For the July #RARETalk, we have interviewed a #RAREvolutionary family. It's the special story of Alessandra and her son Niccolò diagnosed with Glycogen Storage Disease.
1) Hi Alessandra and Niccolò, welcome on the RE(ACT) Community. Can you tell our readers something about you?
I’m a journalist and author of books for teenagers. I’m currently the Press Office Manager for the AIG, Associazione Italiana Glicogenosi. In 2010, I have organized on behalf of AIG, the presentation of the movie ‘Extraordinary Measures’ and in 2012 the exhibit ‘FotografRARE’ in Milan. I also wrote several books distributed in hospitals and medical facilities: ‘L’elefantino Tobba’ and ‘Le favole del termometro’, both thought for supporting the association’s activity. I am the author of ‘Cotton Blu orsetto dal codino blu’, sold in bookshop (copyrights of the book were transferred to AIG association). I co-wrote a book with my son Niccolò, ‘Quattro Ali per volare’ that has been chosen by Genzyme (Sanpofi Group) to raise awareness on rare diseases. This book was the source of inspiration for a musical, realized in partnership with ‘Danzamania’ School of Trezzano sul Naviglio (Milan). The musical has been played in Buccinasco (Milan), Florence, Alba, Cagno (Como), Corsico (Milan), Modena and in several schools with the objective to approach young people to the rare disease world.
My story has started 24 years ago. I’m always amazed at everything around me: the world is wonderful. I live with Glycogen Storage Disease that forces me to eat every three hours, even if I’m not hungry. If you face hard problems as a child, you can also develop a great strength: my strength is the desire to leave my mark on the world. I have almost finished a Master of Entrepreneurship and business (Erasmus University of Rotterdam), thanks to it I have learnt more about innovation and start-ups. I left Italy only temporarily: the roots we have are hard to be eradicated and I wish to make the difference in the country where I was born.
2) What is the plot of “Quattro ali per volare” ?
Aurarosa and Giulio are the two protagonists. She is ironic, intelligent, combative and she plays with her rare disease, transforming her limits in strengths to face life challanges. Giulio, loves numbers, hates living with divorced parents and the alcoholic grandmother: he dreams to give his school’s white walls a soul, by painting two big wings. 'Quattro ali per volare' is a tender and funny book for everyone. The book was the source of inspiration for a musical, realized in partnership with the School ‘Danzamania’ of Trezzano sul Naviglio (Milan). At the beginning, the project had the goal to promote the book, now it is an occasion to spread the voice about Glycogen Storage Disease.
3) What this experience has left you?
Writing this book gave me a great calm. It touched the heart and soul of many people that read it or watched the musical. What else? Now, we’are writing another book hoping for the same success.
The book gave me the desire to do outing with the journalists, declaring to be Aurarosa and to have a rare disease.
4) How does Associazione Italiana Glicogenosi work?
The AIG - Associazione Italiana Glicogenosi - was founded on September 1996 thanks to a group of families with children diagnosed with Glycogen Storage Disease. The main objectives of the association are:
- Provide practical and psychological support for families and patients
- Raise awareness on Glycogen Storage Disease among people and institutions
- Promote scientific research
What has the association done so far?
- Helped families to face challenges associated to the disease
- Provided consultancy activities for patients and families (psychological, specialists, legal)
- Support in the purchase of medical devices to measure glycaemia
- Organized national conferences on Glycogen Storage Disease with the participation of Italian families and many researchers
- Realized two books for little patients (Il mio amico Tobba and Le favole del Termometro) and one for teenagers (Quattro ali per volare)
- Built a presence on the web and exchanged information with other European and extra European associations.
What will the association do in the future?
- Awareness campaigns promoted throughout the national territory
- Training for medical and paramedical staff
- Conferences on the most recent developments in genetic research
- Scholarship to promote the knowledge about the disease
- Finance research projects and gene therapy
5) Do you think that crowdfunding and knowledge sharing platforms, as the RE(ACT) Community, can push the research forward?
Sure. ‘Quattro ali per volare’ has been translated in German. We would like to translate the book also in English, in order to promote it together with the musical in other countries and we are thinking to use crowdfunding to do it. With hope to find a cure that doesn’t exist yet and that we are waiting for.
Crowdfunding and knowledge sharing platforms can help to spread the voice about rare and orphan diseases, but the hardest challenge is to create an emotional contact between patients and who can make the difference supporting and financing research. So it’s necessary to amplify the voice on rare and orphan diseases: video that can show how is the daily life with a rare disease, events in crowded places can be useful, web conferences may allow everyone to tell the personal experience, even if with the computer. Only in this way we can overcome obstacles that stop research: platforms will be the technological tool to transform the desire to help patients and researchers in concrete actions.
6) Your book sold 3000 copies and became a musical. In 2013, the Associazione Italiana Glicogenosi organized the exhibit "FotografRARE". Art can be an important tool to spread the voice on rare and orphan diseases research. In your opinion, new technologies can amplify researchers and patients’ voice?
Patients with a rare disease have to raise the voice, take part in activities and be able to valorise their potential, not living the disease passively. Without an emotional contact, technologies are sterile. So, it’s necessary to promote initiatives that can touch people’s hearts and that are able to attract interest not for curiosity, but as a social mission. The disease has to be transformed in hope for research, difficulties have to become an occasion to reflect and grow up.
7) Which are the main challenges and how your #RAREvolutionary family can face them?
- Create awareness on Glycogen Storage Disease
- Encourage who was born with a rare disease not to feel ashamed
- Find a cure
These are our challenges, but we are still looking for suggestions for making things real. Can you help us?