2003 FIRST PARTIAL DIAGNOSIS
It all started in 2003, when our second child was diagnosed with the disease. A partial diagnosis of Limb girdle muscular dystrophy due to sarcoglycan deficiency, they told us that there were 3 types and other investigations needed to be done. I was 7 months pregnant with my fourth child, who after a month was born. A beautiful baby, apparently, but also sick, it was seen from a blood draw, but there were no symptoms and so we decided that this bad news should have not left the house and we kept it a secret for 6 years.
After the diagnosis we were not sure about the type of this disease, we were told that as adults these children usually cannot climb stairs, but the doctors also added that they could not say anything about how our children would be in twenty years, because the pathology evolved differently according to the subjects. Between one hospitalization and the next one, my husband and I felt alone, sometimes the loneliness lasted more than a year.
Our family therefore found itself groping in the dark, as happens to many who encounter one of these rare and unknown pathologies on their path. Not much was known about this disease, about the symptoms it would entail in the years to come, the only certainty was that there would be worsening. We didn't know who to ask to, when we did it with someone we realized that they didn't know this name. I too, frankly, did not imagine that there were such unknown diseases.
THE SEARCH FOR INFORMATION
In the meantime we did not settle for what they told us in the hospital and we changed our strategy, we tried to understand what it was about on the internet, hours, days, weeks of investigations and data collection, but even there we could not find anything interesting for us.
We therefore moved on to another strategy, infiltrating in all the associations of muscular dystrophy in Italy and abroad. We have participated in many congresses on the subject and we continued to study and collect information of all kinds, but always little about our disease and many about others.
2007 THE DEFINITIVE DIAGNOSIS
Finally, after four years of pilgrimage to various hospitals and constant requests, the complete diagnosis arrives, it is a LGMD2E or LGMDR4 (Limb girdle muscular dystrophy). We finally knew exactly where to look for. After a year, attending patient associations, we also got to know another family, the first one, who had a Limb girdle muscular dystrophy like ours. 5 years have passed since the diagnosis, we have been looking for it for 5 years, we have always asked "but what muscular dystrophy do you have?" and now finally the answer we wanted: LGMD2E or LGMDR4, finally we know someone with whom we can compare and talk about the same "thing".
LIFE IN PATIENT ASSOCIATIONS
In the associations we began to acquire a greater awareness of the path we were facing, to learn about the problems relating to the management of our children and the strategies to overcome them. Here I must say that the comparison with other parents was fundamental for us.
From participating in the world of patient associations we realized that it is not enough to inquire and ask, but you need to get busy yourself, become experts and active, stop simply being parents. From 2007 to 2010, my husband and I coordinated the fundraising campaign in the province of Sondrio for research on muscular dystrophy for two associations of Muscular Dystrophy and we followed a research project at San Raffaele in Milan, which used stem cells to muscular dystrophies, which however was not successful.
2010 THE DISAPPOINTMENT
By attending patient associations, however, we did not find what we were looking for, nor precise information about our disease, nor a research project aimed at finding a cure for us. Our egoism? Always thinking about us? A little demoralized, we realized that research projects are funded only on the most common forms of muscular dystrophy. It was not our case. Limb Girdle muscular dystrophies, including beta-sarcoglycanopathies, have been discovered a few years ago, cases are rare among rare diseases, and there is no investment and research into them. A black period, when we were also demoralized by another event, the loss of walking of our second child, after only 7 years from the diagnosis. Now the disease is no longer hidden, but unfortunately it is clearly visible, hope disappears.
At that moment something different was needed, a precise answer, something that would give us the strength to continue, the answer was a specific association for LGMD2E or LGMDR4, because there was no association focused on this disease, neither in Italy nor abroad. An association to bring together all those, albeit few, interested in this rare dystrophy, a group dealing with the disease. And today, after 9 years, we have passed a number of 400 patients within GFB group.
THE VIRTUAL STRATEGY
So, in 2010 we changed our strategy again, we went from concrete work in the area of fundraising and support for other large associations, to virtual work, more targeted, with the internet and social networks. First the website www.gfbonlus.it was created, then the facebook and twitter profiles. A colleague of mine had suggested me how to do it, her son also had a rare disease and the information and patient groups were on facebook, they had to go and get them. Thanks to social networks we have entered a new world and we have crossed the geographical borders of the region, of Italy, of the Italian language. Fortunately, there are automatic translators. Our children made us do things we never dreamed of, travel to every corner of the planet, drive anywhere and any means, resume the study of English and many other things. Our children brought out so much strength that we didn't know we had.
TOWARDS ANOTHER WORLD
Until 2013 we worked virtually and came into contact with many other Italian and foreign families. One of these families opened the door to another world for us, the door to gene therapy.
