Rewriting the Future: My Journey Towards A Cure for SCA3

I was 24 years old when I realized I was in the genetic line-of-fire for SCA3. I had already watched my dad go from an avid marathoner and mountain biker to walking with a cane and eventually a walker - no longer able to do those activities and constantly adapting his life to this degenerative disorder. 

At first, I thought that if this happened to me, losing my balance occasionally wouldn’t be so bad. 

But when my dad - barely middle-aged - started falling, I began to realize that this disease was serious. As I learned more about the disease, my outlook became more and more grim. I went down a path of anxiety attacks and depression realizing that there was a 50% chance that this could be my future - that a “normal” life was far from guaranteed.

Over time, through counseling and a lot of processing with family and friends, I was able to move through the depression and anxiety. Instead, I chose to focus on my father and on my relationship with him, recognizing that any time spent together was precious and could not be taken for granted. I still refused to get the genetic test that could drastically alter my life. I didn’t want the burden of knowing my fate if it came back positive.

Eight years went by, anxiety ebbed and flowed in my life, and I watched my dad fall more - occasionally going to the hospital for injuries, other times just a bruised ego. He was now only able to get around by using a walker. My dad is an optimist, and does his best to adapt to his decline, but occasionally I would get glimpses into the sadness and frustration he carries. 

It was time for my wife and me to start family planning. IVF is expensive and requires so much sacrifice, but would give us the option to not pass down the SCA3 gene, if indeed I was a carrier. We decided it was time to get the test.

Four agonizing weeks after getting my blood drawn, the results came back. I learned that I am a carrier of the gene. Well, not just a carrier, but a carrier with more of the dreaded CAG repeats -- an indication of onset and severity of the disease. More than anyone else in my family. 

At age 31, I learned that I could be dead by 50. Without a medical breakthrough producing a treatment, reaching 55 or 60 was very unlikely. 

Worse, once I started showing symptoms (which could happen any day or not happen for several years), the 15-20 years I had remaining would be a losing battle as I fought to retain my balance, my motor coordination, and eventually my ability to swallow. 

My future flashed before my eyes. It wasn’t the life I had imagined for me and Rose. We love to be in the mountains; rock climbing, trail running, hiking. We moved to Boulder, Colorado to be closer to the mountains, making it a part of our day to day lives. Now I wondered when I would have to say goodbye to that life.

In the months that followed we eventually learned about Cure Rare Disease and the unique approach they were using to apply cutting-edge research to people in need of cures now. We learned about Terry and the origin story of CRD and were deeply moved by the dedication and grit of the CRD team. We were inspired by their commitment to find treatments for rare disease patients.

Grateful. Empowered. Hopeful. These are the words that come to mind when I think about the partnership we have begun with CRD to cure SCA3. Only recently, I was fighting to accept that I was going to lose my dad within a handful of years and that my own fate was pretty much sealed. Now there is a chance, an opportunity, to rewrite that. Not just for my family, but for the many others who have dealt with this disease for far too long.