They live with a Damocles sword above their heads. “Since he was very young, Eden has suffered from digestive disorders. But, despite the examinations and visits to several specialists, we were assured that he was fine, “recalls Tomy, the father of the family. Farah was always convinced that something was wrong. In October 2020, the family welcomes another little boy, Abel. Eden, he was hospitalized in March 2021 when he was four years old. The medical team once again carried out numerous examinations and various analyses.
Thanks to the results of a blood test, urine tests and genetics, the medical team finds that the dosage of heparan sulphate in Eden’s urine is not normal. “We received a letter informing us of this result and explaining to us that it could be a sign of certain diseases, including Sanfilippo syndrome,” explains the young thirty-year-old. Quickly, a test confirmed the presence of the same disease in the five-month-old child.
Sanfilippo syndrome results from an accumulation of heparan sulfate molecules. “This is due to a genetic mutation that affects the activity of an enzyme necessary for the breakdown of heparan sulfate. These badly degraded molecules, which cannot be eliminated, hinder the normal development of the brain and then destroy the brain cells”, indicates the Institut Pasteur, which recalls that the first symptoms are a delay in cognitive development associated with hyperactivity, behavior autism and sleep disorders. Generally, the first signs of the disease appear before the age of three. “It takes two parents carrying the mutation and their children have a 25% risk of being sick, and a 50% risk of carrying a mutated gene, without being sick”, details the Alzheimer Research Foundation.
This syndrome, also called infantile Alzheimer’s, affects approximately 150 children in France. About 15 have type C, like Abel and Eden. “Our sons are growing normally, the disease does not necessarily manifest itself. But, they will reach a plateau and then start to degrade. Over the years, they will lose what they have learned,” says Tomy. Around the age of ten, the neurological impairment leads to an intellectual disability and a reduction in motor skills which lead to a loss of autonomy. Today, this disease is incurable. It is only possible to relieve certain symptoms.
“We are in a mad fight to save the lives of our children. Currently, there is a lack of funds to set up a clinical trial. For this, we have opened an online fundraiser,” explains the father of the family. In this race against time, nearly 980,000 euros have already been collected. 500,000 euros are needed to fund a so-called “Natural History” clinical study of Sanfilippo disease in France. This is a mandatory prerequisite before conducting the clinical trial. During this first step, there is no medicinal aspect.
Since that first ordeal, the family has grown and both boys now have a little sister. For her, a screening was carried out before birth and she is not a carrier of the disease. “This double announcement of the incurable disease of our sons was the worst moment of our lives. Nothing will ever be the same again, it’s a shift towards the unknown. Our therapy for us is this fight. It is thanks to this that we have recovered. Today, despite the horror of what is happening to us, we have decided to live each moment intensely and always bring joy to our homes. The second stage of this clinical trial will be gene therapy aimed at injecting the missing functional enzyme into the brain. Only option to modify the evolution of this disease.
