Ashley Zambelli is going viral with her story on TikTok. The young woman has three daughters and two of them have Down syndrome, also known as trisomy 21. She also lost a fourth child during pregnancy who was also diagnosed with Down syndrome.
It is generally believed that Down syndrome is not hereditary, but Zambelli underwent some genetic testing on the advice of several doctors. The results showed that she actually had a form of Down syndrome herself. Neither Zambelli nor those around her had ever noticed the known symptoms.
The young woman has been struggling with medical problems for several years. She has lower-set ears, low muscle tone, a jaw abnormality, short-term memory problems, and a heart rate greater than 100 beats per minute. Doctors never linked these problems until they looked at her reproductive history.
The genetic tests showed that the young woman has a mosaic form of Down syndrome that occurs in only 1 to 2 percent of patients. As a result, Zambelli has little to no external or characteristic features. This form has an error in a gene – an extra chromosome 21 – in part of the cells and not in all cells as in the classic form. As a result, you sometimes get fewer or less severe symptoms of the disease. A small proportion of people with Down syndrome have a mosaic of cells with the normal number of chromosomes (46), and other cells with an extra chromosome 21 (47). People with mosaic Down syndrome often develop better than people who have the extra chromosome 21 in all cells, the classic form of Down. “I was really happy when I found out,” says Ashley. She now finally has an explanation for her medical problems that doctors never understood.
Zambelli hopes to create a community for people with mosaic Down syndrome through her social media channels. “People shouldn’t see genetic testing as a bad thing. It is a tool to be prepared,” she adds.