This fall, Lily walked into school, on her first day of kindergarten, next to her two brothers, and all of the other children. She said good-bye to me, and off she went with her giant backpack on her back, chatting with her twin brother, not even looking back. Come on, moms need hugs, blown kisses, and SO many pictures, on their kids’ first day of school.
There was a day when I was not sure what Lily’s first day of school would look like. You see, Lily has Down syndrome; mosaic Down syndrome, if we are being exact, and I had no clue what that meant for Lily, or our family. When we were in the thick of therapies, delays, and so many fears, my mantra became, “Lily will walk and Lily will talk, before she goes to kindergarten,” and she did.
How did we get here? It’s a crazy tale of infertility, twins, Down syndrome, and life.
Josh and Lily were born; these two could not have been more different! Josh was extremely fair and skinny. Then Lil with her black hair, she must have stolen all the food, because she was sooo cute and squishy; she also had a bigger head, curved fingers, and a webbed toe… “It’s nothing! She’s a twin! Webbed toes run in the family!” came the comments from the nurses and docs. I was nervous, something seemed different, but what did I know?
Four months later, after a lot of research (hello Google!) I came across a blog with a photograph of a little girl with Down syndrome, and it was as if I was looking at a photograph of Lily. It was then, that I knew my daughter had Down syndrome. Sure, it needed to be official, the tests were done and the wait began, but I knew. Then, when Lillian was 4.5 months old, she was officially diagnosed with mosaic Down syndrome.
What? Mosaic Down syndrome? What is that? It turns out that a small percentage of individuals with Down syndrome, about 1-2%, have a different form of Down syndrome, called mosaic Down syndrome. This happens when not all of the cells in the body have the duplication of the 21st chromosome, just some of them. So, some cells have the typical 46 chromosomes, and some have the bonus 47 chromosomes. The mosaicism, along with being a twin, are likely the reasons that Lily’s diagnosis was not picked up in prenatal testing, or at birth.
Lily has many of the same delays as others with Down syndrome; she has had therapies, so many therapies, to help her learn everything from walking to eating to talking. Lily’s therapists became an integral part of our lives; they were in our home almost every day to help Lily, and to help our family move Lily towards that first day of school, and towards an independent life. We are lucky, though, Lily also has a secret weapon, her twin brother, Josh. He was there to challenge her, steal her pacifier, teach her, and talk to her in their crazy twin-delayed-speech-language, and love her. Lily had to fight to keep up with him, and their older brother, Tyler. All of this, all of these people got Lily to her first day of kindergarten.
People wonder, I wonder, what mosaicism means for Lily as she grows older? Where will she fall in the spectrum of abilities? I don’t know. Then again, I don’t know where my two typical boys will fall either. Sure, research says, that those with mosaic Down syndrome may be ‘less affected’ (gah, I strongly dislike that phrase), than others with Down syndrome. Is that true for Lily? Perhaps? What I know, is that Lily is learning, she is growing and she is constantly progressing. She may not have met the typical developmental guidelines for milestones, and will likely have many more challenges in her life. What I do know is that Lily walked into her school a few months ago, ready to learn, ready to grow, and definitely ready to play on the playground.
So, this is Lily. She is a twin. She has Down syndrome. She has mosaic Down syndrome. She is a kindergartner. She is perfect.
About the Author: Sarah Hug lives in Baltimore County, with her husband Brian and three crazy kids, Tyler (8), Joshua (5) and Lillian (5). Her main focus may be parenting her three kids, including a daughter with Down syndrome, but she is also a mechanical engineer, a photographer, and she seriously longs for a good nap!
