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We provide you with articles on brain science, timely topics, and healthy living for those affected by neurologic challenges or seeking better brain health.  

Profiles
By Paul Wynn

Living with a Rare Disease Called CADASIL

Janet Young sitting at loom
Courtesy Janet Young

Janet Young, 62, says CADASIL syndrome explains her varied symptoms. She shares her story with Brain & Life.

I have always been an extrovert and love to gather with family and friends. Thankfully, my dear husband, Fred, who is quieter than I am, doesn't mind that I talk a lot—or forget a lot.

My memory problems have been a constant since childhood. They became more apparent in high school when I had trouble remembering dates and names in favorite subjects like history. I always took detailed notes. I did the same at college, where I earned an associate's degree in business and fine arts—and met Fred.

After college, I held a series of clerical jobs. Eventually I became interested in paralegal work and decided to get a paralegal certificate. For the next few years, I was a paralegal at several law firms. Then I returned to college to get my bachelor's degree in fine arts and fiber. Weaving fabric was easy, but I struggled with math and chemistry classes. With the help of a tutor, I passed those classes and graduated in 2004.

In the winter of 2010, I slipped on some ice and hit my head. Soon after, I started experiencing headaches and blurry vision. After consulting with my doctor, I was referred to a neurologist, who ordered an MRI, lumbar puncture, and CT scan. Based on those results, I was diagnosed with multiple sclerosis and prescribed medication. A year and several medications later, my symptoms hadn't changed, so I underwent another round of the earlier tests as well as blood work. This time I was told I had CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a genetic disorder that can cause cognitive impairment, short-term memory loss, strokes, seizures, migraine, and dementia—all from damage to small blood vessels in the brain.

On Thanksgiving in 2015, I had a seizure and was started on antiseizure drugs.

Although I still have auras (a series of sensory disturbances that can precede a seizure) every couple of months and constant numbness on my left side, I haven't had a seizure in six years. To compensate for my poor memory, I keep notebooks around the house to write down what I need to remember. Fortunately, I have the perfect partner. Fred is quiet but steady and helps me get through the highs and lows of this unpredictable disorder.

—As told to Paul Wynn