I found out I had Down’s syndrome aged 23 after ignoring subtle signs for years – people don’t believe me

A mother diagnosed with Down syndrome at the age of 23 says people “don’t believe” she has the condition.

Ashley Zambelli discovered she had Mosaic Down Syndrome in February 2023 after a genetic test revealed she had an extra chromosome.

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Growing up, she says she struggled with a dislocated knee, jaw problems that affected her movements, and a high heart rate.

Doctors didn’t put the problems into context until they examined her reproductive history.

They noted that three of their six pregnancies were diagnosed with Down syndrome, which is unusual for someone so young, Ashley said.

Doctors then performed genetic testing and found that she had mosaic Down syndrome, or mosaicism — a rare condition that results in an extra copy of chromosome 21.

Ashley, a homemaker from Macomb Township in Michigan, USA, said: “People say, ‘You don’t look like you have it.'”

“Even I was very incredulous. I didn’t know it existed.

“Many people associate it with a facial disability, but having a mosaic disease means it’s not always visible to the eye.”

When Ashley was born, she had no traits associated with Down syndrome, she said.

But from the age of 12, her kneecaps “constantly” slipped and she had problems with comprehensive learning at school.

“The test administration was terrible,” she said.

“I had jaw dysfunction, my kneecaps were constantly dislocated and my shoulder was permanently out of socket.”

“Besides, my heart was always racing. I was constantly out of breath.”

It took her until she was 23 weeks pregnant with her third child, Katherine, who was diagnosed at 14 weeks, to see the connection.

Ashley had suffered a miscarriage back in 2019 and doctors had determined the baby had Down Syndrome.

In December 2020, she gave birth to her first child, Lilian, two, who also has Down syndrome.

Their second daughter, Evelyn, who was born in December 2021, does not have this genetic condition.

Ashley said: “They hadn’t seen anyone with three confirmed cases of Down syndrome.

“They said I was very young — so they figured there must be something else.”

Her mosaic Down syndrome gives her a 50 percent chance of having children with an extra chromosome.

Ashley said, “I was very happy to find out.”

The mother-of-three, who doesn’t have the facial features of a person with Down syndrome, now has an explanation for her troubles.

She has deep-set ears, low muscle tone, a jaw disorder, short-term memory problems, and inappropriate sinus tachycardia — meaning she often has a heart rate in excess of a hundred beats per minute.

She said she often finds it difficult to pick up on most humor and is able to say things without realizing they might be offensive.

Ashley, who lives with her husband Taylor Doyle, 28, a restaurant worker, wants to encourage others to get genetically tested.

She said, “People mustn’t see it as a bad thing.”

“It’s a tool to be prepared.”

She also hopes to create a community for people with mosaic Down Syndrome.

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