"I was very happy to hear about it." On Instagram, Ashley Zambelli said she was relieved after learning at the age of 23 that she had trisomy 21. A very late discovery for this kind of disease.
As reported by The Independent, neither the Michigan native nor the doctors suspected for a second that she was a carrier of Down syndrome, the other name for this genetic abnormality. Even though, in the past, the first child she carried before a miscarriage in 2019 had been diagnosed with Down syndrome, as was her newborn the following year.
23-year-old Ashley Zambelli went viral after she discovered that not only would she be having a third baby with trisomy 21 — also known as Down syndrome — but she herself had tested positive for the mutation.
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It was during a sixth pregnancy, and a new diagnosis of trisomy 21 for the unborn baby, that doctors decided to give a genetic test to the young mother. Specialists say they have never seen three cases of trisomy in children of an unaffected person.
"People tell me: you don't seem to be affected"
"These tests should not be seen as a bad thing, but as a tool to better understand each other," Zambelli said on Instagram. The results of the karyotype, the mapping of all chromosomes, confirm the idea of the doctors. The young woman has trisomy 21.
"People tell me: you don't seem to be affected. Many associate trisomy 21 with facial features. But the disease is not always visible to the naked eye," she adds on her social network. The 23-year-old actually suffers from "mosaic trisomy", a rare form of this genetic abnormality that has fewer physical, or psychomotor differences.
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According to The Independent, the young woman still remembers suffering from some symptoms during her youth: poor concentration at school, a kneecap that dislocated easily, jaw dysfunction and a high heart rate. Today, the American says she still has trouble understanding certain types of humor and does not always pay attention to what she says.