Welcome! This is a blog about a very special human being named Fiona, and my life as her mother. She is, among other things: a fan of The Sound of Music, a lover of crayons, an eater of spicy jalapeño cheese, and a listener (thanks to her dad) of Lee “Scratch” Perry and other reggae greats.
She also has a genetic deletion. Of her twenty-three pairs of chromosomes, she’s missing the very top of one copy of number four. This is called “Wolf-Hirschhorn Syndrome,” a name I wished from the beginning were a little easier to get out of my mouth. Even her many specialists get lost in all the H’s and R’s of the last two syllables.
If you’d like to read the beginning of our story, go here.
If you’re wondering how this deletion came about, here’s the long story, my favorite post. The short story: it was a spontaneous occurrence when Fiona began her life as a microscopic seed of cells.
If you’re curious about the blog’s title, go here.
It’s estimated that Wolf-Hirschhorn Syndrome, or WHS, occurs in 1 out of 50,000 births. You are 250 times more likely to have your house struck by lightning, according to the National Lightning Safety Institute. (But admittedly, the odds of your house getting struck by lightning appear far higher than I had expected!) I once read that there are only a few hundred reported cases of WHS in the country. It is, indeed, a “Rare Genetic Syndrome.”
Some would say “a rare genetic disease.” But I hesitate to call it a “disease.” Fiona is not, at her core, in dis ease. She is a whole being, delightful and delighted, and I am learning as I love her just how whole a human can be, with or without all her chromosomes intact.
Who am I? I’m a writer, a teacher, and a first-time mother, and you can find out more about me at my author website, www.heatherkirnlanier.com.
What does WHS mean for Fiona? We are still learning as we go. Right now, it means she is developmentally delayed, and has many specialists and therapists that follow her as she grows. It also means, at least for me, that my eyes are widening and my heart is expanding to ways of being and knowing that I had not ever considered. Please join me as Fiona continues to widen our eyes, expand our hearts, and blow our minds.