Ashley Zambelli, from Michigan, was 23 weeks pregnant with her third child when she went in for an ultrasound. Concerned about the baby’s health, especially after a previous miscarriage and having one daughter with a rare genetic disorder, Ashley was understandably anxious. To address these concerns, doctors recommended that Ashley undergo a genetic test. The results were astonishing. Ashley herself has 47 chromosomes, with an extra chromosome on the 21st pair, a condition known as Down syndrome. This condition is typically diagnosed in unborn babies through screening for specific fetal features and blood tests for biochemical markers.

In some cases, Down syndrome is diagnosed at birth if not detected during pregnancy. People with this condition often have distinct physical features, intellectual disabilities, and require social support into adulthood. However, Ashley’s condition had gone undiagnosed through her childhood despite health and cognitive challenges. Ashley’s form of Down syndrome is extremely rare, affecting only 2% of people with trisomy 21. This variant often presents fewer health issues and mild cognitive impairments, which might explain why her condition was overlooked. Despite difficulties in school, low muscle tone, and a minor heart defect, Ashley’s appearance did not align with typical Down syndrome characteristics.

Remarkably, Ashley’s diagnosis came as an adult, making her a unique case. She lives a full life as a mother and homemaker, managing her children’s needs and daily household tasks. Her main concerns are low muscle tone and knee problems. Although her cognitive abilities are below average, she functions within the normal range, with some issues in short-term memory and understanding humor.

Ashley’s first daughter, Lillian, was born with Down syndrome, with more pronounced symptoms. Her second daughter, Evelyn, is healthy. Her third pregnancy ended in a miscarriage due to a genetic disorder. During her fourth pregnancy, she learned her baby would have Down syndrome but chose to continue. Ashley’s husband, Taylor, remains supportive and loving, unaffected by her diagnosis. He adores their daughters regardless of their conditions. Despite a 50% chance of passing Down syndrome to their future children, the couple is considering having a fourth child.