Living with Dystonia - Stephanie's Story

On an unusually warm afternoon in mid March, I took a short drive to visit with Stephanie and her parents at their Medfield home. As I sat on the sofa beside Stephanie and her dog, Izzy, I had one of those moments when you realize how quickly time goes by and how much things can change in that time.

Stephanie is a 23-year-old college student, who attends the University of Illinois Urbana-Champaign and was home on school break. She is majoring in Community Health and Rehabilitation and minoring in health education and speech/hearing sciences. 

Having such a demanding course load and living so far from Medfield is a pretty big task for any young high school graduate, but Stephanie embraced this challenge and the new chapter in her life 4-plus years ago with the same excitement many 18 year olds do … she was finally going to leave Medfield and go where she wanted. 

But Stephanie’s situation is just as different as the weather was when I sat talking to her. Stephanie has dystonia and she went off to college in a wheelchair and what she experienced was much more challenging than anyone could have envisioned.  

According to the Dystonia Medical Research Foundation, "dystonia is a movement disorder that causes the muscles to contract and spasm involuntarily. The neurological mechanism that makes muscles relax when they are not in use does not function properly. Opposing muscles often contract simultaneously as if they are 'competing' for control of a body part. The involuntary muscle contractions force the body into repetitive and often twisting movements as well as awkward, irregular postures. There are approximately 13 forms of dystonia, and dozens of diseases and conditions include dystonia as a major symptom … dystonia may affect a single body area or be generalized throughout multiple muscles.” 

Stephanie was diagnosed with dystonia in the summer of 2006, just before entering her senior year at . This diagnosis did not come quickly or easily. Stephanie showed symptoms as early as May 2003, when she was in eighth grade and she was seen by nine neurologists before Dr. Sanger in California finally made the diagnosis. 

As a high school freshman, Stephanie was on the swim team, but she experienced some stiffness in her limbs, especially after a lot of activity and she could not continue to swim on the team during her sophomore year. The dystonia had progressed. The first definitive signs that something was not right was when her right foot would turn inward and was stuck that way and her left hand clamped up. Her muscles just weren’t working right.

On April 25, 2007 Stephanie underwent DBS (deep brain stimulation) at the Lahey Clinic while in her senior year at Medfield High. She had her head shaved and electrodes were implanted into her brain and connected to two batteries placed in her chest. This was done to interrupt the signal from the brain to the muscles in hopes that the stiffness and muscle spasms would stop. Her parents were hopeful that this surgery would allow Stephanie to walk, but her surgery did not yield those results.

Stephanie’s story has become national news. This past fall, the Dystonia Medical Research Foundation (DMRF) sent out a mass mailing and I received it. When I saw Stephanie’s photograph on the envelope, I immediately recognized her and was anxious to read her story. I was truly touched by her amazing strength and resolve. 

“Many things have changed for Stephanie,” it states, “But, what hasn’t changed is her perseverance and hope for a better future, one free of dystonia.”

I have known Stephanie since she was two years old. Stephanie and my daughter, along with a few other little girls were part of a toddler playgroup, which met weekly. We would sip coffee and chat while the girls played together. All of these girls were happy, excitable, cute and curious. Typical toddlers.

Until very recently, I hadn’t seen Stephanie since her high school graduation day, June 4, 2007. Stephanie had gone through a very difficult high school senior year and had missed out on much of the fun that is a rite of passage for seniors.

Senior year should be enjoyable and memorable, but for Stephanie it was a year with disappointments and frustration. 

Stephanie had to learn how to navigate life in a wheelchair at MHS. The expansiveness of the building no longer held the same appeal to her. She tried to stay involved in school activities. She became the swim team manager as she was no longer able to swim. She participated in the Senior Fashion show, and attended the Senior Prom. She had a shaved head at prom because it was held just two weeks after her April surgery. Unfortunately, Stephanie was discouraged by school administrators to go on the Senior Cruise and regrettably, she did not attend.

On graduation day, she was the last senior student to go on stage to receive her diploma and she received the largest applause, but Stephanie was also the only graduate who used a wheelchair that day, unable to walk across the stage. 

