile all the challenges that life has reserved for me, thus managing to overcome them. All this thanks also to the affection and warmth of all the people who love me, especially friends. Sometimes people are amazed at how I manage to live a normal life. I am a girl full of wishes and dreams, and some I have already been able to realize. The biggest dream? Being able to form a family!
How do you think the disease is seen today in the eyes of our Society?
Our Society has many prejudices towards people with disabilities. Even today there is the idea that the person with disabilities is only sick and sad, that they must be pitied and considered without potential. To make these people change their minds, it is necessary to emerge and demonstrate that it is possible to live a very normal life, even living with disability. (V.B.)
* What are Limb girdle muscular dystrophies
The muscular dystrophies of the girdles - usually referred to as LGMDs, an acronym that derives from the English Limb (limb), Girdle (belt) and Muscular Dystrophy (muscular dystrophy) - constitute a heterogeneous group of genetically determined diseases, primarily involving the musculature of the girdles, both pelvic (lower) and scapular (upper).
The clinical course is extremely variable, with severe forms with early onset and rapid progression and minor forms that allow individuals who are affected to have an almost normal life expectancy and motor autonomy.
For more information read all the information published on this site.
** Patient Registry
The Registry of patients with Limb girdle muscular dystrophy (in English Limb Girdle Muscular Dystrophy, hence the acronym LGMD) is part of a multicenter study funded under the Telethon-UILDM call proposed by a group of clinical researchers in medical genetics and neurology, which they operate in neuromuscular clinical centers distributed throughout Italy. Coordinator of the project is prof. Giacomo Comi, of the Dino Ferrari Center, Department of Neurological Sciences, University of Milan. The purposes of the registry are to create a clinical and laboratory research network that allows to estimate the relative frequency of patients with various forms of Limb girdle muscular dystrophy in Italy, to define their genetic basis and to collect, through retrospective data and targeted assessments. during the project, essential elements of the natural history of the disease, including neuromuscular, cardiological and respiratory aspects. For more information, click here.
*** Limb Girdle muscular dystrophy - OHIO study
Prof. J. Mendell, at Nationwide Children's Hospital in Columbus, Ohio (USA), began the second clinical trial of gene therapy for LGMD2D or LGMDR3 in six patients in October, which will end in March 2016. For this reason trials do not recruit patients.