A mom of three kids recently found out that she has a specific genetic mutation that she went through 23 years of life not knowing. After being encouraged by her doctor to do some testing, the mom shared her story on social media where it went viral because of an unexpected twist.
Ashley Zambelli recently went viral after sharing her story on social media
According to People, Zambelli recalled visiting the doctor when she was pregnant with her third child.
Her first two kids were born with trisomy 21 — also known as Down syndrome.
And she learned that her third child would be born with Down syndrome, too
"My geneticist SHOCKED I'm having a baby with trisomy 21 for the 3rd time,” she shared in one of her videos on social media where she’s been keeping everyone up to date on her pregnancy.
"Finding out I was pregnant with another baby that has trisomy 21 was definitely a shock to all of us," Zambelli told People.
The proud mom has three children, two have tested positive for trisomy 21. Zambelli also experienced a pregnancy loss with a baby who also tested positive for the genetic mutation.
Her doctor thought something more could be going on
"It's not unheard of to conceive one to two since Down syndrome is, as far as we know, usually caused by a random failed separation of chromosomes during mitosis.”
However, she and her doctors though there was likely more to the genetic mutation because it no longer seemed “random.”
After speaking with her OBGYN, Zambelli decided to get a genetic test done on herself
She told People her doctor suggested the test. “She is the one who informed me that it's pretty rare to conceive a child with Down syndrome three times and wrote me a referral to a geneticist to see if I had a chromosomal abnormality.”
And in a plot twist she wasn’t expecting, the testing came back showing that she, too, has Down syndrome. More specifically she was diagnosed with mosaic Down syndrome, or trisomy 21 mosaicism/mosaic trisomy 21.
"When I got the call [with the diagnosis], I was happy! I've always had some miscellaneous complications throughout my life that never made sense to doctors, but now they do," Zambelli explained.
"My friends and family were very surprised with my diagnosis…everyone was very happy for me and supportive."
The proud mom is now using her TikTok as an educational platform to spread awareness about Down syndrome
"TikTok has been such an amazing community to be in for spreading awareness of Down syndrome and the three forms of it — trisomy 21, mosaic, and translocation," she said.
"All I can do is present the facts, keep spreading awareness, and hope to see a change."
