At three years and ten months respectively, Hugo and Emma are two children whose future is in suspense. The two little ones suffer from Sanfilippo disease type B, a pathology neurodegenerative and rare genetic, which leads to premature death in adulthood. The only hope for saving these children lies in injecting the missing enzyme into the brain. Problem, this clinical trial has a cost: 4 million euros. This envelope would fully fund this therapy for three children.
Not having this sum, Alicia and Julien, the parents of Hugo and Emma, are struggling to succeed in raising funds through numerous actions: appeal for donations on Facebook, leaflets, creation of an association, reports france blue. “For Emma and Hugo, there is real hope, but it’s a race against time to get them into a clinical trial that can change their lives. Because of their exceptionally early diagnosis, access to therapy gene is a guarantee of promising efficacy against a progressive and degenerative disease”, specifies the site of the online kitty. At the time of writing this article, 79,786 euros have been raised.
A rare disease linked to an enzyme deficiency
San Filippo Syndrome is linked to the accumulation of molecules called mucopolysaccharides in the tissues of the body, specifies the Pasteur Institute. “Because of a genetic mutation which causes an enzyme deficiency, the body is unable to eliminate them”. The absence of this enzyme disrupts the development of the brain, and ends up being toxic for the brain cells. Neurological damage is manifested by certain symptoms such as cognitive delay. A regression of physical and neurological achievements follows.
To participate in Hugo and Emma’s pot: https://www.helloasso.com/associations/vaincre-les-pathies-lysosomales/collectes/hugo-et-emma-un-combat-pour-la-vie
And on Facebook: https://www.facebook.com/HugoEtEmmaUnCombatPourLaVie/
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