For 23-year-old Ashley, the discovery of her diagnosis of Down syndrome added a new layer of complexity to her role as a parent. After having three children with Down syndrome, she learned she shared the same condition. This revelation led her on a path of self-discovery, acceptance, and empowerment. Now she’s spreading awareness to other moms and sharing signs to watch out for.
It raised concern when all her babies tested positive
As a mother of three, Ashley Zambelli faced an unexpected reality when she discovered that two of her children had tested positive for trisomy 21. Even more astonishing was that she had also experienced a pregnancy loss with a baby with the same genetic mutation. These events prompted Zambelli to seek answers and understand the unique genetic connection within her family.
Genetic testing and Mosaic Down syndrome
After consulting with her OB/GYN, Zambelli decided to undergo genetic testing. The results returned positive for mosaic Down syndrome and trisomy 21 mosaicism.
This form of Down syndrome occurs when there is a mixture of two types of cells: some with the usual 46 chromosomes and others with an extra chromosome 21. Mosaic Down syndrome can result in babies sharing some features with those with Down syndrome, but having fewer distinct characteristics is possible.
Raising awareness and facing the challenges
Ashley welcomed her third daughter in April, who also suffers from Down syndrome. Now caring for three kids with the same condition, she uses her platform to raise awareness. Receiving her diagnosis brought a sense of clarity and understanding to Zambelli’s life. It explained the various complications she had experienced.
Through her TikTok videos, the momma has transformed her platform into an educational space for raising awareness about Down syndrome and its different forms. She focuses on trisomy 21, mosaic Down syndrome, and translocation.
Like Ashley, another mom with Down syndrome is raising her kid with Down syndrome. In fact, she’s doing it as a single mother. You can read about her story here.
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