2012 THE GENE THERAPY PROJECT
Thanks to this family, known through our website, in 2012 we began funding a gene therapy project in America, led by Professor Jerry Mendell at Nationwide Children's Hospital in Columbus, Ohio. The goal of the project was to find a cure for our LGMD2E or LGMDR4. We started from nothing and without money, with funds made available by families. To follow the project we created a medical scientific commission of the GFB Onlus and our luck was to find two researchers who worked abroad, outside the usual Italian schemes we knew. These researchers opened our eyes and made us aware of what we were doing, explaining the stages of the project well. By now we could only think about this project, everything else had become secondary.
2013 REGISTRATION OF THE STATUTE
At this point it was no longer possible to continue to operate informally, the Group had to be registered with a precise statute, to take the next steps. In 2013 we thus formed the Beta-Sarcoglycanopathies non-profit group association, called GFB Onlus. A difficult choice, pondered over the previous 3 years, with the risk of isolating oneself and being alone, out of other associations. What to do? Stay in the heap and accept what the convent passes, or set out on new roads? My husband and I chose the latter and since then, we have served as president and vice president, the management of the GFB is all in our hands. For us it was the first experience of this type, which we could not have imagined before, it was unthinkable in our environment such a situation, but we accepted the challenge.
The association becomes operational immediately and I would say that the exclusively virtual phase ends here. An international scientific congress is organized in Milan and a fundraiser for GFB Onlus is started. Meanwhile, funding for the gene therapy project continues. Until 2015, however, we are a bit quiet, as we are too busy with the formal obligations of having to manage an association and we hardly organize the first fundraising events ourselves.
2015 EXPLODES THE RESEARCH FINANCED BY THE GFB
In 2015 the first important awards for the GFB Onlus arrive. Preclinical results on the GFB-funded gene therapy project in Columbus are published in two scientific journals. In the publications it is clearly written that the only financier is GFB Onlus. The association has invested over $ 1,300,000 in this project. At this point the GFB is strengthened and takes courage, comes out of the shell and decides to communicate for the first time that it has financed the project in Columbus and that the results are very positive. The association is at a turning point.
Large donations arrive to the association and for this reason we now need a statutory auditor. The management of the association changes, it is no longer managed in a family way as in the previous two years, but from now on, it relies on professionals. My husband and I have remained at the helm of the association constantly, until today. But other figures are also included to support us: a journalist for the communication of the results, an accountant for accounting, non-profit banking institutions, specific figures for fundraising. For the first time I find myself making $ 200,000 wire transfers, never seen so much money all together.
At this stage we must make a decision to difficult, but necessary. We reluctantly decide to abandon recreational initiatives for the disabled, walks, trips, meetings for a while, and the association focuses exclusively on the gene therapy project. From now on he focuses only on that.
2017 NO LONGER ALONE
From 2010 onwards, the GFB has felt a bit lonely, it goes on on its own, working day and night, does not find other collaborations in Italy, as he hoped or perhaps he was deluded, it seems that the project does not interest anyone. The GFB's loneliness makes him weak, unable to continue supporting the project, albeit very promising. So the association looks overseas, in search of other collaborations, and the company Myonexus Therapeutics is born. The GFB is the only European entity present in Myonexus, but for the first time it is no longer alone and is further strengthened. With him are other American foundations of patients with related diseases and other investors as well. Having a "Family" in America is however a security and a guarantee for the whole group.
To enter Myonexus, the GFB is forced to open the Terzo Valore loan of € 200,000. A very risky move, at high risk, which however finds much response and participation, to the point that GFB still receives many other donations.
2018 AGREEMENT WITH THE PHARMACEUTICAL COMPANY
At the end of 2017, Dr. Mendell, who follows our project, publishes the results of another project similar to ours, in the most prestigious scientific journal in the world. Many gene therapy investors arrive and someone also arrives for our project. The Sarepta company signs an important agreement with Myonexus and the first investments for the treatment of patients begin.
Three years have passed since 2015, the year in which the results of the preclinical phase were published, but treatments on the first patients with our disease have not yet started. Hope in any member of the group vanishes. The times seem too long. Then in November 2018 Sarepta announces that the first three guys have been treated and the enthusiasm in the group skyrockets.
2019 THE TURNING POINT
In February 2019 Sarepta publishes excellent preliminary results on the first 3 patients treated and decides to acquire Myonexus early.
Now the GFB is calmer, aware that the Sarepta company will complete the gene therapy project for all patients. The association, at this moment, however, has no time to waste to rest, since July 2018 it has been working on the creation of a patient register of the GFB Onlus, to allow patients to participate in all future trials.
Talamona, March 17, 2019
Beatrice Vola and Marco Perlini