When I met with Stephanie, I wanted to hear about what life has been like for her since leaving Medfield and living on her own at college. Even though she seemed a bit tired when I first arrived, she was very specific about what she has endured during these past 4-plus years. Her service dog, Izzy, stayed close by and occasionally jumped up on her bed as we talked. Izzy has been Stephanie’s four-legged roommate at college since August 2009. This dog’s love and commitment to Stephanie was evident.

Stephanie moved to college in late summer of 2007. Her mother told me she moved into a regular dorm and was using a manual wheelchair at that time.  She had pretty good upper body control when she moved in, but her first year at the University of Illinois was much more difficult than she or her parents could have imagined. 

She experienced many challenges while living far from home. Just three weeks into her first semester she had a “dystonic storm," a term used by neurologists to describe uncontrolled contractions of muscles throughout the body resulting in painful and distorted positions of multiple limbs. She was treated at Northwestern Hospital in Chicago and was put into a medically induced coma in hopes that her muscles would relax. 

She spent a week in the Intensive Care Unit and then spent three months at the Rehab Institute of Chicago with her Mom at her side. In December 2007, she came home to Medfield for treatment in Boston and at the New England Rehab in Woburn. Her progress was slow “at best.” She required a motorized chair and assistance for her daily needs.

She returned to college September 2008 through September 2009 and resided in a special dorm (Beckwith Hall), which serviced students with physical disabilities. Her mom said it was a “fairly good year” and she completed two semesters.

In October of 2009, she had another dystonic storm. Local Chicago hospitals couldn’t treat it so she came back to Boston (Mass General). She was not put into a coma, but her medications were adjusted and she spent over a month at Spaulding Rehab Hospital in Boston. Her baseline was again compromised, which meant she then required assistance with all of her daily needs.

She returned to college in January of 2010 with her service dog, Izzy. She moved into Beckwith Hall and hired personal assistants to help with her daily needs. In September 2010 the college opened Nugent Hall and Stephanie moved into a first floor dorm for students with severe physical disabilities. Her father commented that “it is a state-of-the-art adaptable facility.”

Stephanie’s family is an amazing, supportive, loving and caring group of people. Her sister, Julie, has run in four marathons over these past 5 years (Florida, Chicago, San Diego and Virginia Beach) in support of her sister and to raise awareness and funds for the Dystonia Medical Research Foundation (DMRF). Stephanie’s friends have also held fundraisers with proceeds going directly toward dystonia research.

The Dystonia Foundation holds a family symposium every other year and Stephanie and her parents attended their first in August of 2007. They attended their second in 2009 and their third this past August. 

“The Dystonia Foundation is a pretty close knit group," said Stephanie’s Mom,
Diane. "They have provided great support to our family. ... It is not unusual for young adults to speak at these symposiums to relate their experiences.”

As much as Stephanie appreciates the support the DMRF has given her and her family, she felt strongly that she wanted to speak at one of these events because she felt that people needed to hear the "other side of the story." She had only heard success stories and she wanted to tell her own story.

She offered to speak at this past year’s event, but the slots were full and they suggested she speak in 2013, but a few months later they called her and asked her if they could share her story in their quarterly magazine. She agreed and then they asked her if they could also use her story for their annual fundraising campaign. I received one of those mailings and saw Stephanie’s smiling face on the envelope.

Just before leaving Stephanie’s home, I asked her what message she would like me to convey to the readers and she emphatically stated that she often feels “invisible and nonexistent ... people look away ... they don’t make eye contact with me.”

Whether at college, or in Medfield, she said people treat her like she is "dumb" because she must lie down in a motorized chair. They think her physical impairments affect her mental ability. Nothing could be further from the truth. She recalls being treated differently when she was able to sit up in her wheelchair and now she said (referencing how people treat her), "the more I lie down, the dumber I get.”

I talked with Stephanie and her parents, John and Diane Zaia, for almost three hours that afternoon. They are committed to raising awareness of this disease and supporting the research to find a cure. Each day they take on the challenges that face them and the unknowns of the future with courage and hope. 

To learn more about dystonia or how to support research, go to the Dystonia Medical Research Foundation website, www.dystonia-foundation.org and watch this YouTube video from one of their symposiums titled "Families Supporting Each Other" http://www.youtube.com/watch?v=etenYiMW834&context=C404c6c4ADvjVQa1PpcFMhbbsyZS30PuQPOtWC5mteZwooyD33gYw.