MySCA17

My Ataxia (SCA17) Journey

In September, 2020, I was diagnosed with Spinocerebellar Ataxia, type 17. SCA17 is a hereditary disease that causes changes in the cerebellum, the part of the brain related to movement control, balance, coordination, and emotions.

WHAT LED TO MY DIAGNOSIS

I had a fall on my longboard while casually skating around Cheesman Park in Denver. Dragging my foot on the pavement to slow down, I caught a small divot and crumpled to the ground, rolling several times, before coming to an abrupt stop. At first, I didn’t think that I had any real injuries.

I brushed myself off and limped home, bleeding from a few cuts and scrapes, but overall, feeling well and full of adrenaline. After a short nap on the couch, I woke up to excruciating pain in my foot, and a severe sense of vertigo. My left foot had swollen to double the size of my right. I Uber’d to the ER to find that I had broken the main bone in my foot.

After six weeks of resting with a cast and staying off my left foot, my left leg had lost a significant amount of muscle mass. In fact, the circumference of my left leg was almost one inch smaller than my right leg, and it was weak. It was so weak that it trembled as I sat, and I wobbled visibly as I walked. The doctor told me that this “muscle atrophy” would go away once I work out my leg back to shape.

But, my leg never came back into shape. Leaving my crutches behind, I worked my leg back to full size, but the shakiness did not go away. Turns out, it wasn’t just muscle atrophy, it was something much more that was preventing me from walking a straight line.

Long story short, one year later, four MRis of my brain and spine, one spinal tap, an EMG nerve test, tons of blood work, and finally a genetic test, I was diagnosed with Spinocerebellar Ataxia, type 17, or SCA17. It was only coincidence that I was originally brought to the hospital with a broken foot. I have had this disease my whole life, only just now showing symptoms, timed perfectly with my fall. Right?

This will change my life drastically forever.

MOVEMENT DISORDER (Ataxia)

I need a cane just to walk in a relatively straight line. I can’t climb stairs, walk uphill or downhill like I used to, without support. I can’t run, or even jump. Volleyball in the park will never happen again. Snowboarding is out of the question.

SCA17 is progressive disease. Neurologists at Denver Health and Mayo Clinic, warn me of a good possibility of needing a wheelchair to get around in a matter of years, not decades. I’m 46 now. Thankfully, my ataxia hasn’t affected my arms, hands, and fingers yet. It’s only in my brain, my face, my legs and feet. But, it’s only a matter of time before I won’t be able to type like this.

I take medication for balance and coordination that is often prescribed to people with Parkinson’s Disease (Amantadine).

UNCONTROLLABLE EYE MOVEMENTS (Nystagmus)

Nystagmus describes fast, uncontrollable movements of my eyes, typically when they bounce side to side (horizontal nystagmus). This symptom is very apparent in my right eye, observable mostly at the end of the work day.

SUDDEN UNCONTROLLABLE MOVEMENTS (Dyskinesia)

The most annoying symptom of SCA17 is the Dyskinesia, when my legs decide to kick out on their own. It helps when I take my pills. When I don’t take my pills, I can sometimes have spastic jerky movements, usually in my legs. Sometimes, this wakes me up at night.

ANXIETY & DEPRESSION

Anxiety and depression are side effects of SCA. It’s not just from getting the news that I have a progressive chronic illness, but because emotions are also controlled from the cerebellum, so my depression is also physiological. I have recently been prescribed medication for depression (Lexapro). I lost my mom in August. She died after a very sudden, short battle with cancer. She was diagnosed in February and passed away in August. I was there to surprise her in the hospital for her final day of radiation, on my birthday, July 31st. I returned back to Colorado, she was doing well, and passed away August 16th. I have been having a hard time with that.