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The ARSACS ODV association is one of the associations that have joined the Telethon Foundation’s “Fall Seed Grant 2021” project to finance research projects on Charlevoix-Saguenay spastic ataxia.

When you are faced with a rare genetic disease, you have two paths ahead: let yourself be overwhelmed by the loss of orientation or start sowing. Susanna and her husband Paolo have chosen the second path, and since they learned that their second son Edoardo was suffering from ARSACS (or Charlevoix-Saguenay spastic ataxia) they have done nothing but sow small seeds with the hope that sooner or later they will give their fruits.

This is why the ARSACS ODV association, of which Susanna is president and which is a reference point for families facing this disease in Italy, has decided to raise funds for the Telethon Foundation’s Seed Grant. It is a decision shared by the whole family: “We want to sow now, we live it as an urgency. Edo is 9 years old and time passes quickly, her disease will progress. We are aware that we could reap the fruits of our work perhaps in 20 years, because we know that research times are long.

A DISEASE NOT REALLY WELL KNOWN
Edoardo’s disease manifests itself in the first years of his life in his great difficulty in walking, a stumbling block that he has overcome thanks to physiotherapy and a lot of training. He now walks and would never stop, not even when he falls. It happens often, but he gets up, looks around quietly, and starts again.

The main problems are related to the coordination of the hands when he has to make small precise movements, in fact he has difficulty writing and will soon need specific supports at school. He is passionate about chess and is proud to be able to beat even adults. He has been able to speak well so far, but over time, it will probably be more difficult and it will be necessary to resort to speech therapy exercises.

Mom Susanna and dad Paolo founded the association four years ago, as soon as they had Edoardo’s diagnosis. It is the result of “a personal need to understand, find answers and get to know other people who were in the same condition”.

At that time the Internet did not return comforting information: there was no cure and most of the funding was concentrated on the most frequent form of ataxia, hereditary spastic ataxia. Not only that, the clinical identification of the disease itself was a very recent achievement.

Searching relentlessly, they discovered that there was a foundation in Canada that collects funds for research on ARSACS and that every year organizes a conference to connect the few researchers who study it and the families involved.

They didn’t think much about it and within two months they left for Canada to attend the Foundation’s convention. To their surprise they discovered that there are two Italian researchers studying the disease, one at San Raffaele in Milan and one at Stella Maris in Calambrone (Pisa).

Research is very important and it is essential to fund basic research

Even if there are still no specific therapies to stop the progression of the disease, Susanna and Paolo are very confident because for them “research is very important and it is essential to finance basic research and promote contact between researchers working in different countries”. They are very attentive to all the steps forward: “We see that there are moments of stasis, in which it seems that nothing is happening, but then suddenly something is discovered and we move on to the next step”.

Furthermore, they themselves study and seek solutions to offer Edoardo (Paolo is an orthopedist) a freedom compatible with his difficulties and his times. For example, when they realized that Edo would not be able to balance on a bicycle, they were not discouraged and bought a trike, a three-wheeled bike that allows the child to pedal while seated and «that was a turning point: his eyes lit up in the face of that independence achieved ».

It is in their spirit to never stop, as Susanna explains: We created the Association to believe in it and not to stand still with our hands in hand, perhaps finding ourselves in a few years having to explain to Edoardo why we did nothing for him”. So, as the scouts wish, good road to Edo, his parents and the families with Arsacs!

Make a donation with a bank transfer to Arsacs odv –

IBAN code: IT37Y0301503200000003669581 (Fineco Bank). This is only for the Italians indeed.

No money transfer to the code above from abroad Countries please.
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