A British mother of three testifies about Sanfilippo disease from which her son Stanley suffers.
“He has regressed dramatically this year: he has lost all his words. It’s really hard, you feel like you’re losing a part of him every day.” In The Mirror, Mari Barnes recounts her heartbreaking battle with her son’s illness, who has Sanfilippo disease, nicknamed “the infantile Azheimer”.
A rare neurological disease
Sanfilippo syndrome is a rare and incurable neurological disease of genetic origin. The first manifestations in childhood are a delay in cognitive acquisition and behavioral disorders, which gradually evolve towards a severe regression of psychomotor skills and multiple disabilities.
“Stanley’s freshman year was relatively normal,” thus testifies the mother of the family. “Then I saw a big change in him. He just stopped going through developmental milestones, and we were referred to a pediatrician – which allowed us to get a really really early diagnosis (unlike the majority of children with this disease, often confused with autism, Editor’s note)”.
An experimental treatment
Diagnosed at 16 months, the little Briton benefited from an experimental treatment based on enzymes, intended to slow the progression of the disease. If he is in better health today than most other children with Sanfilippo disease, “evolution is rapid”, his mother is upset, noting that he no longer recognizes her when she goes to pick him up from her specialized establishment. “Even six months ago he might have been able to recognize us. Now, as soon as we leave the house, I have to hold his hand, otherwise he goes in the wrong direction.”
She says again: “over the weekend he ate a burger and managed to say the word ‘hamburger’. Honestly, I almost cried. It’s been a long time since we’ve had that kind of identification. That makes things even more special to know that he is still there.” The life expectancy of little Stanley does not exceed, according to statistics, more than 20 years.
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