There continues to be an extended approach to go however, certainly, this step is a superb advance within the case of little Valentina, a child from Los Barrios (Cádiz) who suffers from congenital hypomyalizing polyneuropathy sort 3. An ultra-rare illness distinctive in Spain, with out therapy or treatment, and whose solely hope is a examine by a gaggle of researchers from the Pablo de Olavide University in Seville.
After three months of working towards the clock, his household has obtained the 25,000 euros wanted to start out the investigation led by Professor José Antonio Sánchez Alcázar. This skilled in uncommon and ultra-rare illnesses tries to “mannequin the illness in cells derived from the affected person and search therapeutic options with medicine which might be in the marketplace and whose results are already recognized,” he says. The goal is to hold out fixed checks with these medicine to discover a answer that slows down the development of the illness and, in the very best of circumstances, cures it.
“I can solely thank every one in every of you as soon as once more for by no means leaving us alone, for persevering with to present us encouragement, power and hope,” acknowledges Cristina Gutiérrez, the little lady’s mom. The quantity collected in somewhat over two months, because of the solidarity of many individuals, is just half of what they should perform analysis on this illness brought on by an absence of myelin, the protein that covers the nerves, and whose absence makes these affected hardly have mobility or muscle groups.
They proceed to boost cash to achieve 50,000 euros per yr
“We have paid for the primary a part of the investigation. €25,000 that we now have all achieved. Although it’s a very bittersweet state of affairs, for us this present day is essential, a brand new path begins”, factors out Cristina, who insists that it’s essential to “proceed rowing and including”, in order that the investigation continues and reaches 50,000 euros per yr. For this cause, they proceed to arrange raffles, distribute piggy banks and attend occasions. “Valentina may be very fortunate, as lots of you inform me, she is somewhat little bit of everybody”,
When she was born, she was barely given 48 hours to stay, and but the little lady has already accomplished her first yr. She has a tracheostomy, eats by way of a tube, and desires mechanical air flow at evening. But Valentina appears to be like at all the pieces by way of eyes vigorous and a shy smile. Just a few months in the past she did not even gesticulate. Small steps that she achieves because of the every day physiotherapy periods with which they attempt to fight her hypotonia (low muscle tone).
The life expectancy is unknown. “We solely know that by statistics, the bulk die in childhood resulting from respiratory issues,” says his mom. For this cause, life runs towards the clock for this household that doesn’t surrender. These first 25,000 euros, collected from solidarity, are the start line for a hope that they don’t lose.
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