It's 11:54 p.m. on Friday night. Hope is conked out in Joel's arms after her nightly bottle and I have six minutes to quickly spread the world about CdLS Awareness Day, which is today, before it's over. I feel terrible I didn't get to it sooner. So much for staying on top of the blog. How do you regular bloggers do it?
The truth is I wish every day was CdLS Awareness Day. I wish I could spread the word so much that I wouldn't have to tell people every day why Hope is so small, why she wears hearing aids or isn't anywhere near walking on her own at 18 months old (though she can make a mad dash in her walker). I wish thousands of children, often on the more mild end of the syndrome's spectrum, wouldn't go undiagnosed, missing out on vital services and resources that a diagnosis could provide. I wish one day everyone would just know.
But we're not there yet. And I'm not sure we ever will be. Until then, that's why days like today are so important. If you didn't know, CdLS, or Cornelia de Lange Syndrome as it is formally known, is a congenital syndrome, meaning it is present from birth. Common characteristics include low birthweight, small head size, slow growth, eyebrows that meet in the middle, upturned noses and thin downturned lips. It is thought to occur in one in 10,000 live births. And while recurrence is rare-- there seems to be some debate on the recurrence rate but it could be as high as 1.5 percent -- it does happen. Joel & I are evidence of that. Neither of us has the syndrome but one of us is carrying that genetic mutation that causes it in some of our reproductive cells. That's why we've had two kids with it.
P.S. Above is a picture of Hope in a pair of fuzzy wool slippers Joel & I got her from the beautiful island of Corfu in Greece while I was pregnant. She wore them for about three and a half minutes today, doing everything she could to kick them off before she finally succeeded.
4 comments:
We got our letter from the CdLS Foundation a couple of days ago and got a huge charge out of seeing Hope's smiling, bonneted face on the envelope. I didn't even open it until now--and there you are!
You may have almost missed Awareness Day on the blog, but you certainly did your share to spread the word. Great letter!! The check is in the mail!!!
Grandma K.
Excellent post!! I too was so tickled to see Hope and you guys on the most recent Foundation mailing :-)
Love the little fuzzy slippers, they look so cute on her! Glad she kept them on long enough for you to snap a photo. We can never get Jess to wear anything like that either.
Is it just me - but she looks like she's got a pretty good grip on standing there with just a slight bit of help. Very cool. OK. Now, I've got to see the foundation mailing. You guys are celebrities!
Oh, that comment was from Lisa. I didn't notice until just a minute ago that Brian was signed in. Oops!
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