A mum who was diagnosed with Down's syndrome aged 23 says people "don’t believe" she has the condition.<br /><br />Ashley Zambelli was diagnosed with mosaic Down's syndrome in February 2023 after undergoing genetic testing which revealed she has an extra chromosome.<br /><br />Growing up, Ashley says she would struggle with knee dislocation, jaw issues affecting her movement of it, and a high heart rate.<br /><br />Doctors never connected the issues until they looked at her reproductive history and saw three of her six pregnancies had a Down's syndrome diagnosis.<br /><br />This was unusual for someone so young, she said.<br /><br />They carried out genetic tests and discovered she had mosaic Down's syndrome.<br /><br />Ashley, a stay-at-home mum, from Macomb Township, Michigan, US, said: “People say 'you don’t look like you have it'.<br /><br />“Even I was in a lot of disbelief.<br /><br />“I didn’t know about mosaic Down syndrome.<br /><br />“A lot of people associate it as a facial disability.<br /><br />“Having a mosaic condition means it is not always visible to the eye.”<br /><br />When Ashley she was born she didn’t have any traits or characteristics associated with Down's syndrome, she said.<br /><br />From the age of 12 her knee caps would dislocate “all the time” and she struggled with comprehensive learning at school, she said.<br /><br />She said: “Test taking was awful.<br /><br />“I had jaw disfunction and my knee caps were constantly dislocating.<br /><br />“My shoulder was permanently out of the socket.<br /><br />“My heart always racing. I was always getting out of breath.”<br /><br />Doctors were never able to connect her health issues until she was 23 weeks pregnant with her third child, Katherine, in February 2023 – who was diagnosed with Down's syndrome at 14 weeks.<br /><br />Ashley had previously had a miscarriage in 2019 and doctors had discovered the baby had Down's syndrome.<br /><br />She gave birth to her first child, Lilian, two, who also has Down's syndrome, in December 2020. <br /><br />Her second daughter, Evelyn, one, who was born in December 2021 doesn’t have the genetic condition.<br /><br />Ashley said: “They hadn’t seen someone with three confirmed cases of Down syndrome.<br /><br />“They said I was really young - so thought there must be something else causing this.”<br /><br />Ashley had genetic testing which revealed she had mosaic Down's syndrome – giving her a 50 per cent chance of having children with an extra chromosome.<br /><br />She said: “I was very happy to find out.”<br /><br />Her husband, Taylor Doyle, 28, a restaurant worker, was supportive of Ashley getting the genetic testing.<br /><br />Ashley - who doesn’t have the facial characteristics of someone with Down's syndrome - now has an explanation for her problems. <br /><br />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.<br /><br />Ashley said she often struggles to understand most humour and can say things without realising they might be offensive.<br /><br />Ashley wants to encourage others to get genetic testing and see it as a “tool to be prepared”.<br /><br />She said: “People need to not see genetic testing as a bad thing.
