![\"Ashley](\"https:\/\/www.europesays.com\/uk\/wp-content\/uploads\/2026\/05\/IMG_5995-90fe-e1779297753280.jpeg\")
\n\t\tThe mum-of-four is regularly told she \u2018doesn\u2019t look like she has Down\u2019s syndrome\u2019 (Picture: Ashley Zambelli)<\/p>\n
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\n\t\tThe mum-of-four is regularly told she \u2018doesn\u2019t look like she has Down\u2019s syndrome\u2019 (Picture: Ashley Zambelli)<\/p>\n
After her third child was diagnosed with Down\u2019s syndrome, Ashley Zambelli says \u2018alarm bells\u2019 started ringing.<\/p>\n
She\u2019d assumed it was a coincidence that her first two pregnancies had tested positive for the condition, but after the birth of her daughter, medics weren\u2019t so sure.<\/p>\n
Ashley, then 23, had been in and out of doctors\u2019 surgeries since she was a child \u2014 her long list of ailments included an abnormally high heart rate, dislocating joints and difficulties at school<\/a>.<\/p>\n \u2018I found school difficult,\u2019 the 26-year-old tells Metro.<\/strong> \u2018It took me a lot longer to learn to read, and I struggled to do homework.<\/p>\n \u2018I never managed to finish tests as I couldn\u2019t answer the questions in time, so I often failed.<\/p>\n \u2018Doctors knew something was going on with me, they just didn\u2019t know what.<\/p>\n \t\t \u2018As I got older, they thought I might have Lupus<\/a>, because my father had it, but when that diagnosis fell apart, the doctors just stopped looking.\u2019<\/p>\n It wasn\u2019t until she fell pregnant<\/a> with her daughter, Katherine, now three, in 2023 that \u2018alarm bells\u2019 finally started ringing, and she received a surprising diagnosis.\u00a0<\/p>\n At the age of 23, Ashley, who lives in Macomb, Michigan, USA<\/a>, discovered she had Trisomy 21, more commonly known as Down\u2019s syndrome.<\/a><\/p>\n The mum-of-four was diagnosed with a rare form of the genetic condition, known as Mosaic Down\u2019s syndrome. This means that only some of her cells have an extra chromosome, not all of them.<\/p>\n \u2018I have a low-level mosaicism of Trisomy 21 in up to 20% of my cells,\u2019 Ashley explains.<\/p>\n Currently, Mosaic Down\u2019s syndrome accounts for about 2% of all Down\u2019s syndrome cases, but the actual percentage of those with the condition could be higher, as many cases go undiagnosed.<\/p>\n Research suggests that those with Mosaic Down\u2019s syndrome may have fewer characteristics of the condition than those with other types. However, as people with Down\u2019s syndrome can display a broad range of abilities and characteristics, broader generalisations can\u2019t be made.<\/p>\n For Ashley, she says she only felt \u2018relief\u2019 when she got the news.\u00a0<\/p>\n \u2018I was so happy when they gave me that diagnosis \u2014 it was finally an answer that I could add to my medical chart and use it to get the help I needed.\u2019<\/p>\n In Ashley\u2019s case, the condition was only discovered due to a hunch her gynaecologist had, after seeing test results for three of her pregnancies.<\/p>\n Her first pregnancy in 2019 tragically ended in a missed miscarriage and an emergency D&C procedure (where the uterine lining is carefully scraped) to remove remaining tissue from the uterus.<\/p>\n \u2018The protocol at the hospital was to do a genetic test on the tissue after a D&C, and that came up saying it was a boy, and he had Down\u2019s syndrome,\u2019 Ashley recalls.\u00a0<\/p>\n When Ashley fell pregnant again, her second baby, a daughter named Lillian, who is now five, also tested positive for Trisomy 21, as did her fourth child, Katherine.\u00a0\u00a0<\/p>\n Ashley says that she was so happy to have given birth to a healthy baby that she quickly accepted Lillian\u2019s diagnosis.<\/p>\n \u2018It\u2019s common \u2014 everyone who has a baby has a small chance of having a child with Down\u2019s syndrome,\u2019 she says. <\/p>\n \u2018My husband, Taylor, and I just thought that we must have a higher chance than others, as not all of our kids tested positive.\u00a0<\/p>\n \u2018But the third time it happened with Katherine, alarm bells started ringing for my OBGYN, as she\u2019d never had a patient with that many positive results before.