Niemann-Pick Disease

If you’re on social media, you may have noticed that October is a very popular month to raise awareness. There are messages, ribbons, profile picture frames, and appeals all seeking to raise awareness for various issues or illnesses. Everything from pregnancy/ infant loss and domestic violence to breast cancer and liver disease. Tennessee even recognizes [...]

I live with acid sphingomyelinase deficiency (ASMD) or Niemann-Pick Disease Type B. ASMD is a rare disease caused by the deficiency or lack of an enzyme needed to break down certain fats in the body. I was three years-old when I was diagnosed, but I didn’t know I had a disease until later in elementary [...]

Acid sphingomyelinase deficiency (ASMD), including Niemann-Pick disease (NPD), is a spectrum of rare genetic diseases that are progressive and don’t currently have a cure. The condition affects the way fats, lipids and cholesterol are stored in or removed from your body. ASMD includes two subgroups, neuronopathic (type A) and non-neuronopathic (type B), while there are [...]

Yesterday I took my daughter to the doctor. She scribbled on the paper, walked down the hall, tracked the light with her eyes. It was a typical doctor’s visit. Except, for us this also included discussing how to combat her neurodegenerative genetic condition, (she receives biweekly spinal infusions under anesthesia to slow her disease progression), [...]

My 2-year-old daughter had an ultrasound. Sounds pretty painless, right? If I were to chat with someone casually and they asked what I did today, I’d say, “Marian had an ultrasound this morning,” and if asked how it went, I’d say, “fine.” But there are so many things those words envelop and hide, ready to be [...]

My daughter might be dying. She has a fatal and progressive genetic condition. She is 1.5 years old. There is hope for her with experimental treatments helping to stall the progression, but still, it’s rough. Some of the most beautiful things I’ve seen in my life have happened since we’ve gotten the diagnosis. Acts of kindness [...]

Rebecca’s son. “He doesn’t look sick.” It drives me crazy when people tell me this. Recently someone asked me why he participated in Make-A-Wish when “he doesn’t look sick.” This is not the first time either. Please understand if I look at you strangely when you say he doesn’t look sick. There’s more underneath than you know. [...]