An American woman found out that she had Down syndrome only at the age of 23: what she looks like and what were the signs of the pathology
American Ashley Zambelli from Michigan was diagnosed with Down syndrome only at the age of 23. She did not have any obvious symptoms characteristic of the disease.
Today, Zambelli actively shares her life story on Instagram. She tells people about her unusual case and warns about some signs that may indicate a diagnosis, Bright Side writes.
Ashley Zambelli as a child and now.
Source: Instagram @ashley_zambelli
Ashley's special condition was confirmed in February 2023 after she underwent a genetic test. It turned out that the woman has an extra chromosome.
Ashley Zambelli as a child and now.
Source: Instagram @ashley_zambelli
The American woman has a rare form of Down syndrome that affects only 2% of patients. The woman said that as a child, she sometimes had difficulty learning and had problems with her knees and jaw, which affected her ability to move.
Ashley with her daughter Lillian.
Source: Instagram @ashley_zambelli
However, doctors never linked these symptoms to a diagnosis until she became a mother: Zambelli's first daughter was born with Down syndrome. She noted that people usually associate the disease with a unique appearance, but it turns out that this is not the most important feature. In Ashley's case, it is called "mosaic Down syndrome".
The woman has mosaic Down syndrome.
Source: Instagram @ashley_zambelli
Zambelli said that she generally did not have any warning signs of the condition at an early age. But after she turned 12, she began to experience problems with her kneecaps and learning. "My test scores were terrible. I had jaw dysfunction and my kneecaps were constantly dislocated. My shoulder was permanently out of alignment. My heart was beating hard. I was suffocating," she recalls.
Ashley's two daughters.
Source: Instagram @ashley_zambelli
In 2019, the American woman also suffered a miscarriage, and doctors discovered that the unborn child had Down syndrome. Later, the woman gave birth to her first daughter, Lillian, who also has the condition. Her second daughter, Evelyn, was born healthy.
She had not noticed any symptoms of the disease before.
Source: Instagram @ashley_zambelli
After undergoing genetic testing, Ashley found answers to her questions. The American woman had symptoms such as drooping ears, memory problems, and low muscle tone. The woman added that it is also difficult for her to understand humor and be tactful because she does not control her rudeness.
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