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“He’s doing fantastic,” our geneticist gushes at our son Will’s yearly evaluation. “His mobility, his muscle tone … really, for 12 years old and his mutations, you couldn’t hope for better for his condition right now. I don’t think there are any other specialists he needs to see or…
October is my favorite month. I grew up in Ohio and loved the snap in the weather when fall finally arrived. Besides being my birthday month, it also brought Halloween. I always looked forward to spooky stories and the thrill of being “scared” at local haunted attractions or while watching…
When people learn what Sanfilippo syndrome is and that our 12-year-old son has it, their reactions are immediate. “Oh, I’m so sorry.” “I can’t even imagine.” “That must be so hard.” Sanfilippo is a devastating disease. There’s no way around that. It’s devastating to the child, feeling frustrated as…
“Get busy living or get busy dying.” As a teenager in the 1990s, I clearly remember that quote echoing off the television screen. It was from “The Shawshank Redemption,” one of the first R-rated movies I was allowed to watch. The film played around the clock on TNT,…
“Will’s just doing so well,” a well-intentioned person gushes to me. I smile, happy for the attention and recognition Will receives for his hard work. “I just see him up and walking so much more,” the person continues. “You can really tell he’s getting better!” I maintain my smile and…
I look down at my hand and back at my face in the mirror. It’s time. I sigh and take off the diamond and white gold wedding band that I love and place it, lovingly, carefully, into my jewelry box. Then, from the same box, I pull a silver-colored silicon…
It’s 1 a.m. on a Wednesday, and I’m sitting in my living room debating my options while listening to my 11-year-old son repetitively clap and growl over the baby monitor we still keep installed in his room. Will isn’t sleeping tonight. Which means I’m not sleeping tonight. Although none of…
Parenting a child with Sanfilippo syndrome results in many forms of grief. There is the diagnosis grief, when you mourn the loss of the future you thought your child had. There is regression grief, as you watch your child’s skills slip away day by day, stolen by a monster you…
One of the most difficult things about having a child with an incurable terminal condition is the feeling of helplessness that comes with it. When Will was diagnosed with Sanfilippo syndrome seven years ago this month, it was crushing to realize that we were going to bear witness to the…
March 5, 2015, was the worst day of my life. I had stumbled upon a story from the “Today” show about a little girl with Sanfilippo syndrome, and my heart instantly knew what my brain wanted to deny: My 4-year-old son, Will, had the same rare genetic disorder, which…
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