Ashley Zambelli, a 23-year-old American, was pregnant with her sixth child when her doctors discovered she had Down’s syndrome.
Until she was 23, Ashley Zambelli, a young American, didn’t know she had Down syndrome, another name for trisomy 21. It was during her sixth pregnancy that her doctors discovered that she was a carrier of this anomaly after carrying out a genetic test. Indeed, they are especially challenged by the fact that the sixth child she was expecting is a carrier of trisomy 21, as was the case for her first child born in 2020, but also during a miscarriage in 2019, as bring it back The Independent.
The specialists, having never seen three cases of trisomies in the children of a person who is not affected by the anomaly, therefore prescribed to the young mother of the family the realization of a karyotype, that is to say a mapping of all of its chromosomes. And, the results are without appeal since the 23-year-old woman actually has three 21 chromosomes. The doctors discover in particular that she is suffering from a rare form of trisomy, called “mosaic trisomy”.
What’s next after this ad
Suffering from a rare form of trisomy
People with this particular form have fewer physical differences and are less affected by the disease. They can therefore live on a daily basis without knowing that they have this anomaly. For Ashley Zambelli, she doesn’t see “these tests as a bad thing, but as a tool for better understanding“, she explained on instagram. After getting the results, the young woman even felt relieved. “I was happy to learn it”she pointed out.
Since her condition can’t be seen with the naked eye, Ashley Zambelli also explained that some people tell her that she doesn’t look like she has the condition, because “many associate trisomy 21 with facial features”. Through her story, the young mother wishes to serve as an example and hopes to encourage people with inexplicable symptoms to get tested.
Because, according to The IndependentAshley Zambelli remembers having few small symptoms throughout his life. The diagnosis therefore provided him with answers. When she was younger, the young woman said she had trouble concentrating in school, her kneecap dislocated easily, her jaw malfunctioned and her heart rate was high. Even today, she has difficulty understanding certain types of humor and does not always pay attention to what she says. Through her words, she can sometimes hurt without being aware of it.
Pauline likes deciphering current events as much as telling the latest stories of your favorite people. When she’s not scrutinizing the lives of stars, she spends time…