“My geneticist was shocked”: Mom Had Three Kids with Down Syndrome

What she found out about herself shocked everyone!

A TikTok creator named Ashley Zambelli, who is 23 years old, gained viral attention when she discovered something extraordinary about herself and her three children. Not only is she the mother of three, but she also shares a specific genetic mutation with all of them—trisomy 21, commonly known as Down syndrome. Zambelli documented her shocked reaction in a series of TikTok videos, which quickly gained popularity.

In one video, Zambelli wrote, “My geneticist was shocked that I’m having a baby with trisomy 21 for the third time.”

Throughout her videos, Zambelli shared that two of her children have tested positive for trisomy 21, and tragically, she experienced a pregnancy loss with her third baby, who also had the same genetic mutation. When her geneticist noticed the pattern of multiple babies with this particular mutation, Zambelli herself was encouraged to undergo testing.

Zambelli exclusively shared, “Finding out I was pregnant with another baby who has trisomy 21 was definitely a shock to all of us. It’s not unheard of to conceive one or two children with Down syndrome, as it is usually caused by a random failure of chromosome separation during mitosis. But having more than one or two? That’s when this may not be a ‘random’ mutation.”

Zambelli is the proud mother of three young girls: Lillian, Evelyn, and Katherine. While Lillian has trisomy 21, Evelyn does not. Zambelli expresses excitement about witnessing her daughters, both with and without Down syndrome, growing up together. She believes there is something special about having siblings with Down syndrome and is eager to see the person Evelyn becomes.

When asked about what prompted her to undergo genetic testing, Zambelli reveals that it was her OB/GYN who suggested the idea. “She informed me that conceiving a child with Down syndrome three times is quite rare and referred me to a geneticist to determine if I had a chromosomal abnormality.”

The test results revealed that Zambelli has mosaic Down syndrome, specifically trisomy 21 mosaicism/mosaic trisomy 21. This type of Down syndrome is diagnosed when there is a mixture of two types of cells—one with the usual 46 chromosomes and the other with 47, including the extra chromosome 21 that characterizes trisomy 21. Babies born with mosaic Down syndrome may exhibit similar features to those with regular Down syndrome, although it is also possible for them to have fewer distinct features.

Zambelli expresses happiness upon receiving the diagnosis, as it helps make sense of the various complications she has experienced throughout her life. Doctors had previously been unable to explain these complications.

Although her children are too young to comprehend their diagnoses, Zambelli has received overwhelming support from her friends and family. “My friends and family were surprised by my diagnosis…everyone was very happy for me and supportive.”

Through her TikTok videos, Zambelli aims to create an educational platform to raise awareness about this genetic mutation. She appreciates the TikTok community for their support in spreading awareness about the different forms of Down syndrome: trisomy 21, mosaic, and translocation. Zambelli presents the facts, spreads awareness, and hopes for positive change.

When reflecting on her journey, Zambelli reveals that encountering some individuals within the Down syndrome community has been challenging. Certain people have dismissed her condition and made her feel the need to prove herself. “Unfortunately, stigma surrounding Down syndrome exists even within our own community. I hope that will soon change for the better.”

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