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“Oh, no.” That’s never a good thing to hear in our house. I pick up my pace as I walk to the kitchen, where my husband, Tim, is feeding breakfast to our son, Will, who has Sanfilippo syndrome. “What’s wrong?” I ask, always fearful of the answer. “He’s doing…

Rare Disease Day on Feb. 28 is an excellent opportunity to promote awareness of diseases that often receive less attention, research, and funding than more commonly known ones. My daughter Abby has a rare disease called Sanfilippo syndrome, which sometimes is called “childhood Alzheimer’s” because the symptoms…

For many, January is a month of renewal, a fresh start to a new year. It’s a time to make resolutions and promises to to be better in some aspect of your life. To us, it’s a reminder of, “Oh, crap, we have to take the Christmas decorations down!” My…

My husband and I just returned from a wonderful Christmas vacation away from home. We enjoyed time with friends, relaxed, and took advantage of the opportunity to do what we wanted for several days. We were only able to do this because we had caregivers at home for our daughter…

During this season of miracles, I invite you to celebrate one with our family. It happened the day before Thanksgiving, which usually is a day when no work or anything else of consequence gets done because of holiday preparations. My husband and I were figuring out our food-prep schedule and…

Caring for a loved one with a terminal illness is difficult. Not knowing the details or the timing of their passing causes so much anxiety and fear. My daughter Abby has Sanfilippo syndrome, a rare, terminal disease. I find myself caring for her while she is here but also…

“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…