Steve & Marci

The Search for a Doctor 

Steve and Marci said their daughter, Emily, was about 10 when they noticed her left foot beginning to turn in. When Emily told them she couldn't straighten it out, they consulted Emily's pediatrician. Eventually, Emily underwent orthopedic surgery to fuse her foot in a forward position, while the family continued searching for answers to her worsening condition. They consulted eight different doctors before one of them suggested the possibility of dystonia, and testing confirmed a DYT1 diagnosis.

The family lived in Los Angeles, but their search for a neurologist took them to San Francisco. The distance was an issue, but they felt confident in their choice of doctor, which made the travel worthwhile. "If you don't feel comfortable with your doctor, then you need to find another [one]," Marci said. Marci and Steve suggest parents take time to find someone they trust. "When you meet the right doctor, you just know it," Steve said.

‍

By then, Emily was using a wheelchair and could no longer walk. Since she had lost the use of her right hand, she taught herself to write with her left so she could continue doing schoolwork. To address her symptoms, medication was the first course of treatment, though Emily's parents remembered considering DBS right away.

‍

Diagnosis to DBS 

Since dystonia is progressive, Marci and Steve felt that early intervention would be best, and they quickly made the decision to proceed with DBS surgery. They remembered thinking about what Emily's life would be like without DBS and wondering if she would be able to live independently and have a career or relationships. "We were worried if she didn't have it, what kind of life was she going to have?" Marci recalled. They felt they needed to show confidence in their decision to move forward with DBS, so that Emily would feel confident, too. Leading up to surgery, Steve said, "There were nights that we cried. We did it privately, so she didn't see it."

Shortly after DBS surgery, Emily's parents recalled that Emily no longer needed a wheelchair and she began taking dance classes at school within a few months. Over the next few years, they said Emily got progressively better and even completed the Los Angeles Marathon around the age of 16. "If you [didn't] know, you would just think she might have a gait that was a little off," Marci said. 

‍

Marci and Steve said that DBS was life-changing for Emily and their family. At the age of 18, Emily started living on her own. She attended college away from home and later pursued her PhD, while also pursuing her love of international travel. "All those things that you dream of for your child – I don't think any of that would've happened without DBS," Steve said.

Advancements in Technology

Technology has advanced since Emily first had DBS surgery, and her parents are optimistic about what it means for their daughter. They originally selected a permanent battery for Emily, but they often worried about when or where it would run out of power. Just before leaving for college, Emily required emergency battery replacement surgery, and the surgeries have left their mark over time. "She's got pretty bad scarring," Marci said. "As a mom, I felt really bad about that." Emily has since switched to a rechargeable battery, and because batteries can now last longer, Marci and Steve hope the next time may be the last time they have to be replaced.

‍

Facing Challenges with Resilience

Marci and Steve think about how these experiences have shaped Emily's ability to face difficult challenges with resilience. "She's an amazing person," Steve said. "I think she would've always been amazing, but I think some of it comes from the fact that she's had challenges."

‍

After DBS, Emily's parents recalled how they stopped thinking so much about dystonia and started thinking about things like dance recitals and Little League. "All those things become more important than dystonia and deep brain stimulation. It becomes no different than if your child was diabetic and you made sure they took their insulin at night," Steve remembered. Now that Emily is an adult, her parents say they no longer think much about her condition. "I would say 99 out of 100 times I think of my daughter, I don't think of her having dystonia anymore," Steve said.

‍

However, Marci and Steve recognize that DBS doesn't cure dystonia. Marci said Emily gets tired more easily than most people, and she has had to make accommodations. "Even with DBS as great as it is, she still gets tired because her muscles are still at work, and she consciously knows she needs more sleep than most people." 

‍

Marci said Emily considered going to medical school. "She had full scholarships through college. But she made a conscious decision not to [go to medical school] because she knew that she couldn't be on her feet for 12 hours." Instead, Emily set her course for a career as a college professor, knowing that it would be mentally challenging but less physically demanding. Since there's currently no cure for dystonia, Marci said Emily recognizes her limitations and plans her life around them. Despite the challenges she’s faced, she said Emily has always stayed focused on the benefits of DBS.

‍