A Down Syndrome Education

I remember having a conversation with my grandma (we call her Mah) many years ago, probably on one of the many afternoons I walked to her house to wait for mom to pick me up after school and hustle me off to swim practice. I didn’t know to cherish those times when I was just an awkward middle schooler in the worst plaid Catholic school uniform you can imagine (for the record, anyone who thinks Catholic school uniforms are sexy has never actually seen a real Catholic school uniform).

Now reflecting back, I struggle to remember her exact words on what were just simple chats between the two of us. It was rare for me to get alone time with her – I mentioned in a previous post that I am one of over thirty grandchildren and she loved us each in a unique way. Mah’s house was almost always abuzz with kids coming and going in between her working on projects for our little parochial school, making cookies for the inmates, baking casseroles for dinners, sewing the latest baby blanket for the next grandchild to be born, you get the idea. Anyways, for some reason this one conversation has stuck with me and I never knew why until now. I remember talking to her about our family, and I told her it was honestly amazing that our family didn’t have any major health ailments – no cancer, no history of high blood pressure or diabetes or any of the typically inherited issues, heck we didn’t even have a pair of twins to mention! I wish I could remember her exact response, but I imagine it was something like “oh darlin’, we are so blessed” and then she probably continued on with her task, humming along as she stuffed poppers for the next church bazaar or prepping meatloaf for the dinner. It was a simple response but she never took for granted her life’s and our family’s many blessings, and she meant what she said.

In the homily this week, the priest referred to his grandmother as his “faith mentor”, and I thought that is such a great way to describe my reflections on my memories with Mah. She was deeply faithful, but not blindly so. Her faith was formed and evident in her relationships, and was proven to me in physical form at her funeral, where the church was filled beyond capacity with those whose lives she touched. I wonder a lot what she would tell me as we approach our journey with Down syndrome, but maybe I don’t have to wonder. I’ve seen faith start to come to life in the relationships that have been already strengthened, deepened and formed in just the first few steps of this lifelong path. And since Mah was ALWAYS a proponent of Catholic education, I know she’d join me in a faith journey based on education and learning everything there is to know about Down syndrome.

At our only meeting with the genetic counselor, she jumped straight into statistics, our test results, next steps for us – it was a whirlwind of a day already, but (in my opinion) there wasn’t enough focus on the many possibilities in life our child will have. I’ll admit that prior to the past few months, my limited education on Down syndrome dated back to middle and high school biology, and I’m very much a study-to-the-test kind of person so there wasn’t even much absorbed there. Since that first meeting, I’ve spent countless hours reading about Down syndrome – everything from other parents’ stories to the latest findings for possible preventive measures and rhetoric on the morality of such ideas. In the spirit of Down syndrome Awareness Month, and to share a little bit of the education I’ve gotten, I thought I’d share a few facts I’ve come across that were either surprising or interesting to me…

• The chromosomal condition is technically called “Down syndrome” (as opposed to Down’s syndrome). The doctor John Langdon Down is considered to be the “father” of the syndrome after publishing a paper most accurately identifying it as a unique condition. [As an aside, I read on a mommy-forum recently that this common misnomer really bothers some people. It doesn’t bother me at all – just thought it was interesting since I, too, always thought it was the possessive form prior to our experience!]
• The actual cause of Down syndrome is still unknown. (This one is the most mind-blowing to me!) Down syndrome occurs at time of conception when a pair of chromosomes in the 21^st chromosome in either the sperm or the egg fails to separate. The third copy of the 21^st chromosome is then replicated throughout the body as cell division occurs. (read more here)
• Although Down syndrome is a genetic condition, it is very rarely inherited (only about 1% of cases). It is a chance occurrence, as mentioned above, at time of conception.
• Although the likelihood of having a child with Down syndrome increases with maternal age, most Ds children (around 80%) are born to mothers under the age of 35.
• There isn’t really a “spectrum” of cognitive ability with Down syndrome (some people compare it to the Autism spectrum, which isn’t accurate). Some have asked me if there is any way to know where our child will fall on the Down syndrome “spectrum”. While I wish there was a way to look into a crystal ball and tell our future, that would be similar to me asking my pregnant friends or friends with babies how smart they are (the babies, not my friends). There really isn’t any way of knowing where our babe will excel or struggle, no differently than a typical baby! [Another aside – a great way of referring to a typical 46-chromosome baby or person is just that – “typical”. It’s a preferred term over “normal”, since we’re definitely all at least a little bit crazy 😉 ]

On a final note, I am open to any questions! This is a learning experience for everyone, and y’all are this babe’s little village, so ask away. Full disclosure – I may use a Baringer fact* on you if you catch me in a pinch.

I also want to reiterate my sincere gratitude for the continued words of encouragement and love from everyone around us. I truly cannot say thank you enough. Every single note, comment, text touches my heart in a way you may never know. Your strength is my strength.

Happy Weekend!

*Baringer fact: (noun) 1. A statement made convincingly enough that it is understood to be factual, 2. Datum or fact referenced that may or may not be accurate