2023-07-14 17:25:02
Answers to many questions. As reported by the media The IndependentAshley Zambelli, an American from Michigan, was diagnosed with Down syndrome, another name for trisomy 21, at the age of 23.
“I was in total denial,” she says on her Instagram account.
Until this revelation, the young woman was unaware that she was a carrier of this genetic anomaly, not carrying the facial characteristics.
Three affected children
It was the doctors who, during her sixth pregnancy, decided to have the young woman undergo a genetic test. Then 23 weeks pregnant, the child she is carrying is diagnosed as a carrier of trisomy 21. This was also the case for her first child born in 2020, but also during a miscarriage in 2019.
The specialists had never seen three cases of trisomy in the children of a person who was supposedly not affected. Note that his third child is not affected by the pathology. Faced with this improbable situation, they therefore prescribe to the mother the realization of a karyotype, that is to say the mapping of all of her chromosomes. Surprise: the young woman has three chromosomes 21.
Ashley is actually expecting a rare form called “mosaic trisomy.” Affected people have fewer physical differences, are less affected by the disease, and may therefore be unaware of having it.
small signs
However, several small symptoms suggested to the young woman, throughout her life, that an underlying health problem existed.
When she was younger, she claims to have often had trouble concentrating in class, but also to have suffered on several occasions from a dislocation of the patella, a weakness attributable to trisomy 21. She also claims to be the victim of a dysfunction of the jawbone and have an elevated heart rate.
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In her daily life, Ashley also admits having difficulty understanding people’s humor, and sometimes being the author of offensive remarks without being aware of hurting her interlocutors.
A relief
Far from being devastated by the announcement of the diagnosis, Ashley Zambelli welcomed her with relief.
“I was very happy to learn it,” she explains on her Instagram account.
“People tell me ‘you don’t look like you have it’. Many associate trisomy 21 with facial features. But the disease is not always visible to the naked eye,” she concludes.
The young woman wants her case to serve as an example and encourages people with inexplicable symptoms to get tested. “We should not see these tests as a bad thing, but as a tool to better understand ourselves”.
Original article published on BFMTV.com
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