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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…

As I write this, October has come to an end, and children are fully back in the swing of school. Social media is filled with photos of Halloween costumes and fun. While it’s been a joyous time for most, seeing all of the pictures of happy families actually makes me…

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…

I sometimes wish I could see into the future. Would knowing the timing of events to come help me plan for them? It’s all about preparation. I surmise that plenty of caregivers and parents of people with all sorts of special needs and circumstances would glance into a crystal ball…

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…

I have a job that I love. This is my third year teaching first grade, and it’s rewarding and challenging in so many ways. From day one, my students (or my “kiddos,” as I call them) learn that kindness is our classroom’s golden rule. I remind them each and…

The rare disease community faces many challenges. Medical costs, caring for an affected family member, and getting them to doctors’ appointments are only a few. The emotional toll the disease takes on the entire family, including extended family, can also be extreme. Then there is education and advocacy.

“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,…

Raising children is a big responsibility. Parents experience so many emotions while rearing children — joy, sadness, frustration, gratitude, fear, and more. So many things can go wrong. So many reasons to worry. I’m not a worrisome mother; I try not to sweat the small stuff. This is partly due…

“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’m a teacher, so the word “summer” invokes thoughts of relaxation and letting go of responsibilities. During summertime, many people take advantage of the time off and go on vacation with their families or do other fun activities. But families who are affected by Sanfilippo syndrome never have…

My cancer has returned. My schedule is filled with chemotherapy and doctor appointments again. Currently, I receive chemotherapy infusions every other week, and my understanding is that this will be my life going forward until I decide I need a break. I have an inoperable tumor right next to…

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…

We do not live in a world of absolutes, a world of only black and white, right or wrong, good or bad. Instead, there are mostly shades of grays, or different versions of the truth. Each version is based upon personal experiences, making it mostly subjective. This should give us…

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…

Sanfilippo syndrome is a rare, genetic disease that typically presents itself in children when they are either toddlers or adolescents. Children with this disease commonly exhibit hyperactivity, cognitive decline, sleep problems, diarrhea, and declining motor skills. Unfortunately, these individuals often pass away either before or during their teenage…

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…

I have always struggled with anxiety. I have also always been close to my family. When my sister, Abby, was diagnosed with Sanfilippo syndrome — a terminal illness with no cure — those two things teamed up to challenge my mental health in a way I’d never experienced before. When…

Recently, the family of American actor Bruce Willis announced he has been diagnosed with aphasia. The news has raised some discussion about the condition and how it affects people. Aphasia is a language disorder that is brought on by brain damage, often making a person unable to express themselves…

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…