23-year-old TikTok creator Ashley Zambelli, who is also a mom to three children, discovered that she has Down syndrome, after having a third baby with trisomy 21 — also known as Down syndrome. Her videos sharing the same have gone viral on the social media platform.
In one video, Zambelli writes, "My geneticist SHOCKED I'm having a baby with trisomy 21 for the 3rd time."
Zambelli has three girls – Lillian, Evelyn, and Katherine. Lillian and Katherine have tested positive for trisomy 21. She had also experienced a pregnancy loss with a third baby who also tested positive for the mutation.
It was after having so many babies with this specific genetic mutation that Zambelli’s OB/GYN suggested she get tested too. "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," Zambelli told People Magazine.
Zambelli’s tests came back positive for 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 shared.
Her friends and family are supportive of Zambelli. "My friends and family were very surprised with my diagnosis...everyone was very happy for me and supportive."
As for raising kids with Down syndrome, she said, "Our oldest daughter Lillian has trisomy 21 and we can't wait to see [her and her sibling] grow up together, including our second daughter, Evelyn, who does not have Down syndrome. We are also very excited to see the person Evelyn grows to become since there's just something special about having siblings with Down syndrome."
In her TikTok videos, Zambelli strives to spread awareness about the genetic mutation. "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. All I can do is present the facts, keep spreading awareness, and hope to see a change," she said.
