Recently, this neurodegenerative disease has been known in Euskal Herria, since there are few cases in Euskal Herria, and for months a small light has been ignited: the possibility of a new treatment. Oier Iribarren Aizpurua is one of the sick, and her parents have explained to the journalist the details of the disease and the possibilities to address it.

What he had not had a remedy so far has on the table a clinical trial being conducted in the United States. But here it takes EUR 3 million to test children in the area. However, one cannot deny what can be and we know the festivals, meals and events organized in Euskal Herria to give financial support to the Stop Sanfilippo association.

Sanfilippo syndrome is basically a defect in an enzyme. Humans have a mutated tissue, and one of those mutations is the cause of the error of that particular enzyme. It is not common, as one in a hundred people suffers a mutation of this specific gene and is also recessive – it does not emerge. In other words, to solve and influence the genetics of the offspring, it is essential to collect the mutated gene from both parents.

The goal of this enzyme is to remove toxins produced by the body, but in order for it to perform its function it should make proteins that burn the toxins; if this fails, the toxins to be expelled accumulate in the cells. The end is hard for the sick, who die in adolescence due to lack of treatment.

This neurodegenerative disease has four types: A, B, C and D. The first is the strongest, and in Euskal Herria there are four cases of type A: Oier Iribarren Aizpurua of Ibarra and the brothers Araitz, Ixone and Unai Gartzia of Bilbao. Iribarren has been diagnosed at 2 years of age by Sanfilippo, her mother, Izaskun Aizpurua, pregnant in the second. But her daughter Maite has not received the genetics of her brother Oier, and the enzyme in question works well. Sanfilippo A is the one that most influences the mind and the mother remembers the doctor’s words well: “This disease licks the body and eats the head.” The 6-year-old has been admitted to Cruces Hospital for four months to study the development of the disease. Until mid-year, the only case of the A in the Basque Country they knew was that of Iribarren, but the case was known by the bilbain family.

At the same time it was known that until then there could be a gap, a genetic treatment, for a disease that until then had no treatment. The U.S. scientists team Abeona Therapeutics is working on this study in the last ten years and, after the good results so far obtained with mice and chimpanzees, they are now about to be tested in humans. The only genetic treatment that has yielded good results with children is done so far in Barcelona, and this would be the second, if everything goes well. It's about introducing from the veins a gene like the one that the mutated patient has, to create enzymes that work well and replace the others. The Stop Sanfilippo Foundation, driven by hope, is working on the possibility of bringing scientists to the city. But, as has been said, to do so it is necessary to raise EUR 3 million, and time is negative for neurodegenerative disease.

In the coming weeks, Abeona Therapeutics scientists will come to see what conditions exist to carry out the research, and it seems that Osakidetza will try to have a trial at the Cruces Hospital in late 2014 or early 2015.

With EUR 1 million

Since the research was known at the beginning of the year, researchers have earned a third of the money they need to carry it out. Stop Sanfilippo is a campaign promoted by the foundation of Madrid and, therefore, the money has come from different places. A significant amount of money has come from Euskal Herria, both from the campaigns carried out in and around Bilbao and from the many activities that have been organized in Tolosaldea. The parents of Oier Iribarren Aizpurua welcome the help that the citizens are receiving in one way or another. Popular meals, festivals, clowns, concerts, aizkolaris, popular races… have been in Tolosaldea, Goierri and Navarra during the last months, all to help the child. The last event prior to the summer in Alegia was held on 3 July: Five well-known Basque cooks prepared a dinner for 150 diners. The parents have said that they have asked a lot and that the neighbors, the groups, the shops, the ikastolas… have responded very well, and that, at least until September, they will let the atmosphere calm down. However, by September they have already started to organize other activities: for example, a group of Ibarra will offer a bateleras race along the river and by 27 September will play the concert of groups such as Su Ta Gar and Vendetta.

For six months, fathers and mothers, including Oierrena, Kepa and Izaskun, have gone from looking at the disease to what could be an opportunity. Not being completely sure of the results that the trial will give, but keeping what is already there, is that they do not know any other alternative for their child to continue living after adolescence.