I heard an absolutely fascinating story today of a mother and a baby and Down syndrome. It was NOT one of those “a friend of a friend of a friend” kind of things. The story-teller relayed this story to me about her family member because I’m the Mom of 2 boys with Down syndrome. And, honestly, this story has rocked me to the very core and changed my concept of true acceptance and advocacy.
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A 23-year-old woman gave birth to her first child. Shortly after birth, her newborn baby was diagnosed with Down syndrome. Questioning the doctors about whether this might happen again, she was told that the occurrence of Down syndrome is merely an accident. A mistake in the over replication of the 21st chromosome. She and her husband were advised that their risk for having another child with Down syndrome was no greater than for anyone else and, because of her young age, they should not worry about the unlikely recurrence. Shortly thereafter, they conceived their second child.
Sadly, the second pregnancy ended in a miscarriage. After examination, it was determined that the unborn fetus also had Down syndrome. The mother was referred to a geneticist where it was discovered that all of the cells in her womb — ovaries, uterus, fallopian tubes, eggs etc. — carried 47 chromosomes instead of the usual 46. At the age of 25, this mother was diagnosed with Mosaic Down syndrome.
Did I hear a collective gasp… Or was that just me? AMAZING story, right? Extending it’s meaning: where there is one, there are others. How many of us might be walking around with a little extra chromosomal material here and there?
The impact of mosaic DS on her development was obviously minor. After the diagnosis, several of what she thought of as just her quirky little characteristics suddenly made sense. She has the space between her big toe and the next. She has small ears and narrow ear canals. She has the simian crease in one hand. These are all things that are relatively common in the DS population — but they can also occur in the non-DS population so no one thought anything of it. Otherwise, her development, her education and her life were completely “typical”.
Can you imagine finding out at whatever age you are now, that YOU have Down syndrome? How would you react? Would you hide it from people? Or, would you tell the world? Would you embrace the information and make it part of you? Or, would you mourn the loss of your typical self? How do you think your spouse would react to your new diagnosis? How do you think your boss might react? Would this news change the way you see yourself? Would it change the way you see others with Down syndrome? Would it change the way others see you? Would these mind-shifts be for the better or for the worse?
Is this one of those faulty “it’s fine if it happens to you but not if it happens to me” thought processes? Is it OK for your child to have Down syndrome but not OK for you to have it?
I have been pondering this happenstance all day. What an amazing thing to discover. What an opportunity to change the way the world sees people with Down syndrome! What an incredible epiphany for me, to imagine that I, my spouse, my mother, boss or neighbor might have Down syndrome and we just don’t know it. To contemplate that absolutely any one of us could be carrying a little extra something in our genes without knowing it just levels the playing field for me! As an advocate for my children and for all people with Down syndrome, I not only accept whole-heartedly but I embrace the fact that my children have Down syndrome. I also believe that I’d be OK with finding out that I have Down syndrome. As a matter of fact, I’d likely rush the podium and scream it out for the whole world to hear, “YES, I have Down syndrome and, TRULY, we are all more alike than different.”
Think about it… I mean really give this some thought. Could you accept a diagnosis of Down syndrome for yourself?