Published on
Updated
Reading 1 min.
Marie Lanen
Head of parenting section (baby, pregnancy, family)
Ashley Zambelli, a 23-year-old American, learned that she suffered from a form of trisomy 21 when she was pregnant with her sixth child.
Ashley Zambelli, a 23-year-old American from Michigan, shared her extraordinary story on her Instagram account. Then pregnant with her sixth child, examinations reveal that the unborn baby is a carrier of trisomy 21. The young woman is already the mother of a child suffering from Down syndrome. In addition, in 2019 she had a miscarriage. The doctors then discovered that the baby was also suffering from trisomy 21. They therefore decided to investigate the medical history of the young woman.
A Mosaic Diagnosis of Trisomy 21
Cared for by several doctors, Ashley says that when she was young she suffered from several symptoms whose origin has never been investigated: poor concentration at school, a kneecap that dislocated easily, a dysfunction of the jaw and an elevated heart rate. The doctors offer the young woman to carry out a genetic test, a karyotype. The latter reveals that she suffers from mosaic Down syndrome. In this form of trisomy 21, the person concerned carries both so-called “normal” cells and cells with 47 chromosomes, which gave them a 50% chance of having children with an extra chromosome. A diagnosis experienced as a relief for Ashley: “I was very happy to know it” she explains in an Instagram post.
“People tell me: you don’t seem to be affected”
If the young woman wanted to tell her story, it was to make the general public aware of the different forms of trisomy 21. Indeed, she relates “People tell me: you don’t seem to be affected”. Indeed, the young mother does not have the facial characteristics of a person with Down syndrome. Through her Instagram account she wants to better inform about the disease and show that we can also have a good family life.