A few weeks before her second birthday, we received the test results confirming our daughter Greta has a rare form of Down syndrome called Mosaicism. Only 2-3% of individuals with Down syndrome are believed to have this Mosaic form. Mosaicism means a person has two or more types of cells that differ in their genetic make-up. In Greta’s case, tests showed she has a small percentage of cells with the additional chromosome 21, while the other cells have the typical number of 46 chromosomes.
As with all children, number of chromosomes notwithstanding, we don’t know where her future strengths will lie or what additional help she may or may not need. As with her older brothers, we will continue to do all we can to help her to reach her potential and ensure she knows she is loved. We will not place limits on her and will support her to continue to find joy in her connection to her community.
Greta has a fan club wherever she goes and I can see that her presence within our community has and will continue to challenge stereotypes of what it means to live with a disability. While I worry about the missed early intervention opportunities, the timing of her diagnosis has meant that everyone has been able to get to know Greta without any preconceptions about her disability.
And we’ve been warmly welcomed into a new community. When I first reached out to Down Syndrome Victoria the day after the diagnosis, I wondered how this rare diagnosis might be viewed. ‘Don’t worry’, the support worker assured me, ‘you’re still part of the family.’