\u2019<\/p>\n \t\t Ashley\u2019s doctor referred the mum to a genetic counsellor, who ran several blood tests.\u00a0<\/p>\n \u2018The results said I didn\u2019t have any genetic abnormalities, but the counsellor wasn\u2019t convinced.\u00a0She ended up doing a buccal smear test, which is where they swab inside your cheek and mouth to test tissue.\u2019<\/p>\n This finally provided the answer Ashley had spent years searching for, and a few days later, she was diagnosed with Mosaic Down\u2019s syndrome.<\/p>\n \u2018I was at the hospital with my daughter Lillian when I found out,\u2019 the 26-year-old recalls. \u2018She was having some tests done, and I got off the phone<\/a> just as a nurse was coming in, and I was so happy.<\/p>\n \u2018I\u2019ve never seen so much concern on somebody\u2019s face. She didn\u2019t understand why I was so pleased to have been diagnosed with Down\u2019s syndrome.\u00a0<\/p>\n \u2018I struggled to explain it to her, but I was just so glad to finally have an answer.\u2019<\/p>\n The mum claims the diagnosis has deepened the bond she has with her children with Down\u2019s syndrome.<\/p>\n \u2018I almost feel like I can understand more of what they are going through and how their brain processes things \u2014 it takes me longer to process things too, so I can just relate with them a little better.\u2019<\/p>\n \t\t However, there has been one major downside to getting the diagnosis, as Ashley claims it\u2019s made some aspects of healthcare trickier.<\/p>\n \u2018It\u2019s been harder than I thought to get help for some of the symptoms I\u2019m experiencing, because now everything is just chalked up to my diagnosis. Everything is blamed on Mosaic Down\u2019s syndrome,\u2019 she says.<\/p>\n \u2018Some doctors also completely brush me off and don\u2019t believe I have Down\u2019s syndrome.\u00a0<\/p>\n \u2018I\u2019ve had people tell me I don\u2019t have \u201creal\u201d Down\u2019s syndrome, and that I don\u2019t look \u201cDown\u2019s syndrome enough\u201d because I don\u2019t have any of the phenotypes of the condition.\u00a0<\/p>\n \u2018The only thing I have is that my ears are smaller and they sit a little lower, but nobody ever sees my ears.\u2019<\/p>\n The mum, who has started posting content online to raise awareness of Mosaic Down\u2019s syndrome, also claims to have noticed a real lack of medical knowledge around her condition, which doesn\u2019t help.<\/p>\n \u2018I get messages all the time on TikTok<\/a> and Instagram<\/a> from doctors and nurses who tell me they didn\u2019t know about it at all,\u2019 she says.<\/p>\n \u2018The main doctor I see for checkups wasn\u2019t even aware that Mosaic Down\u2019s syndrome was a thing.\u2019<\/p>\n Seemingly, there\u2019s so little information out there on the topic that biology professors have started using Ashley\u2019s social media<\/a> content in their lessons.<\/p>\n \u2018I feel honoured, but I can\u2019t believe people are watching my videos in classes. <\/p>\n \u2018I\u2019m not a doctor, I don\u2019t have a degree in science or biology, I\u2019m just sharing my own experience.\u2019<\/p>\n She adds: \u2018But I do really appreciate that they believe me and use me as an example \u2013 it\u2019s cool, but weird.\u2019<\/p>\n Do you have a story to share?<\/strong><\/p>\n Get in touch by emailing MetroLifestyleTeam@Metro.co.uk<\/a>.<\/strong><\/p>\n Arrow Arrow Arrow![\"Ashley](\"https:\/\/www.europesays.com\/uk\/wp-content\/uploads\/2026\/05\/59bc6daf-930a-440f-8f3f-a160918011bb-ed6b-e1779298115462.jpg\")
\n\t\tThe 26-year-old has been experiencing health issues since childhood (Picture: Ashley Zambelli)<\/p>\n![\"Ashley](\"https:\/\/www.europesays.com\/uk\/wp-content\/uploads\/2026\/05\/f7629065-14bd-446e-b459-59f4b7ae8b1e-d183.jpg\")
\n\t\tAshley and her husband, Taylor (Picture: Ashley Zambelli)<\/p>\n![\"All](\"https:\/\/www.europesays.com\/uk\/wp-content\/uploads\/2026\/05\/IMG_5400-8fd3.jpeg\")
\n\t\tAshley and Taylor have four children (L-R) Evelyn, 4, Katherine, 3, Damian, 2, and Lillian, 5 (Picture: Ashley Zambelli)<\/p>\n
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