STRENGTHENING COMMUNITIES TO BETTER UNDERSTAND RARE DISEASE

Sara Whitestone

One morning I woke up and I couldn’t move. I was a 16-year-old girl living in rural America, trapped in her own body with no idea of what was happening to me. Was I dying? I had been a long-distance runner at school and a nerdy band kid who wanted to play the flute professionally. I thought I was really living the small-town dream until it seemed to become a nightmare. What would life be like if I couldn’t even move from bed? This was a lot to take in over the next few months as my family and I were bounced from specialist to specialist who would describe “viral onset” and how my symptoms appeared to be similar to those of auto-immune diseases.

I couldn’t walk or keep normal foods down. I had weird rashes and pains. The worst was the syncope where I’d easily exert myself to exhaustion doing simple things and just pass out. Eventually we were told that we should monitor the symptoms and come back for a visit if they persist. I went from classic American high school student to bed-ridden for almost two years without any solid explanations or diagnosis. My quality of life was completely destroyed by this ever-mysterious virus and the complications, but I became determined to understand why this was happening to me.

We turned to the internet. In the early days of Twitter I searched for anything and anyone that could give me a clue about my symptoms. That’s how we discovered POTS (Postural Orthostatic Tachycardia Syndrome) and the genetic testing I’d need to solidify a diagnosis. For the first time we had a name to call this thing and with that came an entire community of supporters and fellow patients. I started to learn from patient success stories and their challenges receiving effective health care around the world. I found therapies and medicine that worked for me. In 2012, some people even came together to help start a foundation to buy me a wheelchair. That foundation still helps others like me today to purchase wheelchairs, hearing aids and even a service dog for others. With much support, I started my undergrad years at the University of Cincinnati in Ohio studying Neuropsychology and Communications.

I really leaned into my school and my new therapies to manage pain and other symptoms. Over time I was able to become more and more mobile. As I was able to walk and then slowly run again, we never guessed that my sister could get sick. It’s often harder for me to talk about my sister’s illness than my own. I can’t describe how it felt to have just gone through all of this, to see some light in it all, and then to see her start to go through some of the same experiences and pain that I had. This is where I really started to learn about Precision Medicine. While we were able to get her some of the same resources we’d discovered for me, her journey is not the same. Even though she’s my blood relative, the same medicines or therapies that work for me won’t necessarily work for her. It’s for this reason that I wanted to keep learning the molecular biology behind these traits. I became even more passionate about genomic testing and rare inherited disease research.

The University of Bordeaux had a Master’s program that I was willing to make a move to France for. At this time, I thought maybe I’d be happy spending the rest of my life behind a microscope. Ultimately, it wasn’t enough. Soon I felt a need to be more involved in the patient experience and their journey. I came across SOPHiA GENETICS a year before I eventually was hired. After everything I’d been through in my own experience, I knew that their combination of research with new and innovate approaches is the future of medicine.

The main component that drew me was the SOPHiA community of hundreds of hospitals around the world and the potential they have to advance Data-Driven Medicine. I started applying to any job opening I could find until I found my perfect role as Scientific Communication Specialist. I’m so thankful to be able to work around such amazing minds here in our French offices as I get to write about the advanced biotechnology that’s driving the future of medicine.

Even though I can now run 10Ks on the weekends for fun, I know what it’s like to feel alone, immobile and like there’s nothing I can do to help myself. I also know that our work will likely help people who may be in a similar situation. There’s always someone out there who needs help or resources that aren’t readily available, and I see a lot of patient advocacy groups becoming more prominently part of the clinical process in the future. It’s about building those communities and connecting the ones that are already out there. For me this is the future of medicine. Knowledge sharing is so powerful and I think my life is a testament to the strength of a community’s power to change and save lives.