Jessi Keavney, a guest blogger for FoxFeed, shares her story of finding out her genetic status, feeling empowered, and taking action to help speed a cure.
I never knew my grandfather. He passed away in 1957 at age 50 while undergoing experimental brain surgery to treat Parkinson’s. Back then, levodopa had yet to be discovered and treatment options were few. My dad was only 7 years old at the time. Little did he know that he too would be diagnosed with Parkinson’s disease at age 52.
In the beginning, one could hardly notice that anything was wrong with my dad. However, 12 years later, the symptoms are obvious. Last year, I became more interested in finding out more about the disease and how to help my dad. First, I decided to get a genetic test. When the results came back that I have the LRRK2 mutation, I was even more determined to do something and I encouraged my dad and my sister to get tested, as well. I even discovered something else. I only learned after my dad and I were tested that my dad is a quarter Ashkenazi Jewish and having that ancestry makes it more probable to have a LRRK2 mutation.
The mutation had been there all along. Now knowing it’s there allows me the opportunity to become more involved. And, if I ever do develop symptoms, I’ll be prepared. But, at 36 and without a Parkinson’s disease diagnosis, what could I do to contribute to the cause?
A link on the 23andMe genetic testing site brought me to both the Parkinson’s Institute and The Michael J. Fox Foundation websites. At the Parkinson’s Institute website I learned about the “Genetic vs. Non-Genetic Parkinson Disease” study led by Dr. Birgitt Schuele. I wasted no time recruiting my dad and my sister to participate with me. Our experience was very positive and I knew I wanted to do more studies. In January, both my dad and I were some of the first volunteers for the new genetics arm of the Parkinson’s Progression Markers Initiative (PPMI). PPMI is going on at 32 sites worldwide, including Emory University in Atlanta, GA. Each time we've visited the study coordinators have been helpful and informative. I have since registered at the Fox Trial Finder to find even more studies I can participate in to make a difference.
I’m not scared knowing my genetic status; instead I’m empowered. I don’t want to hide from the disease. I want to fight it. Plus, there is a good chance I will never develop Parkinson’s. Either way, I know my data is valuable to researchers. If I don’t get Parkinson’s, it is important to know why I didn’t when others with the mutation do.
As a mother, of course I’m motivated to do my part to hopefully protect my children from getting the disease. But, it goes beyond that. It is particularly gratifying to know that the scientific discoveries made by studying individuals with genetic causes of PD can to benefit ALL people living with the disease and potentially prevent others from developing it in the first place.
Learning that I have the LRRK2 mutation changed my life, but not in a negative way. It has given me a purpose. Everyone needs something to be passionate about. I’m very encouraged by the partnerships and collaborations throughout the Parkinson’s community, and am happy to participate in this way.
To learn more about how to get involved in PPMI, visit www.michaeljfox.org/ppmi.
To find other PD clinical trials going on in your area, register today at www.foxtrialfinder.org.