This mother has shared her journey after being diagnosed with mosaic down syndrome at 23-years-old.

In an exclusive interview, mother of three Ashley Zambell, from Michigan, revealed that after all three of her children had been diagnosed with down syndrome and she was concerned by the pattern. 

She attended genetic counselling and consulted with a geneticist who suspected she had mosaic down syndrome. 

Despite negative results from tests, which analyse chromosome abnormalities, the medical team remained convinced of her mosaic down syndrome due to her personal history of learning complications, health issues and her children's diagnoses.

To confirm their suspicion, Ashley underwent a buccal smear test, which confirmed that approximately 3% of the 400 collected cells showed the presence of an extra 21st chromosome. 

Armed with her diagnosis, she has been fervently sharing her journey and raising awareness about mosaic down syndrome, realising that many people are unfamiliar with this particular form of the condition.

Ashley said: “I actually had somebody tell me that I was lying and that I did not have down syndrome because I don't look 'down syndrome enough' and that kind of got to me a bit.

“It just shows that even people in the down syndrome community don't know as much as we think we do. So I try to just educate people and, you know, spread awareness.”

After being overwhelmed with negative comments questioning her condition, Ashley revealed that all she feels she can do is ‘show her test results’ to prove her diagnosis.

Through her social media platforms, she aims to inform and encourage more people, especially parents, to pursue genetic testing for their children, even if they appear typical. 

The stay-at-home mum emphasises the importance of thorough testing to avoid undiagnosed cases of mosaic down syndrome, which can have significant impacts, despite individuals not exhibiting obvious physical signs. 

While the extent to which the condition affects her as a mother is yet to be determined, Ashley recognises that her life experiences, including learning difficulties, health conditions, and low muscle tone, may be attributed to mosaic down syndrome.

She emphasises that a diagnosis, while initially alarming, should not define or limit individuals and their capabilities.