Today we received a difficult phone call.
Down syndrome is caused by a third full copy of the 21st chromosome. That is why it is sometimes called Trisomy 21. Of all the people in the world with Down syndrome, 96% have a completely random form caused by a third 21st.
3% have what is called sporadic translocation Down syndrome. It’s still a third 21st chromosome, but it’s in a different place. And it’s random.
1% have a familial translocation. My Rowenna is in this 1%
Talk about beating the odds, right? Down syndrome in any form only occurs in about 1 in 800 live births. And my baby girl is part of an even smaller group – that 1%.
That’s what we learned today, that Rowenna has a familial translocation. We also learned that I’m the carrier. I have an atypical genetic make-up, and when my genes went to form Rowenna, she ended up with Down syndrome.
My momma heart is broken, for Rowenna and for myself. Everyone wants to reassure me by saying things like “but Down syndrome is random! It’s not your fault!” I no longer fall into that category. For us, Down syndrome was NOT random. I passed it down to my baby. I passed it down to her just like I gave her my blue eyes.
I wish I could hide behind the random and not take on any blame for this. I wish I could hide behind the random and blissfully enter another pregnancy one day, but that just isn’t what is in store for us. There are statistics I could share here but they’re somewhat confusing and mostly disheartening.
And on top of it all, this news makes me wonder if I have accepted Rowenna’s diagnosis after all. If I would hesitate to have another baby with Down syndrome, what does that say about Rowenna? Do I not love her like I think I do? Am I really ok with who she is?
I offer this up tonight, into the great unknown of the internet, because I need it out. I need it out of my heart and into writing and out into the world. I need to know I’m not alone in this and the only way to find out is to put it out there.
I wish I had something wise to say about it. I wish I had something uplifting to say. Even prayer falls short tonight.