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.
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.”
Doctors were never able to connect her health issues or give her a firm diagnosis until she was 23 weeks pregnant in February 2023 with her third child, Katherine, who was diagnosed with Down syndrome at 14 weeks.
Zambelli also had a miscarriage in 2019 and doctors discovered the baby had Down syndrome.
She gave birth to her first child, Lilian, now two, who also has Down syndrome, in December 2020.
Her second daughter, Evelyn, 1, who was born in December 2021 doesn’t have the genetic condition.
“They hadn’t seen someone with three confirmed cases of Down syndrome,” Zambelli said.
“They said I was really young (and) so there must be something else causing this.”
Zambelli’s diagnosis means she has a 50 per cent chance of having children with an extra chromosome.
She said she was relieved to discover there was an explanation for her health issues.
Zambelli now understands why she has lower sitting ears, low muscle tone, a jaw disorder, trouble with short-term memory, and inappropriate sinus tachycardia — meaning she often has a heart rate higher than hundred beats per minute.
She said she often struggles to understand humour and can say things without realising they might be offensive.
She now wants to encourage others to get genetic testing if they have similar symptoms and plans to create a community for people with mosaic Down syndrome.
“People need to not see genetic testing as a bad thing,” she said.
“It’s a tool to be prepared.”
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