My PD Story

How Genetic Testing Gave Me Confidence to Move Forward with Deep Brain Stimulation

When you live with Parkinson's disease (PD), every treatment decision feels significant. You weigh the benefits, risks and uncertainty of what the future may hold. For me, one of the biggest decisions was whether to pursue Deep Brain Stimulation (DBS), specifically targeting the subthalamic nucleus (STN).

Like many people considering DBS, I spent countless hours researching. One topic that kept appearing was the relationship between the gene mutation linked to PD called GBA1 and cognitive decline after DBS. What I learned through genetic testing ultimately gave me greater confidence in moving forward with surgery.

What Is the GBA1 Gene?

Certain mutations of the GBA1 gene are the most common genetic risk factor for Parkinson's. Research has shown that people with Parkinson's who carry a GBA1 mutation may experience a faster progression of cognitive symptoms and may have a higher risk of developing dementia over time. 

In recent years, researchers have also explored how GBA1 mutations might influence outcomes after DBS. Studies have found that while people with GBA-associated Parkinson's generally experience excellent motor improvement from DBS, some may face a higher risk of cognitive and neuropsychiatric decline compared with non-carriers. 

The Value of Knowing More

One of the challenges of living with Parkinson's is uncertainty. We often hear statistics and probabilities, but those numbers can feel very impersonal.

Deep Brain Stimulation is a surgical treatment used to help control PD movement symptoms, including tremor, stiffness, slowness of movement and medication fluctuations. For many, DBS can significantly improve quality of life and reduce dependence on medications. However, like any treatment, I had to weigh the potential risks and benefits of DBS. 

When I learned about the possible relationship between GBA1 mutations and cognitive outcomes after DBS, I naturally wondered: Do I have this genetic risk factor?

That question led me to PD GENEration.

How PD GENEration Helped Me

PD GENEration is a Parkinson's Foundation study that offers genetic testing and genetic counseling for people living with Parkinson's. The program helps people understand whether they carry genetic variants associated with Parkinson's. As a participant I underwent genetic testing and learned that I do not carry a GBA1 mutation.

That single piece of information did not eliminate all risks associated with DBS. No medical procedure is risk-free, and every person's Parkinson's journey is unique.

However, knowing that I was not a GBA1 carrier removed a significant concern that had been weighing on my mind. Based on current research, the increased cognitive risk observed in GBA1 mutation carriers was not a factor in my personal situation. 

Rather than making the decision for me, the genetic information helped me make a more informed decision.

Knowledge Replaces Fear

One of the most powerful aspects of genetic testing is that it can replace uncertainty with knowledge. Before receiving my results, I found myself asking:

• Am I at higher risk for cognitive decline after DBS?
• Should I reconsider surgery?
• Am I missing important information that could affect my future?

After receiving my PD GENEration results, I had greater clarity. While I still needed to evaluate all the other factors involved in DBS, I felt more confident discussing treatment options with my neurologist and DBS team.

The information didn't guarantee a particular outcome. But it did provide something equally valuable: peace of mind.

Personalized Medicine in Action

One of the exciting developments in Parkinson's care is the move toward personalized medicine. Instead of treating every patient exactly the same, clinicians can increasingly use genetic, clinical and cognitive information to help guide treatment decisions.

Research suggests that genetic information, including GBA1 status, may help patients and physicians have more informed conversations about DBS, expectations, and long-term planning. 

For me, PD GENEration was an example of personalized medicine at work.

My Advice to Others Living with Parkinson's

If you are considering DBS, learn as much as possible, ask questions and have open conversations with your healthcare team.

Genetic testing may not be necessary for everyone, and it may not change every treatment decision. But for me, understanding my genetic profile helped remove some uncertainty from a major life decision.

Today, I view my PD GENEration results as one of the factors that helped me move forward with confidence. I did not learn that I was "risk-free." What I learned was that one important genetic concern, the GBA1 mutation, was not part of my Parkinson's story.

Sometimes knowledge doesn't change the destination. It simply makes the path forward a little clearer.

And when you're facing a decision as significant as DBS, that clarity can make all the difference.