A disease that shocked even the doctors was found in a 23-year-old woman

American woman learned about a rare form of Down syndrome only at age 23 - the diagnosis surprised even specialists

As reported by BAKU.WS with reference to Metro, US resident Ashley Zambelli had no idea for many years about a rare genetic condition that was only identified in adulthood. The unusual diagnosis came as a surprise not only to the woman herself but also to medical professionals.

According to the American woman, since childhood she faced a number of health issues, including rapid heartbeat, a tendency for joint dislocations, and learning difficulties. However, she did not exhibit the characteristic physical features typically associated with Down syndrome, so specialists did not consider that possibility.

The situation changed after Zambelli's three children received positive screening results for Down syndrome. This fact raised questions among doctors and prompted additional diagnostic testing of the woman herself.

As a result of the examination, Ashley was found to have mosaic Down syndrome - a rare condition in which the extra chromosome is present in only some of the body's cells. According to foreign experts, this form of the condition can remain undetected for a long time due to the absence of typical physical features and less pronounced symptoms.

"I was very happy when I received this diagnosis because I finally found answers," Zambelli said.

The woman noted that her gynecologist's persistence played a key role in establishing the diagnosis, as the doctor was alarmed by the results of her children's tests.

Today, Ashley actively shares her story on social media and strives to raise awareness about mosaic Down syndrome. According to her, many people, including some doctors, are insufficiently aware of this condition, which is why patients often face doubt and misunderstanding.