Woman diagnosed with Down syndrome at the age of 23

A woman who was told she had Down syndrome after five pregnancies, reveals why the diagnosis made her 'happy'.

Ashley Zambelli, a mother-of-four, says her journey to finding out who she is, began with her gynaecologist at age 23.

She revealed that after her third child was diagnosed with Down syndrome, ‘alarm bells’ started ringing.

After falling pregnant and suffering a missed miscarriage and an emergency D&C procedure (in which the uterine lining is scraped) in 2019, she was told the baby was a boy and tested positive for Trisomy 21, the genetic profile for Down syndrome.

Then, when Ashley fell pregnant again, her daughter named Lillian tested positive, and so did her fourth, Katherine.

With many of her pregnancies leading to a positive identification of Trisomy 21, Ashley said her gyno was concerned by the high percentage of positive tests.

But Ashely, from Michigan, just thought she had 'a higher chance than others, as not all of our kids tested positive.'

She told Metro: "But the third time it happened with Katherine, alarm bells started ringing for my OBGYN, as she’d never had a patient with that many positive results before."

However, because of her history, she was referred to a genetic counsellor, who ran several blood tests and while that failed to see anything different, a mouth swab determined that she herself had a form of Down syndrome which accounts for two percent of all cases, per the National Down Syndrome Society.

This is known as Mosaic Down syndrome, which is when some cells have the presence of an extra chromosome 21, while others have the standard 46 chromosome.

"I was at the hospital with my daughter Lillian when I found out,’ the 26-year-old said. "She was having some tests done, and I got off the phone just as a nurse was coming in, and I was so happy."

The reason was because she was finally given the answer to her questions.

"I’ve never seen so much concern on somebody’s face. She didn’t understand why I was so pleased to have been diagnosed with Down syndrome," said Ashley. "I struggled to explain it to her, but I was just so glad to finally have an answer."

Now, she says this has helped her with her bond to her children.

She told the outlet: "I almost feel like I can understand more of what they are going through and how their brain processes things — it takes me longer to process things too, so I can just relate with them a little better."

But it hasn't been all positive, as she says she's come up against people who she claims told her she doesn't have 'real' Down syndrome because she doesn't display the characteristic phenotypes.

"The only thing I have is that my ears are smaller and they sit a little lower, but nobody ever sees my ears," said the mum.

As for her health, she has struggled with an abnormally high heart rate, dislocating joints, and difficulties at school.

"Doctors knew something was going on with me; they just didn’t know what," she said, revealing she had chalked it down to potentially having Lupus like her father.

But that wasn't the case.