A neurodegenerative disorder whose cause is unknown, Parkinson’s disease was first described in 1817 as “shaking palsy” by James Parkinson, for whom the condition is named. The onset of symptoms – tremors, slowness and stiffness, walking and balance issues, and a host of non-movement symptoms, including depression, constipation, and cognitive decline – is generally slow, and their progression varies among individuals. Treatment options, too, vary, and include medications and surgery. Although Parkinson’s disease is not fatal, complications of the disease, according to the Centers for Disease Control and Prevention, are the 14th cause of death in the United States.
April is Parkinson’s Awareness Month, and – in honor of the one million people living with Parkinson’s disease in the United States – I want to share my story.
You may know that Ashkenazi Jews can trace their ancestry to just 350 individuals. This heritage has created genetic similarities so acute that, according to scientists, “everyone is a 30th cousin.”
With gene mutations passed from generation to generation, Ashkenazi Jews are more likely to carry genetic variants that increase risk of certain conditions, including Parkinson’s disease. This unique ancestry presents a treasure trove of data for genetic researchers, and a powerful opportunity to improve the kind of disease mapping that can speed cures.
I don’t have Parkinson’s myself but am a daughter, daughter-in-law, and sister to individuals diagnosed with the disease – and I know too well the difficulty and frustration that Parkinson’s causes millions of people and their loved ones, especially since the disease has no cure.
Given my family history and Ashkenazi Jewish descent, I wanted to know my genetic status. Because of genetic counseling and testing, I learned that I carry mutations in both my LRRK2 and GBA1 genes, each of which is associated with increased risk for Parkinson’s. My husband Jay also carries a mutation in the GBA1 gene. So, we set out to do everything in our power to learn more about Parkinson’s and test therapies to stop its progression. Together, we enrolled in the Parkinson’s Progression Markers Initiative (PPMI), a study sponsored by The Michael J. Fox Foundation, to share our data and biosamples (blood and spinal fluid) to help scientists learn more about this disease and, most important, speed research that may lead to cures.
Jay and I support the study by participating in imaging tests and clinical exams, and by contributing biosamples annually. We’ve made this commitment because we know the only way we’re going to fight this disease is with knowledge, and this kind of data is our best hope for unlocking the key to new therapies. If we’re not willing to volunteer that data, then nothing is ever going to change. I hope you’ll join us.
The PPMI study is seeking people of Ashkenazi Jewish descent who themselves have either Parkinson’s or Gaucher’s disease (given a GBA1 connection between the two) or have a first-degree relative who has either disease. The study is enrolling people with a mutation in the LRRK2 or GBA1 gene and provides free genetic testing to identify potential participants, as well as genetic counseling.
To learn more about Parkinson’s disease and the PPMI study, visit The Michael J. Fox Foundation for Parkinson’s Research.