The small town of Chaumontel (Val-d’Oise) is mobilizing this Sunday to raise funds to save Hugo and Emma, both suffering from a rare neurodegenerative disease which slowly destroys the brain and reduces their life expectancy.
Aged 3 and 1, Hugo and Emma both have Sanfilippo disease type B, a rare neurodegenerative disease that slowly destroys the brain and reduces their life expectancy. clueless faced with the current lack of treatment, their parents have spear an online kitty last summer in an attempt to collect 4 million euros so that their children can integrate a clinical trial that they must fully fund. For the moment, 1.2 million euros have been collected, but the family does not despair.
Aged 3 and 1, Hugo and Emma both have Sanfilippo disease type B, a rare neurodegenerative disease that slowly destroys the brain and reduces their life expectancy. clueless faced with the current lack of treatment, their parents have spear an online kitty last summer in an attempt to collect 4 million euros so that their children can integrate a clinical trial that they must fully fund. For the moment, 1.2 million euros have been collected, but the family does not despair.
This Sunday, the small town of Chaumontel (Val-d’Oise) mobilized. A 4 km race, a 20 km mountain bike ride and several activities were organized to raise additional funds. “We are very moved by this surge of solidarity! It was the butcher of Lamorlaye, a neighboring village, who was touched by the story of our children and who triggered the initiative”, explains to the Parisian Julien Mercier, the father of two children.
“Hurry up”
Corn “time is running out,” he recalls. The clinical trial must begin “as long as the children’s brains are preserved.” Indeed, the first symptoms of the disease generally appear between the ages of 3 and 6: they associate cognitive development with hyperactivity, autistic behavior and sleep disorders. This is followed by an intellectual deficiency and a reduction in motor skills, which lead to a loss of autonomy around the age of 10. Progressive nerve degeneration usually causes death in the years that follow.
On his website, the Institut Pasteur explains that Sanfilippo type B disease is due to an accumulation of molecules called mucopolysaccharides. Due to a genetic mutation causing an enzyme deficiency, the body is unable to eliminate them. Their accumulation then disrupts brain development and then becomes toxic to brain cells.
An encouraging old clinical trial
If the parents wish to start a new clinical trial, it is because a precedent, conducted in 2013 in France, had shown encouraging results. “It was a question of coming to implant by direct injection into the brain genetically modified and healthy genes. The follow-up of the treated children shows that the implanted gene has spread and developed within the brain”, write Julien and Alicia Mercier on their HelloAsso page.
“On the basis and results of this first trial, but also of the study of other trials conducted in France and internationally, Professor Marc Tardieu and Doctor Jean-Michel Heard believe that cerebral injection could be doubled intravenous injection to offer high therapeutic potential. For Emma and Hugo, the possibility of changing the future can be real. This is the meaning of this call for a trial with double injection to be able to take place in France and in a sufficiently short time to integrate Emma and Hugo.”
They therefore hope today to collect this astronomical sum thanks to the support of Internet users. “We need your generosity to include our only two children in a clinical trial that can save them… We are two young parents, a mom and a dad totally helpless in the face of this nightmare we are living… Help us. And please, share massively in order to have every chance of adding days to the lives of our children, Hugo and Emma… Every donation counts and it is by making small streams that we manage to make big rivers…”, they write on the Facebook page “Hugo and Emma, a fight for life”.
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