Por una causa noble / For a noble cause

Aquí les paso esta información. Realmente me ha roto el corazón la situación de esta familia. De esta y de todas las familias que tienen casos similares. He tenido la oportunidad de convivir con personas que sufren de enfermedades genéticas sumamente raras, y he visto el calvario que es para ellos el obtener ayuda, el conseguir que su voz se oiga. La lucha diaria, día a día por conseguir medicamentos, por pagar estudios, por hacer que su voz se oiga.

En este caso, es la enfermedad de Sandhoff, y el caso de esta niña, es el único en Italia. No se cuantos niños hay con esta enfermedad, pero es incurable y mortal. Aquí les paso el post en inglés, para que puedan leerlo, y si están interesados en ayudar, mandando algún toy, algun poster o lo que sea para una subasta que recaudará fondos para esta niña y para hacer estudios de campo, sería fantástico.

La dirección es esta:
simona marrazzo
vico latilla 15
80134
Naples
Italy

Hello! We’re Francesco and Simona, we live in Naples and we have two children: Mattia and Nicolò. Unfortunately, Mattia is born with the “Sandhoff Syndrome”, a genetic, degenerative and lethal disease. We’re creating the “Mattia Fagnoni Association”, in order to raise funds for finding a cure for this disease and provid...ing support for the ones who would need it.Here, in Italy, Mattia is the only one who suffers for Sandhoff Syndrome; so all is more difficult for us because we’re alone and it’s hard to get practical advices and to find some help from someone who know what is this disease and how to behave.Thanks to our researches, we met many families around the world and they helped us, giving us useful advices: their presence, even from afar, has been important in difficult moments. Sandhoff Syndrome and Tay-Sachs Sindrome, are metabolic illness: sick persons are subject to the absence of the main enzymes that facilitate the release of toxins, produced by brain cells; cells gradually become sick and they create imbalances in the child that become increasingly severe. In the first 8 / 9 months of age, the child show any problem; only from 10 months onwards the first signs start: alas! Sandhoff Syndrome is difficult to diagnose because only one case in a million suffer for this illness, and you can identify it only by a Prenatal genetic diagnosis.We started to notice something when Mattia was in his 6th months of life, because he was unable to crawl and sit up, all basic steps in the stages of development.
Since then, our ordeal began: worsening of vision made Mattia almost blind.Now Mattia is in his 27th months and his condition is worsening day by day, more and more: he’s not able to move, no more and only touch and hearing, among his senses, are functioning.
Since doctors have diagnosed the disease, after many suppositions of other illnesses not so serious, we are fighting against something bigger than us. Our struggle is not only against disease but also against the bureaucracy, since it is not easy to assert our rights and to receive from them the right support.
We turned Pain and Discomfort into Strength and Stubbornness: this is what we want to convey to the ones who live situations like ours, because, even though we are in 2010, disabled person are not respected as they should be.With our artistic past and a previous experience in public relations, we decided to exploit our capacity to bind and unite artists (and everyone who can help us) in one big group. We are looking for anyone who can help us with whatever available resource. Even the mere dissemination of our message is a great help.
The ultimate goal is a financial support for researches, to find a cure for Sandhoff syndrome.We would like to be an Italian and European landmark , together with "NTSAD", currently the only
association in the world applying itself to fight metabolic diseases and to aid families with similar problems.It is right that a chance is given to these children! Probably Mattia will live no longer than few months, but we hope a cure should be found, to help children who will born with these problems in the future and to give to their parents the possibility to imagine a future.To take information about Sandhoff Syndrome you should visit the site www.ntsad.org. This site is in English but it is the only one comprehensive of informations about genetic diseases and for solidarity with the families with these problems: to this Association we will give funds we will receive.We are creating an Italian site about Sandhoff Syndrome and about the life of little Mattia.
In the meantime you can contact us on Facebook: add to your contacts "Mattia Fagnoni”.

Thank you in advance.
Francesco and Simona

Pasen la voz!