August 7, 2018.
Hugo (34 months) and Emma (9 months) both suffer from Sanfilippo type B, a rare genetic disorder. Their parents have all their hopes for an experimental treatment, but to complete their project, they must first raise 4 million euros.
Sanfilippo disease, a metabolic disorder with fatal consequences
There are genetic diseases for which science has not yet found a cure. And yet, all over the world, people suffer from these diseases, which severely limit their vital prognosis. This is particularly the case of two young French people, Hugo (34 months) and Emma (9 months), in whom the doctors diagnosed the disease Sanfilippo type B.
Sanfilippo disease manifests itself as a metabolic disorder which causes harmful substances not to be properly removed. As a result, they accumulate in the brain, causing developmental delays (language delay, cognitive disorders). A phase of hyperactivity follows, then a phase of physical and cognitive decline, ending with premature death between the ages of 10 and 15.
The clinical trial costs 4 million euros
Sanfilippo disease affects 1 in 70,000 children. This disease has a 1 in 4 chance of establishing itself when the DNA of both parents is lacking in a particular enzyme. No treatment currently exists, apart from an experimental one consisting of a double intravenous injection and directly into the brain of genetically modified and healthy genes.
Emma and Hugo’s young age allows them to be included in this clinical trial. In order to pay it, parents have embarked on an online fundraising : to date, 80,500 euros have been collected by the association VML (Vaincre les Maladies Lysosomales), which helps the family to set up the experimental treatment.
Anton Kunin
Read also: Genetic diseases: origins and management
