Little Gaspard, who became a social media star, died of Sandhoff’s disease. This rare genetic disease has no cure.
Gaspard’s fight against Sandhoff’s disease lasted three and a half years. His parents announced the boy’s death on Facebook this 1er February. “His knight’s soul ascended to Heaven,” they wrote. He left calm, without suffering, accompanied until his last breath by his mother. The child had a rare and serious lysosomal disease. Nearly 100,000 Internet users have accompanied him on Facebook. Enough to fill the Stade de France, said his parents.
Born in 2013, Gaspard was diagnosed with his illness in 2014, after his mother noticed several motor and brain delays. The ax falls: the child suffers from Sandhoff’s disease, a rare disease which affects one in 130,000 Europeans. Life expectancy is particularly short: it does not generally exceed four years.
An inevitable degeneration
This pathology is caused by an inherited abnormality on chromosome 5. The mutation is particularly serious: it prevents an enzyme in the lysosome from recycling cell waste. The particles therefore accumulate, causing dysfunctions of motor functions as well as neurological functions. No treatment currently exists to limit the damage or prevent degeneration.
The first symptoms appear between three and six months. They are manifested by early blindness, with a red spot that develops on the retina, macrocephaly, an increase in the size of the liver and spleen. Gradually, motor and cerebral functions deteriorate, respiratory infections appear. In the last months of his life, Gaspard was to receive assistance to eat and breathe.
.
