My journey began with dystonia as a young athlete and cheerleader. I had been playing sports and cheering for years with no issues other than the occasional bumps and bruises. I would soon learn the pain and frustration people with Dystonia often suffer when trying to find an accurate diagnosis.
After having a series of issues with my shoulders, back and neck, I was directed to a surgeon, who would perform unusual shoulder surgery to try and combat back muscles that were in constant spasm. Nobody seemed to understand what I was feeling or experiencing, and certainly no correct diagnosis could be found.
It was after my sixth shoulder surgery that I started to experience symptoms that didn’t make sense to me or anyone else. My hand started to contract, my fingers curled in like a fist and I was not in control of them. Shortly after that my foot started to do the same. Then my neck muscles would contract, canting my head to the side, and stick like that. It was all very unusual and very painful.
Heading back to the doctors I had seen before was fruitless, as they didn’t understand and accused me of making it up, saying it was in my head. I was frustrated and angry. Why would anyone do this on purpose? And how? It was getting disheartening. I was feeling desperate for answers. I would soon find them.
I first met Dr. Peter Novak in 2009. He was the head of the UMass neuroscience department. The first meeting with him was when I first learned what had been terrorizing me and my body. It finally had a name. Dystonia. I had never heard of the movement disorder until that visit. He was the first doctor that listened to me and he found the answer through studying me and found conclusive evidence that is was in fact this rare disorder.
It was at the same UMass Medical Center in Worcester, Massachusetts, a small teaching hospital, that I first met Dr Julie Pilitsis. She, along with Dr Novak and a team of neurological doctors, decided to place a device in my brain called a deep brain stimulator. Basically, a pacemaker for my brain. The surgery was performed in April 2011, and it was immediately clear it was going to work! I had finally, after all this time, found some relief. My hand opened during the surgery while testing, and it was completed with great hope and happiness.
That joy would be short lived, however. In June of the same year my 9 month old daughter Hailey and I were hanging out at my families’ house, just enjoying the day, when my mother noticed something. The scar on top of my head from the surgery didn’t look right. After sending pictures to the doctor, I was sent to the ER where they did a CT and found that it had been infected.
You can imagine, this was a blow to my morale and my life. I was told I would have to have the entire unit removed so I could start antibiotics and let my body heal. I was devastated.
Shortly after that I was back in the OR, having the device removed. I was experiencing headaches and was sick. It was the worst I’ve ever felt. I just wanted to get better and get back to my life and my daughter.
With the device removed, I was able to heal and was no longer sick. We applied for the reinstallation of the DBS, only to be denied by insurance. We would end up fighting with them, writing letters, begging for a second chance. It seemed this was going to be an uphill battle. After months of going back and forth with the insurance company, I was approved for another try.
Three days before Christmas 2011, I was in Albany New York with my parents by my side, getting the DBS put back in. This time it was successful. The system was doing its job, and there were no infection concerns.
After years of dead end doctor visits, mistakes, trial and error, and guesswork I had finally found relief from my symptoms. It was a nightmare to ensure that but it was finally in the past. The DBS, once adjusted, was working great. My quality of life was substantially better. It would stay that way, more or less, for the next seven years.
August of 2017, with two young children now ( Hailey and Cody), I was newly single and started seeing someone. Shortly after we met, I was home alone one night, when my symptoms started to reappear. My head got stuck tilted down. My fingers curled in and then released days later. It was starting to come back. But why?
I would begin a series of frustrating attempts to figure out why my body was showing dystonic symptoms again. And I began to worry.
Ultimately, the decision was made to try different doctors. With help from my new boyfriend Jim, we began trying to figure it out. Several doctors tried different solutions, none of which had any effect. It was getting to the point I didn’t know where to turn. Some had crazy ideas about burning the part of my brain that controlled my hands, which would possible result in me losing my ability to swallow and speak. Nope. That wasn’t the answer. They tried adjusting the settings a hundred different ways, replaced wires multiple times , and even told me psychotherapy was the answer. None of this was making any sense. It was working fine one day, then it wasn’t. It took reaching out to my original doctor , Who had moved years before to Albany NY ( where my second installation surgery was performed ).
I visited Dr Pilitsis in January of 2019 to have the device completely removed and replaced with a completely different and more modern unit.
Today, with the help of my outstanding neurologist Dr Jennifer Durphy, Dr Pilitsis, and the staff at Albany Medical Center in NY, I have been able to enjoy a decent level of comfort and relief, although it hasn’t been perfect. The device has sometimes failed to function properly, and I have begun receiving injections of Botox into my arm and leg to try and keep my freedom of movement. I have also had several hand surgeries to attempt to repair damage done when my left hand was closed tightly for over a year.
Every day is something new. A new chapter has begun in my life. I recently married Jim, and I have been thinking about our future together, and what that might look like. For me, I have decided to dedicate time to getting fit, eating well, and staying active. Until the pandemic hit, we had been orchestrating a walking fundraiser for the Dystonia Medical Research Foundation, or DMRF. This year, because we cannot yet gather to hold this event, I have decided to do something more personal, to give back to the foundation that has been a large part of my care and progress.
- Donate $5 and I will walk one mile.
- Donate $15 for 3 miles (one day of walking)
- Donate $75 for 15 miles (one week of walking)
- Donate $100 and I will dedicate two weeks of walking to you!
Cynthia St Jean