A mother-of-three who was 23 when she was diagnosed with Down syndrome says people “don’t believe” she has the condition.
Ashley Zambelli was diagnosed with mosaic Down syndrome in February 2023 after undergoing genetic testing which revealed she has an extra chromosome.
WATCH THE VIDEO ABOVE: Ashely reveals all about her own Down syndrome diagnosis, aged 23.
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Growing up, Zambelli says she would struggle with knee dislocation, issues with her jaw, and a high heart rate.
Doctors never connected the issues until they looked at her reproductive history and saw three of her pregnancies had a Down syndrome diagnosis.
Ashley Zambelli with Katherine, Evelyn, husband Taylor and Lillian. Credit: Ashley Zambelli/SWNS
According to Better Health, mosaic Down syndrome occurs in 1 per cent to 2 per cent of people with Down syndrome and “can result in a milder level of intellectual disability and less obvious physical characteristics than the other forms of Down syndrome”.
Zambelli, from Michigan, US, said: “People say ‘You don’t look like you have it.’ They don’t believe it.
“Even I was in a lot of disbelief. I didn’t know about mosaic Down syndrome. A lot of people associate it as a facial disability.
“Having a mosaic condition means it is not always visible to the eye.”
When Zambelli was born she didn’t have any traits or characteristics associated with Down syndrome, she said.
But from the age of 12, her knee caps would dislocate and she struggled with learning at school, she said.
“Test-taking was awful,” she said.
“I had jaw disfunction and my knee caps were constantly dislocating.
“My shoulder was permanently out of the socket.
“My heart was always racing. I was always getting out of breath.”